ACTN1 (actinin alpha 1) - Rat Genome Database

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Gene: ACTN1 (actinin alpha 1) Homo sapiens
Analyze
Symbol: ACTN1
Name: actinin alpha 1
RGD ID: 736411
HGNC Page HGNC:163
Description: Enables several functions, including cytoskeletal protein binding activity; nuclear receptor coactivator activity; and protein homodimerization activity. A structural constituent of postsynapse. Involved in actin filament network formation; focal adhesion assembly; and platelet formation. Located in several cellular components, including Z disc; actin cytoskeleton; and focal adhesion. Is active in glutamatergic synapse. Implicated in platelet-type bleeding disorder 15.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: actinin 1 smooth muscle; actinin, alpha 1; alpha-actinin 1; alpha-actinin cytoskeletal isoform; alpha-actinin-1; BDPLT15; F-actin cross-linking protein; FLJ40884; FLJ54432; non-muscle alpha-actinin-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381468,874,128 - 68,979,302 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1468,874,123 - 68,979,440 (-)EnsemblGRCh38hg38GRCh38
GRCh371469,340,845 - 69,446,019 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361468,410,793 - 68,515,709 (-)NCBINCBI36Build 36hg18NCBI36
Build 341468,410,792 - 68,515,709NCBI
Celera1449,401,716 - 49,506,993 (-)NCBICelera
Cytogenetic Map14q24.1NCBI
HuRef1449,510,917 - 49,616,121 (-)NCBIHuRef
CHM1_11469,279,215 - 69,384,488 (-)NCBICHM1_1
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(R)-adrenaline  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,3',4,4',5,5'-Heptachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-dinitrotoluene  (ISO)
2-nitrotoluene  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (ISO)
allethrin  (ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bleomycin A2  (ISO)
bromochloroacetic acid  (ISO)
buspirone  (ISO)
Butylparaben  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
cannabidiol  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
carnosic acid  (ISO)
chloropicrin  (EXP)
chromium(6+)  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
corosolic acid  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
cyproconazole  (EXP)
DDE  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diazinon  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
enzacamene  (ISO)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (ISO)
indometacin  (EXP)
ionomycin  (ISO)
isoflavones  (ISO)
ivermectin  (EXP)
lead(0)  (EXP)
leflunomide  (EXP)
linuron  (ISO)
lipopolysaccharide  (EXP)
Mesaconitine  (ISO)
metformin  (ISO)
methimazole  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
methylmercury(1+)  (EXP)
microcystin-LR  (ISO)
Muraglitazar  (ISO)
N-nitrosodimethylamine  (ISO)
ochratoxin A  (EXP)
oxycodone  (ISO)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
potassium dichromate  (EXP)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (EXP)
prostaglandin A1  (ISO)
pyrethrins  (ISO)
quercitrin  (EXP)
resveratrol  (ISO)
rotenone  (EXP,ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
Soman  (ISO)
starch  (ISO)
sulindac sulfide  (EXP)
tauroursodeoxycholic acid  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP,ISO)
titanium dioxide  (EXP,ISO)
triadimefon  (EXP)
tributylstannane  (EXP)
Tributyltin oxide  (EXP)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. [Organization of the activities of the medical-sanitary battalion] Sherniakov MA Voen Med Zh 1978 Nov;(11):20-2.
9. Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin gene. Youssoufian H, etal., Am J Hum Genet 1990 Jul;47(1):62-71.
10. Integrated Analysis of Multiple Microarray Studies to Identify Core Gene-Expression Signatures Involved in Tubulointerstitial Injury in Diabetic Nephropathy. Zhou H, etal., Biomed Res Int. 2022 May 10;2022:9554658. doi: 10.1155/2022/9554658. eCollection 2022.
Additional References at PubMed
PMID:1629252   PMID:1720388   PMID:1991513   PMID:2116421   PMID:2169343   PMID:2777757   PMID:2780298   PMID:7750553   PMID:7790378   PMID:7829101   PMID:7983147   PMID:8125298  
PMID:8713105   PMID:8997639   PMID:9030526   PMID:9501083   PMID:9535896   PMID:9599291   PMID:10029173   PMID:10198040   PMID:10224105   PMID:10369880   PMID:10470015   PMID:10753915  
PMID:10793131   PMID:10801846   PMID:10833443   PMID:10926853   PMID:11101506   PMID:11110697   PMID:11113628   PMID:11114196   PMID:11223950   PMID:11305911   PMID:11369769   PMID:11423549  
PMID:11470434   PMID:11573089   PMID:11724819   PMID:11739652   PMID:11802708   PMID:11842093   PMID:11846417   PMID:11854440   PMID:11972044   PMID:11973348   PMID:12023963   PMID:12202484  
PMID:12211109   PMID:12223541   PMID:12446711   PMID:12477932   PMID:12493766   PMID:12499399   PMID:12507293   PMID:12615977   PMID:12628297   PMID:12642359   PMID:12665801   PMID:12695497  
PMID:12837758   PMID:14581471   PMID:14623081   PMID:14630798   PMID:14702039   PMID:15070900   PMID:15123239   PMID:15147863   PMID:15159419   PMID:15489334   PMID:15604093   PMID:15710624  
PMID:15988023   PMID:16009940   PMID:16097034   PMID:16125169   PMID:16189514   PMID:16190873   PMID:16195373   PMID:16263121   PMID:16291744   PMID:16376568   PMID:16396496   PMID:16430917  
PMID:16464232   PMID:16502470   PMID:16713569   PMID:16807302   PMID:16820411   PMID:16944923   PMID:16951376   PMID:17081983   PMID:17082780   PMID:17115122   PMID:17311919   PMID:17525629  
PMID:17898132   PMID:17944866   PMID:17965186   PMID:17974975   PMID:18029348   PMID:18341635   PMID:18353764   PMID:18408146   PMID:18519573   PMID:18560563   PMID:18978946   PMID:18985028  
PMID:19056867   PMID:19094982   PMID:19199708   PMID:19247474   PMID:19299420   PMID:19380743   PMID:19715605   PMID:19750481   PMID:19943616   PMID:20037648   PMID:20120020   PMID:20156433  
PMID:20391533   PMID:20634891   PMID:20811636   PMID:20936779   PMID:21078624   PMID:21080425   PMID:21163940   PMID:21182205   PMID:21266579   PMID:21319273   PMID:21362503   PMID:21408150  
PMID:21423176   PMID:21474972   PMID:21653829   PMID:21784188   PMID:21873635   PMID:21988832   PMID:22199357   PMID:22304920   PMID:22351778   PMID:22586326   PMID:22659138   PMID:22689882  
PMID:22863883   PMID:22939629   PMID:23132927   PMID:23139387   PMID:23383273   PMID:23403292   PMID:23434115   PMID:23454549   PMID:23463506   PMID:23533145   PMID:23535732   PMID:23557398  
PMID:23664615   PMID:23969696   PMID:24024966   PMID:24069336   PMID:24169447   PMID:24457600   PMID:24625528   PMID:24711643   PMID:25036637   PMID:25241761   PMID:25277244   PMID:25315684  
PMID:25361813   PMID:25416956   PMID:25429109   PMID:25431851   PMID:25499913   PMID:25662211   PMID:25796446   PMID:25910212   PMID:25921289   PMID:25963833   PMID:26071203   PMID:26096820  
PMID:26186194   PMID:26209609   PMID:26217791   PMID:26344197   PMID:26496610   PMID:26514267   PMID:26609810   PMID:26618866   PMID:26816005   PMID:26854759   PMID:26871637   PMID:26879394  
PMID:27114546   PMID:27173435   PMID:27208173   PMID:27272015   PMID:27357517   PMID:27377895   PMID:27462432   PMID:27575580   PMID:27751915   PMID:28079882   PMID:28130124   PMID:28186131  
PMID:28302793   PMID:28378594   PMID:28443643   PMID:28514442   PMID:28515276   PMID:28524877   PMID:28562514   PMID:28797528   PMID:28977470   PMID:28978906   PMID:28986522   PMID:29102633  
PMID:29117863   PMID:29128334   PMID:29180619   PMID:29229926   PMID:29246944   PMID:29429936   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29742177   PMID:29791485  
PMID:29844126   PMID:29872149   PMID:29961565   PMID:30021884   PMID:30093111   PMID:30124235   PMID:30351444   PMID:30425250   PMID:30455355   PMID:30503554   PMID:30537294   PMID:30554943  
PMID:30575818   PMID:30711629   PMID:30768638   PMID:30809309   PMID:31006538   PMID:31091453   PMID:31237726   PMID:31324722   PMID:31365757   PMID:31409639   PMID:31424140   PMID:31501420  
PMID:31515488   PMID:31527615   PMID:31536960   PMID:31586073   PMID:31796584   PMID:31871319   PMID:31889512   PMID:31995728   PMID:32051585   PMID:32296183   PMID:32322062   PMID:32440097  
PMID:32665550   PMID:32687490   PMID:32707033   PMID:32780723   PMID:32989256   PMID:33144569   PMID:33194618   PMID:33239621   PMID:33413564   PMID:33644029   PMID:33729478   PMID:33762435  
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Genomics

Comparative Map Data
ACTN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381468,874,128 - 68,979,302 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1468,874,123 - 68,979,440 (-)EnsemblGRCh38hg38GRCh38
GRCh371469,340,845 - 69,446,019 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361468,410,793 - 68,515,709 (-)NCBINCBI36Build 36hg18NCBI36
Build 341468,410,792 - 68,515,709NCBI
Celera1449,401,716 - 49,506,993 (-)NCBICelera
Cytogenetic Map14q24.1NCBI
HuRef1449,510,917 - 49,616,121 (-)NCBIHuRef
CHM1_11469,279,215 - 69,384,488 (-)NCBICHM1_1
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBIT2T-CHM13v2.0
Actn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391280,214,316 - 80,307,165 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1280,214,321 - 80,307,145 (-)EnsemblGRCm39 Ensembl
GRCm381280,167,542 - 80,260,420 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1280,167,547 - 80,260,371 (-)EnsemblGRCm38mm10GRCm38
MGSCv371281,268,529 - 81,361,358 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361281,086,387 - 81,179,156 (-)NCBIMGSCv36mm8
Celera1281,632,311 - 81,725,181 (-)NCBICelera
Cytogenetic Map12C3NCBI
cM Map1236.49NCBI
Actn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86104,731,485 - 104,826,312 (-)NCBIGRCr8
mRatBN7.2698,998,553 - 99,093,334 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl698,998,556 - 99,093,251 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx699,420,854 - 99,515,776 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0699,719,945 - 99,814,871 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0699,099,910 - 99,194,634 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06103,376,557 - 103,470,497 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6103,375,799 - 103,470,555 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06116,056,248 - 116,149,471 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46103,188,593 - 103,282,873 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16103,192,048 - 103,286,329NCBI
Celera697,355,796 - 97,450,012 (-)NCBICelera
Cytogenetic Map6q24NCBI
Actn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554661,388,507 - 1,480,282 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554661,388,507 - 1,480,990 (+)NCBIChiLan1.0ChiLan1.0
ACTN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21569,990,975 - 70,096,691 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11469,207,296 - 69,313,200 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01449,460,390 - 49,565,986 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11468,335,694 - 68,440,836 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1468,335,694 - 68,440,836 (-)Ensemblpanpan1.1panPan2
ACTN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1842,714,806 - 42,808,318 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl842,712,142 - 42,808,323 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha842,404,474 - 42,497,710 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0842,945,028 - 43,038,491 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl842,945,037 - 43,038,504 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1842,559,338 - 42,652,710 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0842,634,268 - 42,727,356 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0842,993,500 - 43,086,762 (-)NCBIUU_Cfam_GSD_1.0
Actn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864061,974,520 - 62,067,210 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649512,124,443 - 12,217,242 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649512,124,489 - 12,217,223 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACTN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl792,550,007 - 92,644,842 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1792,550,132 - 92,644,842 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2798,863,871 - 98,874,025 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACTN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12446,089,989 - 46,196,897 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2446,085,751 - 46,196,886 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605334,323,625 - 34,430,616 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Actn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473432,097,671 - 32,192,729 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473432,097,364 - 32,190,162 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACTN1
369 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile) single nucleotide variant Macrothrombocytopenia [RCV000852110]|Platelet-type bleeding disorder 15 [RCV000034866]|not provided [RCV002513345] Chr14:68921033 [GRCh38]
Chr14:69387750 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_001130004.2(ACTN1):c.94C>A (p.Gln32Lys) single nucleotide variant Platelet-type bleeding disorder 15 [RCV000034867] Chr14:68978963 [GRCh38]
Chr14:69445680 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln) single nucleotide variant Platelet-type bleeding disorder 15 [RCV000034868]|not provided [RCV003556110] Chr14:68879987 [GRCh38]
Chr14:69346704 [GRCh37]
Chr14:14q24.1		 pathogenic|uncertain significance
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln) single nucleotide variant Macrothrombocytopenia [RCV000851589]|Platelet-type bleeding disorder 15 [RCV000034869]|not provided [RCV003556111] Chr14:68925641 [GRCh38]
Chr14:69392358 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp) single nucleotide variant Macrothrombocytopenia [RCV001003910]|Platelet-type bleeding disorder 15 [RCV000034870]|not provided [RCV003556112] Chr14:68880030 [GRCh38]
Chr14:69346747 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic|uncertain significance
NM_001130004.2(ACTN1):c.673G>A (p.Glu225Lys) single nucleotide variant Macrothrombocytopenia [RCV000851847]|Platelet-type bleeding disorder 15 [RCV000034871]|not provided [RCV004595895] Chr14:68904658 [GRCh38]
Chr14:69371375 [GRCh37]
Chr14:14q24.1		 pathogenic
GRCh38/hg38 14q24.1(chr14:67876421-69247382)x1 copy number loss See cases [RCV000051547] Chr14:67876421..69247382 [GRCh38]
Chr14:68343138..69714099 [GRCh37]
Chr14:67412891..68783852 [NCBI36]
Chr14:14q24.1		 likely pathogenic
NM_001130004.1(ACTN1):c.1281C>T (p.Leu427=) single nucleotide variant Malignant melanoma [RCV000070587] Chr14:68885529 [GRCh38]
Chr14:69352246 [GRCh37]
Chr14:68421999 [NCBI36]
Chr14:14q24.1		 not provided
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q24.1(chr14:69358173-69437698)x1 copy number loss See cases [RCV000449067] Chr14:69358173..69437698 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg) single nucleotide variant Abnormal bleeding [RCV001270617]|Platelet-type bleeding disorder 15 [RCV001810014] Chr14:68874876 [GRCh38]
Chr14:69341593 [GRCh37]
Chr14:14q24.1		 likely pathogenic|uncertain significance
NM_001130004.2(ACTN1):c.2612G>A (p.Arg871His) single nucleotide variant ACTN1-related disorder [RCV003962357]|not provided [RCV000488971] Chr14:68874992 [GRCh38]
Chr14:69341709 [GRCh37]
Chr14:14q24.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001130004.2(ACTN1):c.2212C>G (p.Arg738Gly) single nucleotide variant not provided [RCV001092308] Chr14:68880030 [GRCh38]
Chr14:69346747 [GRCh37]
Chr14:14q24.1		 likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_001130004.2(ACTN1):c.2473C>T (p.Arg825Cys) single nucleotide variant not provided [RCV000436372] Chr14:68877195 [GRCh38]
Chr14:69343912 [GRCh37]
Chr14:14q24.1		 uncertain significance
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_001130004.2(ACTN1):c.767A>C (p.Glu256Ala) single nucleotide variant Platelet-type bleeding disorder 15 [RCV003313849] Chr14:68893743 [GRCh38]
Chr14:69360460 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2201A>G (p.Gln734Arg) single nucleotide variant Platelet-type bleeding disorder 15 [RCV000609103]|not provided [RCV003688865] Chr14:68880041 [GRCh38]
Chr14:69346758 [GRCh37]
Chr14:14q24.1		 likely pathogenic|uncertain significance
GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1 copy number loss See cases [RCV000512344] Chr14:68035240..73568130 [GRCh37]
Chr14:14q24.1-24.2		 likely pathogenic
NM_001130004.2(ACTN1):c.1027A>T (p.Thr343Ser) single nucleotide variant Macrothrombocytopenia [RCV000851964] Chr14:68892112 [GRCh38]
Chr14:69358829 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.650A>G (p.Asp217Gly) single nucleotide variant Macrothrombocytopenia [RCV000852176] Chr14:68904681 [GRCh38]
Chr14:69371398 [GRCh37]
Chr14:14q24.1		 uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_001130004.2(ACTN1):c.105+18C>T single nucleotide variant not provided [RCV001679842] Chr14:68978934 [GRCh38]
Chr14:69445651 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.676+10G>A single nucleotide variant not provided [RCV000938876] Chr14:68904645 [GRCh38]
Chr14:69371362 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.855+12_855+13insT insertion not provided [RCV001666387] Chr14:68893642..68893643 [GRCh38]
Chr14:69360359..69360360 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1297C>T (p.Leu433=) single nucleotide variant not provided [RCV001680659] Chr14:68885513 [GRCh38]
Chr14:69352230 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.106-56C>T single nucleotide variant not provided [RCV001709432] Chr14:68925728 [GRCh38]
Chr14:69392445 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2252T>C (p.Phe751Ser) single nucleotide variant Platelet-type bleeding disorder 15 [RCV003314543] Chr14:68879990 [GRCh38]
Chr14:69346707 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.516-86T>A single nucleotide variant not provided [RCV001666914] Chr14:68909482 [GRCh38]
Chr14:69376199 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1197C>G (p.Phe399Leu) single nucleotide variant not provided [RCV003239236] Chr14:68890176 [GRCh38]
Chr14:69356893 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1356G>A (p.Glu452=) single nucleotide variant ACTN1-related disorder [RCV003930489]|not provided [RCV000879864] Chr14:68885454 [GRCh38]
Chr14:69352171 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_001130004.2(ACTN1):c.993G>A (p.Lys331=) single nucleotide variant not provided [RCV000972505] Chr14:68892146 [GRCh38]
Chr14:69358863 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.672C>T (p.Ala224=) single nucleotide variant not provided [RCV000972506]|not specified [RCV001819126] Chr14:68904659 [GRCh38]
Chr14:69371376 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2134-10C>T single nucleotide variant not provided [RCV000965942] Chr14:68880118 [GRCh38]
Chr14:69346835 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1272C>T (p.Thr424=) single nucleotide variant ACTN1-related disorder [RCV003910437]|not provided [RCV000884035] Chr14:68885538 [GRCh38]
Chr14:69352255 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.982G>A (p.Val328Met) single nucleotide variant Platelet-type bleeding disorder 15 [RCV000824961]|not provided [RCV003768546] Chr14:68892157 [GRCh38]
Chr14:69358874 [GRCh37]
Chr14:14q24.1		 likely pathogenic|uncertain significance
NM_001130004.2(ACTN1):c.1193A>C (p.Lys398Thr) single nucleotide variant Platelet-type bleeding disorder 15 [RCV000824963] Chr14:68890180 [GRCh38]
Chr14:69356897 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_001130004.2(ACTN1):c.565G>C (p.Glu189Gln) single nucleotide variant not provided [RCV000788582] Chr14:68909347 [GRCh38]
Chr14:69376064 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.676+6A>G single nucleotide variant not provided [RCV000962504]|not specified [RCV001819041] Chr14:68904649 [GRCh38]
Chr14:69371366 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2019G>A (p.Gln673=) single nucleotide variant not provided [RCV000897194]|not specified [RCV004768735] Chr14:68880924 [GRCh38]
Chr14:69347641 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_001130004.2(ACTN1):c.1128G>A (p.Lys376=) single nucleotide variant not provided [RCV000908725] Chr14:68890245 [GRCh38]
Chr14:69356962 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala) single nucleotide variant Macrothrombocytopenia [RCV000852076]|Platelet-type bleeding disorder 15 [RCV002245656] Chr14:68880033 [GRCh38]
Chr14:69346750 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.770C>G (p.Thr257Arg) single nucleotide variant Macrothrombocytopenia [RCV000851878]|Platelet-type bleeding disorder 15 [RCV000824959]|Thrombocytopenia [RCV001003913] Chr14:68893740 [GRCh38]
Chr14:69360457 [GRCh37]
Chr14:14q24.1		 likely pathogenic|uncertain significance
NM_001130004.2(ACTN1):c.970A>G (p.Lys324Glu) single nucleotide variant Platelet-type bleeding disorder 15 [RCV000824960] Chr14:68892169 [GRCh38]
Chr14:69358886 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_001130004.2(ACTN1):c.986A>G (p.Gln329Arg) single nucleotide variant Platelet-type bleeding disorder 15 [RCV000824962] Chr14:68892153 [GRCh38]
Chr14:69358870 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_001130004.2(ACTN1):c.1295C>T (p.Ala432Val) single nucleotide variant Platelet-type bleeding disorder 15 [RCV000824964] Chr14:68885515 [GRCh38]
Chr14:69352232 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_001130004.2(ACTN1):c.1348C>T (p.Arg450Cys) single nucleotide variant Platelet-type bleeding disorder 15 [RCV000824965] Chr14:68885462 [GRCh38]
Chr14:69352179 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_001130004.2(ACTN1):c.1349G>A (p.Arg450His) single nucleotide variant Platelet-type bleeding disorder 15 [RCV000824966]|not provided [RCV003768547] Chr14:68885461 [GRCh38]
Chr14:69352178 [GRCh37]
Chr14:14q24.1		 likely pathogenic|uncertain significance
NM_001130004.2(ACTN1):c.1864C>T (p.His622Tyr) single nucleotide variant Platelet-type bleeding disorder 15 [RCV000824967] Chr14:68882547 [GRCh38]
Chr14:69349264 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_001130004.2(ACTN1):c.2243T>A (p.Met748Lys) single nucleotide variant ACTN1-related disorder [RCV003411820]|Platelet-type bleeding disorder 15 [RCV000824969] Chr14:68879999 [GRCh38]
Chr14:69346716 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_001130004.2(ACTN1):c.1600G>C (p.Asp534His) single nucleotide variant Thrombocytopenia [RCV000852040] Chr14:68884203 [GRCh38]
Chr14:69350920 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.276C>T (p.Asn92=) single nucleotide variant not provided [RCV000980569] Chr14:68921070 [GRCh38]
Chr14:69387787 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2186A>G (p.Asn729Ser) single nucleotide variant Platelet-type bleeding disorder 15 [RCV003313987]|not provided [RCV001092309] Chr14:68880056 [GRCh38]
Chr14:69346773 [GRCh37]
Chr14:14q24.1		 uncertain significance
GRCh37/hg19 14q24.1(chr14:69364029-69478695)x3 copy number gain not provided [RCV000849789] Chr14:69364029..69478695 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1159C>T (p.Arg387Trp) single nucleotide variant Abnormal bleeding [RCV000851998] Chr14:68890214 [GRCh38]
Chr14:69356931 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2267A>G (p.Asn756Ser) single nucleotide variant Abnormal platelet function [RCV000852080] Chr14:68879975 [GRCh38]
Chr14:69346692 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2587-26C>T single nucleotide variant Macrothrombocytopenia [RCV000852090] Chr14:68875043 [GRCh38]
Chr14:69341760 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.415A>G (p.Ile139Val) single nucleotide variant Thrombocytopenia [RCV000852118] Chr14:68912168 [GRCh38]
Chr14:69378885 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met) single nucleotide variant Macrothrombocytopenia [RCV000851935]|Platelet-type bleeding disorder 15 [RCV002222628]|not provided [RCV002533973] Chr14:68880984 [GRCh38]
Chr14:69347701 [GRCh37]
Chr14:14q24.1		 likely pathogenic|uncertain significance
NM_001130004.2(ACTN1):c.1592A>T (p.Asp531Val) single nucleotide variant Thrombocytopenia [RCV000852037] Chr14:68884211 [GRCh38]
Chr14:69350928 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_001130004.2(ACTN1):c.299T>C (p.Ile100Thr) single nucleotide variant Macrothrombocytopenia [RCV000852101] Chr14:68921047 [GRCh38]
Chr14:69387764 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1770C>A (p.Asn590Lys) single nucleotide variant Macrothrombocytopenia [RCV001003911]|Thrombocytopenia [RCV000851719] Chr14:68882921 [GRCh38]
Chr14:69349638 [GRCh37]
Chr14:14q24.1		 likely pathogenic|uncertain significance
NM_001130004.2(ACTN1):c.1592_1593insGGGGCCATGGAG (p.Asp531delinsGluGlyProTrpSer) insertion Thrombocytopenia [RCV000851958] Chr14:68884210..68884211 [GRCh38]
Chr14:69350927..69350928 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_001130004.2(ACTN1):c.1181A>G (p.His394Arg) single nucleotide variant Macrothrombocytopenia [RCV000852004]|Platelet-type bleeding disorder 15 [RCV002280890] Chr14:68890192 [GRCh38]
Chr14:69356909 [GRCh37]
Chr14:14q24.1		 pathogenic|uncertain significance
NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp) single nucleotide variant ACTN1-related disorder [RCV004745580]|Inborn genetic diseases [RCV001265697]|Macrothrombocytopenia [RCV001003914]|Platelet-type bleeding disorder 15 [RCV002245646]|Thrombocytopenia [RCV000851690]|not provided [RCV002536611] Chr14:68925642 [GRCh38]
Chr14:69392359 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_001130004.2(ACTN1):c.1640T>C (p.Leu547Pro) single nucleotide variant Macrothrombocytopenia [RCV000851929] Chr14:68883051 [GRCh38]
Chr14:69349768 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_001130004.2(ACTN1):c.1294G>A (p.Ala432Thr) single nucleotide variant ACTN1-related disorder [RCV003396340]|Macrothrombocytopenia [RCV000852008]|Platelet-type bleeding disorder 15 [RCV002245653] Chr14:68885516 [GRCh38]
Chr14:69352233 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.652A>G (p.Ile218Val) single nucleotide variant Thrombocytopenia [RCV000852177] Chr14:68904679 [GRCh38]
Chr14:69371396 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.340+10_340+13del deletion Platelet-type bleeding disorder 15 [RCV003313892] Chr14:68920993..68920996 [GRCh38]
Chr14:69387710..69387713 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.220+11A>C single nucleotide variant not provided [RCV003106354] Chr14:68925547 [GRCh38]
Chr14:69392264 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.427+158A>G single nucleotide variant not provided [RCV001638726] Chr14:68911998 [GRCh38]
Chr14:69378715 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1953+137T>C single nucleotide variant not provided [RCV001675299] Chr14:68882321 [GRCh38]
Chr14:69349038 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.428-212C>T single nucleotide variant not provided [RCV001666521] Chr14:68910254 [GRCh38]
Chr14:69376971 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.220+217_220+218dup duplication not provided [RCV001721724] Chr14:68925318..68925319 [GRCh38]
Chr14:69392035..69392036 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1954-49G>A single nucleotide variant not provided [RCV001649552] Chr14:68881038 [GRCh38]
Chr14:69347755 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2663C>T (p.Pro888Leu) single nucleotide variant not provided [RCV001572758]|not specified [RCV001702921] Chr14:68874941 [GRCh38]
Chr14:69341658 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_001130004.2(ACTN1):c.2586+95C>T single nucleotide variant not provided [RCV001665680] Chr14:68876987 [GRCh38]
Chr14:69343704 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1424G>A (p.Arg475His) single nucleotide variant Inborn genetic diseases [RCV003293791] Chr14:68884845 [GRCh38]
Chr14:69351562 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1932C>T (p.Pro644=) single nucleotide variant not provided [RCV000888174] Chr14:68882479 [GRCh38]
Chr14:69349196 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2134-9G>A single nucleotide variant not provided [RCV000908633] Chr14:68880117 [GRCh38]
Chr14:69346834 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1683C>T (p.Ala561=) single nucleotide variant ACTN1-related disorder [RCV003932933]|not provided [RCV000908213] Chr14:68883008 [GRCh38]
Chr14:69349725 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_001130004.2(ACTN1):c.2625A>G (p.Pro875=) single nucleotide variant not provided [RCV000933374] Chr14:68874979 [GRCh38]
Chr14:69341696 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1410C>T (p.Pro470=) single nucleotide variant not provided [RCV000952725] Chr14:68884859 [GRCh38]
Chr14:69351576 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1734T>C (p.Ile578=) single nucleotide variant not provided [RCV000934727] Chr14:68882957 [GRCh38]
Chr14:69349674 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.716T>C (p.Met239Thr) single nucleotide variant not provided [RCV003235855] Chr14:68902523 [GRCh38]
Chr14:69369240 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1787C>T (p.Thr596Met) single nucleotide variant Inborn genetic diseases [RCV003242545] Chr14:68882904 [GRCh38]
Chr14:69349621 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1953+121A>G single nucleotide variant not provided [RCV001619579] Chr14:68882337 [GRCh38]
Chr14:69349054 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2361+59G>A single nucleotide variant not provided [RCV001677663] Chr14:68878930 [GRCh38]
Chr14:69345647 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1953+114G>A single nucleotide variant not provided [RCV001595722] Chr14:68882344 [GRCh38]
Chr14:69349061 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2028G>A (p.Lys676=) single nucleotide variant not provided [RCV001619115] Chr14:68880915 [GRCh38]
Chr14:69347632 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1636-286G>C single nucleotide variant not provided [RCV001685221] Chr14:68883341 [GRCh38]
Chr14:69350058 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.515+14T>G single nucleotide variant not provided [RCV001655223] Chr14:68909941 [GRCh38]
Chr14:69376658 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.220+238_220+239del deletion not provided [RCV001621767] Chr14:68925319..68925320 [GRCh38]
Chr14:69392036..69392037 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.676+167G>A single nucleotide variant not provided [RCV001643293] Chr14:68904488 [GRCh38]
Chr14:69371205 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.220+239del deletion not provided [RCV001658445] Chr14:68925319 [GRCh38]
Chr14:69392036 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.515+193T>C single nucleotide variant not provided [RCV001715995] Chr14:68909762 [GRCh38]
Chr14:69376479 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2134-99G>A single nucleotide variant not provided [RCV001618797] Chr14:68880207 [GRCh38]
Chr14:69346924 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2427+206C>T single nucleotide variant not provided [RCV001680419] Chr14:68878252 [GRCh38]
Chr14:69344969 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.428-88A>G single nucleotide variant not provided [RCV001713923] Chr14:68910130 [GRCh38]
Chr14:69376847 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.763-167A>G single nucleotide variant not provided [RCV001609867] Chr14:68893914 [GRCh38]
Chr14:69360631 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2587-178T>C single nucleotide variant not provided [RCV001640925] Chr14:68875195 [GRCh38]
Chr14:69341912 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1635+124C>A single nucleotide variant not provided [RCV001611185] Chr14:68884044 [GRCh38]
Chr14:69350761 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1953+324G>A single nucleotide variant not provided [RCV001614385] Chr14:68882134 [GRCh38]
Chr14:69348851 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.105+23T>C single nucleotide variant not provided [RCV001681194] Chr14:68978929 [GRCh38]
Chr14:69445646 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.220+216T>A single nucleotide variant not provided [RCV001616538] Chr14:68925342 [GRCh38]
Chr14:69392059 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.428-51C>T single nucleotide variant not provided [RCV001666463] Chr14:68910093 [GRCh38]
Chr14:69376810 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.594+196C>A single nucleotide variant not provided [RCV001648648] Chr14:68909122 [GRCh38]
Chr14:69375839 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1086+144C>T single nucleotide variant not provided [RCV001725457] Chr14:68891909 [GRCh38]
Chr14:69358626 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.676+217A>T single nucleotide variant not provided [RCV001690875] Chr14:68904438 [GRCh38]
Chr14:69371155 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.427+10T>C single nucleotide variant not provided [RCV001613754] Chr14:68912146 [GRCh38]
Chr14:69378863 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.428-224A>G single nucleotide variant not provided [RCV001695070] Chr14:68910266 [GRCh38]
Chr14:69376983 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1019C>T (p.Thr340Met) single nucleotide variant Macrothrombocytopenia [RCV001003912]|not provided [RCV001772185] Chr14:68892120 [GRCh38]
Chr14:69358837 [GRCh37]
Chr14:14q24.1		 likely pathogenic|uncertain significance
NM_001130004.2(ACTN1):c.1306A>G (p.Lys436Glu) single nucleotide variant Inborn genetic diseases [RCV001266907] Chr14:68885504 [GRCh38]
Chr14:69352221 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.516-221A>G single nucleotide variant not provided [RCV001663282] Chr14:68909617 [GRCh38]
Chr14:69376334 [GRCh37]
Chr14:14q24.1		 benign
NC_000014.9:g.68979396C>A single nucleotide variant not provided [RCV001663219] Chr14:68979396 [GRCh38]
Chr14:69446113 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1953+251T>C single nucleotide variant not provided [RCV001642100] Chr14:68882207 [GRCh38]
Chr14:69348924 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.959G>A (p.Arg320Gln) single nucleotide variant ACTN1-related disorder [RCV003918815]|Inborn genetic diseases [RCV001267467]|Platelet-type bleeding disorder 15 [RCV004594261]|not provided [RCV003558781] Chr14:68892180 [GRCh38]
Chr14:69358897 [GRCh37]
Chr14:14q24.1		 likely pathogenic|uncertain significance
NM_001130004.2(ACTN1):c.515+49C>T single nucleotide variant not provided [RCV001642131] Chr14:68909906 [GRCh38]
Chr14:69376623 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2587-172C>T single nucleotide variant not provided [RCV001539089] Chr14:68875189 [GRCh38]
Chr14:69341906 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1818+62T>C single nucleotide variant not provided [RCV001668708] Chr14:68882811 [GRCh38]
Chr14:69349528 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1954-246C>T single nucleotide variant not provided [RCV001710867] Chr14:68881235 [GRCh38]
Chr14:69347952 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1953+310G>T single nucleotide variant not provided [RCV001709209] Chr14:68882148 [GRCh38]
Chr14:69348865 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1087-172C>A single nucleotide variant not provided [RCV001615023] Chr14:68890458 [GRCh38]
Chr14:69357175 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1087-262G>A single nucleotide variant not provided [RCV001688387] Chr14:68890548 [GRCh38]
Chr14:69357265 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.-105AGCCC[5] microsatellite not provided [RCV001695353] Chr14:68979141..68979142 [GRCh38]
Chr14:69445858..69445859 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.428-16A>G single nucleotide variant not provided [RCV001686922] Chr14:68910058 [GRCh38]
Chr14:69376775 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.856-197C>T single nucleotide variant not provided [RCV001671585] Chr14:68892480 [GRCh38]
Chr14:69359197 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2280+253del deletion not provided [RCV001617239] Chr14:68879709 [GRCh38]
Chr14:69346426 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.427+175G>A single nucleotide variant not provided [RCV001715228] Chr14:68911981 [GRCh38]
Chr14:69378698 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.516-52G>A single nucleotide variant not provided [RCV001694418] Chr14:68909448 [GRCh38]
Chr14:69376165 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.855+12C>T single nucleotide variant not provided [RCV001715991] Chr14:68893643 [GRCh38]
Chr14:69360360 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.341-94T>C single nucleotide variant not provided [RCV001715994] Chr14:68912336 [GRCh38]
Chr14:69379053 [GRCh37]
Chr14:14q24.1		 benign
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 copy number gain 14q22.2q24.3 duplication [RCV001506967] Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3		 likely pathogenic
NM_001130004.2(ACTN1):c.105+284C>A single nucleotide variant not provided [RCV001537064] Chr14:68978668 [GRCh38]
Chr14:68978668..68978669 [GRCh38]
Chr14:69445385 [GRCh37]
Chr14:69445385..69445386 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.676+9C>T single nucleotide variant Platelet-type bleeding disorder 15 [RCV002245415]|not provided [RCV003101324] Chr14:68904646 [GRCh38]
Chr14:69371363 [GRCh37]
Chr14:14q24.1		 benign|uncertain significance
NM_001130004.2(ACTN1):c.1018A>G (p.Thr340Ala) single nucleotide variant ACTN1-related disorder [RCV003903634]|Platelet-type bleeding disorder 15 [RCV002245468] Chr14:68892121 [GRCh38]
Chr14:69358838 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.715A>G (p.Met239Val) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002245476] Chr14:68902524 [GRCh38]
Chr14:69369241 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2141G>A (p.Arg714His) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002280906]|not provided [RCV001767044] Chr14:68880101 [GRCh38]
Chr14:69346818 [GRCh37]
Chr14:14q24.1		 pathogenic|uncertain significance
NM_001130004.2(ACTN1):c.2140C>G (p.Arg714Gly) single nucleotide variant not provided [RCV001773077] Chr14:68880102 [GRCh38]
Chr14:69346819 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.535T>C (p.Phe179Leu) single nucleotide variant not provided [RCV001754038] Chr14:68909377 [GRCh38]
Chr14:69376094 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2651C>T (p.Ala884Val) single nucleotide variant not provided [RCV001786877] Chr14:68874953 [GRCh38]
Chr14:69341670 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.580G>A (p.Gly194Arg) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002282579]|not provided [RCV003565494]|not specified [RCV001817336] Chr14:68909332 [GRCh38]
Chr14:69376049 [GRCh37]
Chr14:14q24.1		 likely benign|uncertain significance
NM_001130004.2(ACTN1):c.2140C>T (p.Arg714Cys) single nucleotide variant not specified [RCV001819635] Chr14:68880102 [GRCh38]
Chr14:69346819 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1926C>T (p.Ile642=) single nucleotide variant not provided [RCV002541997]|not specified [RCV001817455] Chr14:68882485 [GRCh38]
Chr14:69349202 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_001130004.2(ACTN1):c.516-9C>T single nucleotide variant not specified [RCV001819663] Chr14:68909405 [GRCh38]
Chr14:69376122 [GRCh37]
Chr14:14q24.1		 likely benign
GRCh37/hg19 14q24.1(chr14:69358173-69437698) copy number loss not specified [RCV002053112] Chr14:69358173..69437698 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2302C>A (p.Pro768Thr) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002245466] Chr14:68879048 [GRCh38]
Chr14:69345765 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2176A>G (p.Arg726Gly) single nucleotide variant not provided [RCV002211271] Chr14:68880066 [GRCh38]
Chr14:69346783 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2126C>T (p.Thr709Ile) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002245470] Chr14:68880817 [GRCh38]
Chr14:69347534 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2108A>G (p.Asn703Ser) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002245471] Chr14:68880835 [GRCh38]
Chr14:69347552 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2213G>A (p.Arg738Gln) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002245477] Chr14:68880029 [GRCh38]
Chr14:69346746 [GRCh37]
Chr14:14q24.1		 pathogenic|likely pathogenic
NM_001130004.2(ACTN1):c.2658G>A (p.Met886Ile) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002223105] Chr14:68874946 [GRCh38]
Chr14:69341663 [GRCh37]
Chr14:14q24.1		 uncertain significance
NC_000014.8:g.(?_68699594)_(70654407_?)del deletion not provided [RCV003122350] Chr14:68699594..70654407 [GRCh37]
Chr14:14q24.1-24.2		 pathogenic
NM_001130004.2(ACTN1):c.1040T>C (p.Leu347Pro) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002245467] Chr14:68892099 [GRCh38]
Chr14:69358816 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.384G>T (p.Trp128Cys) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002245469] Chr14:68912199 [GRCh38]
Chr14:69378916 [GRCh37]
Chr14:14q24.1		 pathogenic
NM_001130004.2(ACTN1):c.127T>A (p.Ser43Thr) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002245472] Chr14:68925651 [GRCh38]
Chr14:69392368 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_001130004.2(ACTN1):c.919C>T (p.His307Tyr) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002245475] Chr14:68892220 [GRCh38]
Chr14:69358937 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2342A>G (p.Asp781Gly) single nucleotide variant not provided [RCV002269510] Chr14:68879008 [GRCh38]
Chr14:69345725 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.342A>C (p.Glu114Asp) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002261476] Chr14:68912241 [GRCh38]
Chr14:69378958 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_001130004.2(ACTN1):c.2255G>C (p.Arg752Pro) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002281016] Chr14:68879987 [GRCh38]
Chr14:69346704 [GRCh37]
Chr14:14q24.1		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_001130004.2(ACTN1):c.2551G>A (p.Val851Ile) single nucleotide variant Platelet-type bleeding disorder 15 [RCV002281535] Chr14:68877117 [GRCh38]
Chr14:69343834 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_001130004.2(ACTN1):c.2228T>C (p.Ile743Thr) single nucleotide variant not provided [RCV002858316] Chr14:68880014 [GRCh38]
Chr14:69346731 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.631_651del (p.Val211_Asp217del) deletion Platelet-type bleeding disorder 15 [RCV002471532] Chr14:68904680..68904700 [GRCh38]
Chr14:69371397..69371417 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2668A>T (p.Thr890Ser) single nucleotide variant not provided [RCV002861577] Chr14:68874936 [GRCh38]
Chr14:69341653 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1854G>A (p.Leu618=) single nucleotide variant not provided [RCV002837525] Chr14:68882557 [GRCh38]
Chr14:69349274 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1856C>T (p.Thr619Met) single nucleotide variant Inborn genetic diseases [RCV003269351]|not provided [RCV002975278] Chr14:68882555 [GRCh38]
Chr14:69349272 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1707G>A (p.Leu569=) single nucleotide variant not provided [RCV003075513] Chr14:68882984 [GRCh38]
Chr14:69349701 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2362-5C>G single nucleotide variant not provided [RCV002947731] Chr14:68878528 [GRCh38]
Chr14:69345245 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1692G>A (p.Glu564=) single nucleotide variant not provided [RCV002618405] Chr14:68882999 [GRCh38]
Chr14:69349716 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1776C>T (p.Tyr592=) single nucleotide variant not provided [RCV003035245] Chr14:68882915 [GRCh38]
Chr14:69349632 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2727C>T (p.Tyr909=) single nucleotide variant not provided [RCV002975223] Chr14:68874877 [GRCh38]
Chr14:69341594 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2640G>C (p.Glu880Asp) single nucleotide variant not provided [RCV002727282] Chr14:68874964 [GRCh38]
Chr14:69341681 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2519G>A (p.Arg840His) single nucleotide variant not provided [RCV002755856] Chr14:68877149 [GRCh38]
Chr14:69343866 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1233C>T (p.Asp411=) single nucleotide variant not provided [RCV002751166] Chr14:68890140 [GRCh38]
Chr14:69356857 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.621G>A (p.Thr207=) single nucleotide variant not provided [RCV002615484] Chr14:68904710 [GRCh38]
Chr14:69371427 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1218C>T (p.His406=) single nucleotide variant not provided [RCV002615563] Chr14:68890155 [GRCh38]
Chr14:69356872 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2239C>G (p.Gln747Glu) single nucleotide variant not provided [RCV002970764] Chr14:68880003 [GRCh38]
Chr14:69346720 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2611C>T (p.Arg871Cys) single nucleotide variant not provided [RCV002776231] Chr14:68874993 [GRCh38]
Chr14:69341710 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.676+4A>G single nucleotide variant not provided [RCV002618009] Chr14:68904651 [GRCh38]
Chr14:69371368 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1158C>A (p.Ile386=) single nucleotide variant not provided [RCV002881812] Chr14:68890215 [GRCh38]
Chr14:69356932 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1133A>G (p.Tyr378Cys) single nucleotide variant not provided [RCV002996022] Chr14:68890240 [GRCh38]
Chr14:69356957 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1081G>A (p.Val361Ile) single nucleotide variant not provided [RCV002846815] Chr14:68892058 [GRCh38]
Chr14:69358775 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1268A>G (p.Glu423Gly) single nucleotide variant Inborn genetic diseases [RCV002739641] Chr14:68885542 [GRCh38]
Chr14:69352259 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1385+15A>G single nucleotide variant not provided [RCV002572039] Chr14:68885410 [GRCh38]
Chr14:69352127 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.935A>G (p.Lys312Arg) single nucleotide variant Inborn genetic diseases [RCV002823510] Chr14:68892204 [GRCh38]
Chr14:69358921 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1819-13G>A single nucleotide variant not provided [RCV002781092] Chr14:68882605 [GRCh38]
Chr14:69349322 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2396G>A (p.Arg799His) single nucleotide variant Inborn genetic diseases [RCV002760054] Chr14:68878489 [GRCh38]
Chr14:69345206 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.427+13T>C single nucleotide variant not provided [RCV002847290] Chr14:68912143 [GRCh38]
Chr14:69378860 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1585A>G (p.Met529Val) single nucleotide variant not provided [RCV002736625] Chr14:68884218 [GRCh38]
Chr14:69350935 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2364G>A (p.Lys788=) single nucleotide variant not provided [RCV002867150] Chr14:68878521 [GRCh38]
Chr14:69345238 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2115C>T (p.His705=) single nucleotide variant not provided [RCV002913035] Chr14:68880828 [GRCh38]
Chr14:69347545 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.884C>T (p.Pro295Leu) single nucleotide variant Inborn genetic diseases [RCV002620364]|not provided [RCV002620363] Chr14:68892255 [GRCh38]
Chr14:69358972 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1761G>A (p.Ala587=) single nucleotide variant not provided [RCV002619622] Chr14:68882930 [GRCh38]
Chr14:69349647 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.875G>A (p.Arg292His) single nucleotide variant not provided [RCV002620572] Chr14:68892264 [GRCh38]
Chr14:69358981 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1004A>C (p.Glu335Ala) single nucleotide variant not provided [RCV002510136] Chr14:68892135 [GRCh38]
Chr14:69358852 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.127T>G (p.Ser43Ala) single nucleotide variant Platelet-type bleeding disorder 15 [RCV004698568]|not provided [RCV002706153] Chr14:68925651 [GRCh38]
Chr14:69392368 [GRCh37]
Chr14:14q24.1		 likely benign|uncertain significance
NM_001130004.2(ACTN1):c.1234+6G>A single nucleotide variant not provided [RCV002706181] Chr14:68890133 [GRCh38]
Chr14:69356850 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.767A>G (p.Glu256Gly) single nucleotide variant Inborn genetic diseases [RCV002869255] Chr14:68893743 [GRCh38]
Chr14:69360460 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2520C>T (p.Arg840=) single nucleotide variant ACTN1-related disorder [RCV003961166]|not provided [RCV002912999] Chr14:68877148 [GRCh38]
Chr14:69343865 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_001130004.2(ACTN1):c.885G>A (p.Pro295=) single nucleotide variant ACTN1-related disorder [RCV004747147]|not provided [RCV002913577] Chr14:68892254 [GRCh38]
Chr14:69358971 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_001130004.2(ACTN1):c.1199G>A (p.Arg400Gln) single nucleotide variant not provided [RCV003080963] Chr14:68890174 [GRCh38]
Chr14:69356891 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.631G>A (p.Val211Met) single nucleotide variant Inborn genetic diseases [RCV002997944] Chr14:68904700 [GRCh38]
Chr14:69371417 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.106-12G>C single nucleotide variant not provided [RCV002781073] Chr14:68925684 [GRCh38]
Chr14:69392401 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.843G>A (p.Lys281=) single nucleotide variant ACTN1-related disorder [RCV003943576]|not provided [RCV002932656] Chr14:68893667 [GRCh38]
Chr14:69360384 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.826A>G (p.Met276Val) single nucleotide variant Inborn genetic diseases [RCV002804620] Chr14:68893684 [GRCh38]
Chr14:69360401 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.682G>A (p.Val228Ile) single nucleotide variant not provided [RCV003041208] Chr14:68902557 [GRCh38]
Chr14:69369274 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2280+17G>T single nucleotide variant not provided [RCV002805703] Chr14:68879945 [GRCh38]
Chr14:69346662 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.693C>T (p.Ala231=) single nucleotide variant not provided [RCV002572482] Chr14:68902546 [GRCh38]
Chr14:69369263 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1635+11C>T single nucleotide variant not provided [RCV002574359] Chr14:68884157 [GRCh38]
Chr14:69350874 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.762+7G>C single nucleotide variant not provided [RCV003040405] Chr14:68902470 [GRCh38]
Chr14:69369187 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.560G>A (p.Arg187Gln) single nucleotide variant Inborn genetic diseases [RCV003004846]|not provided [RCV003992733] Chr14:68909352 [GRCh38]
Chr14:69376069 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.558C>T (p.His186=) single nucleotide variant not provided [RCV002663592] Chr14:68909354 [GRCh38]
Chr14:69376071 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.855+13G>A single nucleotide variant not provided [RCV002790298] Chr14:68893642 [GRCh38]
Chr14:69360359 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.817G>A (p.Glu273Lys) single nucleotide variant Inborn genetic diseases [RCV002642847]|not provided [RCV002653330] Chr14:68893693 [GRCh38]
Chr14:69360410 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1791T>G (p.Pro597=) single nucleotide variant not provided [RCV003085193] Chr14:68882900 [GRCh38]
Chr14:69349617 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.762+9G>A single nucleotide variant not provided [RCV002721165] Chr14:68902468 [GRCh38]
Chr14:69369185 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.328A>G (p.Ile110Val) single nucleotide variant not provided [RCV002630470] Chr14:68921018 [GRCh38]
Chr14:69387735 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.516-19C>A single nucleotide variant not provided [RCV002650191] Chr14:68909415 [GRCh38]
Chr14:69376132 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.166G>A (p.Glu56Lys) single nucleotide variant not provided [RCV002720743] Chr14:68925612 [GRCh38]
Chr14:69392329 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.244C>A (p.Arg82=) single nucleotide variant not provided [RCV003011244] Chr14:68921102 [GRCh38]
Chr14:69387819 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2340T>C (p.Tyr780=) single nucleotide variant not provided [RCV002807245] Chr14:68879010 [GRCh38]
Chr14:69345727 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2384C>T (p.Thr795Met) single nucleotide variant Inborn genetic diseases [RCV002714453]|not provided [RCV003575026] Chr14:68878501 [GRCh38]
Chr14:69345218 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2605G>A (p.Glu869Lys) single nucleotide variant Inborn genetic diseases [RCV002898210] Chr14:68874999 [GRCh38]
Chr14:69341716 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2728G>A (p.Gly910Ser) single nucleotide variant not provided [RCV002598380] Chr14:68874876 [GRCh38]
Chr14:69341593 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2671G>T (p.Gly891Cys) single nucleotide variant not provided [RCV002959265] Chr14:68874933 [GRCh38]
Chr14:69341650 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.949C>T (p.Arg317Trp) single nucleotide variant not provided [RCV002715995] Chr14:68892190 [GRCh38]
Chr14:69358907 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2705T>C (p.Met902Thr) single nucleotide variant Inborn genetic diseases [RCV002809107] Chr14:68874899 [GRCh38]
Chr14:69341616 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.779A>G (p.Asn260Ser) single nucleotide variant not provided [RCV002715487] Chr14:68893731 [GRCh38]
Chr14:69360448 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2268C>T (p.Asn756=) single nucleotide variant not provided [RCV002715865] Chr14:68879974 [GRCh38]
Chr14:69346691 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.315C>A (p.Val105=) single nucleotide variant ACTN1-related disorder [RCV003963491]|not provided [RCV002966478] Chr14:68921031 [GRCh38]
Chr14:69387748 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1454A>G (p.Asn485Ser) single nucleotide variant ACTN1-related disorder [RCV003963604]|not provided [RCV003090776] Chr14:68884815 [GRCh38]
Chr14:69351532 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_001130004.2(ACTN1):c.2280+19G>C single nucleotide variant not provided [RCV002602071] Chr14:68879943 [GRCh38]
Chr14:69346660 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2614C>T (p.Arg872Cys) single nucleotide variant Platelet-type bleeding disorder 15 [RCV003313816]|not provided [RCV002579334] Chr14:68874990 [GRCh38]
Chr14:69341707 [GRCh37]
Chr14:14q24.1		 likely benign|uncertain significance
NM_001130004.2(ACTN1):c.1701C>T (p.Ala567=) single nucleotide variant not provided [RCV003046422] Chr14:68882990 [GRCh38]
Chr14:69349707 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2281-17G>A single nucleotide variant not provided [RCV002811291] Chr14:68879086 [GRCh38]
Chr14:69345803 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2660C>A (p.Ala887Asp) single nucleotide variant not provided [RCV002811299] Chr14:68874944 [GRCh38]
Chr14:69341661 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1636-13C>A single nucleotide variant not provided [RCV003029800] Chr14:68883068 [GRCh38]
Chr14:69349785 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.872G>A (p.Arg291His) single nucleotide variant ACTN1-related disorder [RCV003963671]|not provided [RCV002588750] Chr14:68892267 [GRCh38]
Chr14:69358984 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_001130004.2(ACTN1):c.2474G>A (p.Arg825His) single nucleotide variant Platelet-type bleeding disorder 15 [RCV003147824]|not provided [RCV002610479] Chr14:68877194 [GRCh38]
Chr14:69343911 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.723C>T (p.Tyr241=) single nucleotide variant ACTN1-related disorder [RCV003926748]|not provided [RCV002633836] Chr14:68902516 [GRCh38]
Chr14:69369233 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_001130004.2(ACTN1):c.657C>G (p.Pro219=) single nucleotide variant not provided [RCV002658180] Chr14:68904674 [GRCh38]
Chr14:69371391 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.113C>T (p.Thr38Met) single nucleotide variant Inborn genetic diseases [RCV003161951]|not provided [RCV002603285] Chr14:68925665 [GRCh38]
Chr14:69392382 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2166C>T (p.Thr722=) single nucleotide variant not provided [RCV003092984] Chr14:68880076 [GRCh38]
Chr14:69346793 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.579C>T (p.Tyr193=) single nucleotide variant ACTN1-related disorder [RCV003953845]|not provided [RCV003067165] Chr14:68909333 [GRCh38]
Chr14:69376050 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.146G>A (p.Gly49Glu) single nucleotide variant ACTN1-related disorder [RCV003409903]|not provided [RCV002676720] Chr14:68925632 [GRCh38]
Chr14:69392349 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1822C>T (p.Arg608Trp) single nucleotide variant Inborn genetic diseases [RCV003190569] Chr14:68882589 [GRCh38]
Chr14:69349306 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2482G>A (p.Val828Ile) single nucleotide variant Platelet-type bleeding disorder 15 [RCV003141186] Chr14:68877186 [GRCh38]
Chr14:69343903 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1933T>G (p.Trp645Gly) single nucleotide variant Inborn genetic diseases [RCV003204388] Chr14:68882478 [GRCh38]
Chr14:69349195 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2726A>G (p.Tyr909Cys) single nucleotide variant not provided [RCV003228247] Chr14:68874878 [GRCh38]
Chr14:69341595 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2200C>A (p.Gln734Lys) single nucleotide variant not provided [RCV003328777] Chr14:68880042 [GRCh38]
Chr14:69346759 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.29A>G (p.Asn10Ser) single nucleotide variant Platelet-type bleeding disorder 15 [RCV003333889] Chr14:68979028 [GRCh38]
Chr14:69445745 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.428-4A>T single nucleotide variant not specified [RCV003331871] Chr14:68910046 [GRCh38]
Chr14:69376763 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2290G>A (p.Gly764Ser) single nucleotide variant not specified [RCV003331692] Chr14:68879060 [GRCh38]
Chr14:69345777 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2055T>G (p.Ile685Met) single nucleotide variant Inborn genetic diseases [RCV003360081] Chr14:68880888 [GRCh38]
Chr14:69347605 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1871G>A (p.Arg624Gln) single nucleotide variant Inborn genetic diseases [RCV003378392] Chr14:68882540 [GRCh38]
Chr14:69349257 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.391A>G (p.Ile131Val) single nucleotide variant not provided [RCV003332869] Chr14:68912192 [GRCh38]
Chr14:69378909 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.556C>T (p.His186Tyr) single nucleotide variant Inborn genetic diseases [RCV003376558] Chr14:68909356 [GRCh38]
Chr14:69376073 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2362-5C>A single nucleotide variant not provided [RCV003874076] Chr14:68878528 [GRCh38]
Chr14:69345245 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1929G>A (p.Gly643=) single nucleotide variant not provided [RCV003570885] Chr14:68882482 [GRCh38]
Chr14:69349199 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2304C>T (p.Pro768=) single nucleotide variant not provided [RCV003569790] Chr14:68879046 [GRCh38]
Chr14:69345763 [GRCh37]
Chr14:14q24.1		 benign
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
NM_001130004.2(ACTN1):c.2444C>T (p.Ala815Val) single nucleotide variant not provided [RCV003441409] Chr14:68877224 [GRCh38]
Chr14:69343941 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1684G>A (p.Asp562Asn) single nucleotide variant Platelet-type bleeding disorder 15 [RCV003448715]|not provided [RCV003778500] Chr14:68883007 [GRCh38]
Chr14:69349724 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1927G>A (p.Gly643Arg) single nucleotide variant ACTN1-related disorder [RCV003399517] Chr14:68882484 [GRCh38]
Chr14:69349201 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2683G>A (p.Val895Met) single nucleotide variant Platelet-type bleeding disorder 15 [RCV003388266] Chr14:68874921 [GRCh38]
Chr14:69341638 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1973T>C (p.Ile658Thr) single nucleotide variant Platelet-type bleeding disorder 15 [RCV003388253] Chr14:68880970 [GRCh38]
Chr14:69347687 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.758A>T (p.Gln253Leu) single nucleotide variant ACTN1-related disorder [RCV003410459] Chr14:68902481 [GRCh38]
Chr14:69369198 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.649G>A (p.Asp217Asn) single nucleotide variant ACTN1-related disorder [RCV003400219] Chr14:68904682 [GRCh38]
Chr14:69371399 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2658G>C (p.Met886Ile) single nucleotide variant ACTN1-related disorder [RCV003393223] Chr14:68874946 [GRCh38]
Chr14:69341663 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2279G>A (p.Arg760Gln) single nucleotide variant not provided [RCV003400603] Chr14:68879963 [GRCh38]
Chr14:69346680 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.340+17G>A single nucleotide variant not provided [RCV003713379] Chr14:68920989 [GRCh38]
Chr14:69387706 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1784T>G (p.Ile595Ser) single nucleotide variant not provided [RCV003715092] Chr14:68882907 [GRCh38]
Chr14:69349624 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.420C>T (p.Ser140=) single nucleotide variant ACTN1-related disorder [RCV003956589]|not provided [RCV003826405] Chr14:68912163 [GRCh38]
Chr14:69378880 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.303C>T (p.Ala101=) single nucleotide variant not provided [RCV003739870] Chr14:68921043 [GRCh38]
Chr14:69387760 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2042A>G (p.Tyr681Cys) single nucleotide variant not provided [RCV003686873] Chr14:68880901 [GRCh38]
Chr14:69347618 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.515+7G>A single nucleotide variant not provided [RCV003826787] Chr14:68909948 [GRCh38]
Chr14:69376665 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2362-20G>T single nucleotide variant not provided [RCV003880285] Chr14:68878543 [GRCh38]
Chr14:69345260 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2141G>C (p.Arg714Pro) single nucleotide variant not provided [RCV003692644] Chr14:68880101 [GRCh38]
Chr14:69346818 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.156C>T (p.Ile52=) single nucleotide variant not provided [RCV003876375] Chr14:68925622 [GRCh38]
Chr14:69392339 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.762+6C>T single nucleotide variant ACTN1-related disorder [RCV003893354]|not provided [RCV003738854] Chr14:68902471 [GRCh38]
Chr14:69369188 [GRCh37]
Chr14:14q24.1		 likely benign|uncertain significance
NM_001130004.2(ACTN1):c.1564AAC[1] (p.Asn523del) microsatellite not provided [RCV003545117] Chr14:68884234..68884236 [GRCh38]
Chr14:69350951..69350953 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1048C>T (p.Arg350Trp) single nucleotide variant not provided [RCV003573274] Chr14:68892091 [GRCh38]
Chr14:69358808 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2659G>A (p.Ala887Thr) single nucleotide variant not provided [RCV003739112] Chr14:68874945 [GRCh38]
Chr14:69341662 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1378G>A (p.Glu460Lys) single nucleotide variant not provided [RCV003578651] Chr14:68885432 [GRCh38]
Chr14:69352149 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.324G>A (p.Val108=) single nucleotide variant not provided [RCV003690988] Chr14:68921022 [GRCh38]
Chr14:69387739 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1527G>A (p.Gln509=) single nucleotide variant not provided [RCV003878834] Chr14:68884276 [GRCh38]
Chr14:69350993 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.958C>T (p.Arg320Trp) single nucleotide variant not provided [RCV003572868] Chr14:68892181 [GRCh38]
Chr14:69358898 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.417C>A (p.Ile139=) single nucleotide variant not provided [RCV003877767] Chr14:68912166 [GRCh38]
Chr14:69378883 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1211C>G (p.Ser404Cys) single nucleotide variant Inborn genetic diseases [RCV004614541]|not provided [RCV003830445] Chr14:68890162 [GRCh38]
Chr14:69356879 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1625A>G (p.Glu542Gly) single nucleotide variant not provided [RCV003547296] Chr14:68884178 [GRCh38]
Chr14:69350895 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.336C>T (p.Ala112=) single nucleotide variant not provided [RCV003826067] Chr14:68921010 [GRCh38]
Chr14:69387727 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2626C>T (p.Pro876Ser) single nucleotide variant not provided [RCV003659801] Chr14:68874978 [GRCh38]
Chr14:69341695 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1760C>T (p.Ala587Val) single nucleotide variant ACTN1-related disorder [RCV004723350]|not provided [RCV003547069] Chr14:68882931 [GRCh38]
Chr14:69349648 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2225G>T (p.Gly742Val) single nucleotide variant not provided [RCV003494133] Chr14:68880017 [GRCh38]
Chr14:69346734 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_001130004.2(ACTN1):c.1635+8C>T single nucleotide variant not provided [RCV003548885] Chr14:68884160 [GRCh38]
Chr14:69350877 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2211C>T (p.Thr737=) single nucleotide variant not provided [RCV003580665] Chr14:68880031 [GRCh38]
Chr14:69346748 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1556C>T (p.Ala519Val) single nucleotide variant not provided [RCV003717044] Chr14:68884247 [GRCh38]
Chr14:69350964 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2503A>G (p.Ile835Val) single nucleotide variant not provided [RCV003832939] Chr14:68877165 [GRCh38]
Chr14:69343882 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1983T>C (p.His661=) single nucleotide variant not provided [RCV003548353] Chr14:68880960 [GRCh38]
Chr14:69347677 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2427+6G>A single nucleotide variant not provided [RCV003813928] Chr14:68878452 [GRCh38]
Chr14:69345169 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.770C>T (p.Thr257Ile) single nucleotide variant not provided [RCV003667752] Chr14:68893740 [GRCh38]
Chr14:69360457 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1252C>T (p.Arg418Ter) single nucleotide variant not provided [RCV003699300] Chr14:68885558 [GRCh38]
Chr14:69352275 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1495-20A>G single nucleotide variant not provided [RCV003850330] Chr14:68884328 [GRCh38]
Chr14:69351045 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1819-13_1819-11del microsatellite not provided [RCV003817234] Chr14:68882603..68882605 [GRCh38]
Chr14:69349320..69349322 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1496G>A (p.Arg499Gln) single nucleotide variant not provided [RCV003817310] Chr14:68884307 [GRCh38]
Chr14:69351024 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.762+14C>A single nucleotide variant not provided [RCV003812056] Chr14:68902463 [GRCh38]
Chr14:69369180 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.381C>A (p.Ile127=) single nucleotide variant not provided [RCV003817333] Chr14:68912202 [GRCh38]
Chr14:69378919 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2368A>G (p.Thr790Ala) single nucleotide variant not provided [RCV003833577] Chr14:68878517 [GRCh38]
Chr14:69345234 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.515+20G>A single nucleotide variant not provided [RCV003850676] Chr14:68909935 [GRCh38]
Chr14:69376652 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1629G>C (p.Glu543Asp) single nucleotide variant not provided [RCV003699133] Chr14:68884174 [GRCh38]
Chr14:69350891 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1371C>T (p.Ile457=) single nucleotide variant not provided [RCV003699645] Chr14:68885439 [GRCh38]
Chr14:69352156 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2281-11C>T single nucleotide variant not provided [RCV003817032] Chr14:68879080 [GRCh38]
Chr14:69345797 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.95A>G (p.Gln32Arg) single nucleotide variant not provided [RCV003560669] Chr14:68978962 [GRCh38]
Chr14:69445679 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.220+3del deletion not provided [RCV003698532] Chr14:68925555 [GRCh38]
Chr14:69392272 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1983T>G (p.His661Gln) single nucleotide variant not provided [RCV003673835] Chr14:68880960 [GRCh38]
Chr14:69347677 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.918G>T (p.Met306Ile) single nucleotide variant not provided [RCV003836617] Chr14:68892221 [GRCh38]
Chr14:69358938 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.851G>A (p.Ser284Asn) single nucleotide variant not provided [RCV003664749] Chr14:68893659 [GRCh38]
Chr14:69360376 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2305G>A (p.Glu769Lys) single nucleotide variant not provided [RCV003557824] Chr14:68879045 [GRCh38]
Chr14:69345762 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.902T>G (p.Val301Gly) single nucleotide variant not provided [RCV003559057] Chr14:68892237 [GRCh38]
Chr14:69358954 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.117A>G (p.Ala39=) single nucleotide variant not provided [RCV003700870] Chr14:68925661 [GRCh38]
Chr14:69392378 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.846G>C (p.Leu282=) single nucleotide variant not provided [RCV003560641] Chr14:68893664 [GRCh38]
Chr14:69360381 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.147G>A (p.Gly49=) single nucleotide variant not provided [RCV003672249] Chr14:68925631 [GRCh38]
Chr14:69392348 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2529C>T (p.Ala843=) single nucleotide variant not provided [RCV003558871] Chr14:68877139 [GRCh38]
Chr14:69343856 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.106-18C>G single nucleotide variant not provided [RCV003702944] Chr14:68925690 [GRCh38]
Chr14:69392407 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2142T>C (p.Arg714=) single nucleotide variant not provided [RCV003855028] Chr14:68880100 [GRCh38]
Chr14:69346817 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1569C>T (p.Asn523=) single nucleotide variant not provided [RCV003667426] Chr14:68884234 [GRCh38]
Chr14:69350951 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.2336G>A (p.Gly779Asp) single nucleotide variant not provided [RCV003663895] Chr14:68879014 [GRCh38]
Chr14:69345731 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.186C>T (p.Gly62=) single nucleotide variant not provided [RCV003718052] Chr14:68925592 [GRCh38]
Chr14:69392309 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2030G>A (p.Ser677Asn) single nucleotide variant not provided [RCV003838403] Chr14:68880913 [GRCh38]
Chr14:69347630 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.967C>T (p.His323Tyr) single nucleotide variant not provided [RCV003847550] Chr14:68892172 [GRCh38]
Chr14:69358889 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.105+16dup duplication not provided [RCV003551886] Chr14:68978935..68978936 [GRCh38]
Chr14:69445652..69445653 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1091T>C (p.Ile364Thr) single nucleotide variant not provided [RCV003822031] Chr14:68890282 [GRCh38]
Chr14:69356999 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1116G>A (p.Glu372=) single nucleotide variant not provided [RCV003843508] Chr14:68890257 [GRCh38]
Chr14:69356974 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.31G>A (p.Asp11Asn) single nucleotide variant not provided [RCV003864059] Chr14:68979026 [GRCh38]
Chr14:69445743 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2223G>A (p.Lys741=) single nucleotide variant not provided [RCV003675043] Chr14:68880019 [GRCh38]
Chr14:69346736 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1054G>T (p.Ala352Ser) single nucleotide variant not provided [RCV003679948] Chr14:68892085 [GRCh38]
Chr14:69358802 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.312C>T (p.Gly104=) single nucleotide variant not provided [RCV003865422] Chr14:68921034 [GRCh38]
Chr14:69387751 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2602G>A (p.Asp868Asn) single nucleotide variant not provided [RCV003551401] Chr14:68875002 [GRCh38]
Chr14:69341719 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1827G>T (p.Gln609His) single nucleotide variant not provided [RCV003551446] Chr14:68882584 [GRCh38]
Chr14:69349301 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.531C>T (p.Leu177=) single nucleotide variant not provided [RCV003729753] Chr14:68909381 [GRCh38]
Chr14:69376098 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.75G>A (p.Leu25=) single nucleotide variant not provided [RCV003731198] Chr14:68978982 [GRCh38]
Chr14:69445699 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2076C>T (p.His692=) single nucleotide variant not provided [RCV003732755] Chr14:68880867 [GRCh38]
Chr14:69347584 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2613C>T (p.Arg871=) single nucleotide variant not provided [RCV003720522] Chr14:68874991 [GRCh38]
Chr14:69341708 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1219G>A (p.Glu407Lys) single nucleotide variant not provided [RCV003722500] Chr14:68890154 [GRCh38]
Chr14:69356871 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2589C>A (p.Asn863Lys) single nucleotide variant not provided [RCV003869227] Chr14:68875015 [GRCh38]
Chr14:69341732 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2094G>A (p.Ala698=) single nucleotide variant not provided [RCV003866038] Chr14:68880849 [GRCh38]
Chr14:69347566 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2070C>T (p.Gly690=) single nucleotide variant ACTN1-related disorder [RCV003981015]|not provided [RCV003565187] Chr14:68880873 [GRCh38]
Chr14:69347590 [GRCh37]
Chr14:14q24.1		 benign|likely benign
NM_001130004.2(ACTN1):c.816C>T (p.Asn272=) single nucleotide variant not provided [RCV003722963] Chr14:68893694 [GRCh38]
Chr14:69360411 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.930A>G (p.Gln310=) single nucleotide variant ACTN1-related disorder [RCV003981180]|not provided [RCV003871732] Chr14:68892209 [GRCh38]
Chr14:69358926 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.659A>C (p.Lys220Thr) single nucleotide variant not provided [RCV003865316] Chr14:68904672 [GRCh38]
Chr14:69371389 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.427+10_427+11inv inversion not provided [RCV003737265] Chr14:68912145..68912146 [GRCh38]
Chr14:69378862..69378863 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.906C>T (p.Pro302=) single nucleotide variant not provided [RCV003719904] Chr14:68892233 [GRCh38]
Chr14:69358950 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.559C>T (p.Arg187Trp) single nucleotide variant not provided [RCV003719925] Chr14:68909353 [GRCh38]
Chr14:69376070 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.821A>G (p.Gln274Arg) single nucleotide variant not provided [RCV003728207] Chr14:68893689 [GRCh38]
Chr14:69360406 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2586+18G>T single nucleotide variant not provided [RCV003723130] Chr14:68877064 [GRCh38]
Chr14:69343781 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.221-11G>T single nucleotide variant not provided [RCV003846249] Chr14:68921136 [GRCh38]
Chr14:69387853 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.516-14C>T single nucleotide variant not provided [RCV003844125] Chr14:68909410 [GRCh38]
Chr14:69376127 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1086+18G>A single nucleotide variant not provided [RCV003682212] Chr14:68892035 [GRCh38]
Chr14:69358752 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1694G>A (p.Arg565His) single nucleotide variant not provided [RCV003734981] Chr14:68882997 [GRCh38]
Chr14:69349714 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.856-15G>A single nucleotide variant not provided [RCV003824049] Chr14:68892298 [GRCh38]
Chr14:69359015 [GRCh37]
Chr14:14q24.1		 benign
NM_001130004.2(ACTN1):c.1635+7C>A single nucleotide variant not provided [RCV003862489] Chr14:68884161 [GRCh38]
Chr14:69350878 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2431G>A (p.Glu811Lys) single nucleotide variant not provided [RCV003682828] Chr14:68877237 [GRCh38]
Chr14:69343954 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1122G>A (p.Val374=) single nucleotide variant not provided [RCV003847846] Chr14:68890251 [GRCh38]
Chr14:69356968 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1891C>T (p.Leu631=) single nucleotide variant not provided [RCV003565929] Chr14:68882520 [GRCh38]
Chr14:69349237 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1284G>A (p.Ser428=) single nucleotide variant not provided [RCV003562409] Chr14:68885526 [GRCh38]
Chr14:69352243 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.762+13C>T single nucleotide variant not provided [RCV003864401] Chr14:68902464 [GRCh38]
Chr14:69369181 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1788G>A (p.Thr596=) single nucleotide variant not provided [RCV003550427] Chr14:68882903 [GRCh38]
Chr14:69349620 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1916C>G (p.Ala639Gly) single nucleotide variant not provided [RCV003734243] Chr14:68882495 [GRCh38]
Chr14:69349212 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.922G>A (p.Ala308Thr) single nucleotide variant not provided [RCV003706788] Chr14:68892217 [GRCh38]
Chr14:69358934 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2587-4G>A single nucleotide variant ACTN1-related disorder [RCV003897143] Chr14:68875021 [GRCh38]
Chr14:69341738 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.744C>T (p.Ala248=) single nucleotide variant ACTN1-related disorder [RCV003981815] Chr14:68902495 [GRCh38]
Chr14:69369212 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1206G>A (p.Lys402=) single nucleotide variant ACTN1-related disorder [RCV003982535] Chr14:68890167 [GRCh38]
Chr14:69356884 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2504T>A (p.Ile835Asn) single nucleotide variant Platelet-type bleeding disorder 15 [RCV003990376] Chr14:68877164 [GRCh38]
Chr14:69343881 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.221-4del deletion ACTN1-related disorder [RCV003949325] Chr14:68921129 [GRCh38]
Chr14:69387846 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2670C>T (p.Thr890=) single nucleotide variant ACTN1-related disorder [RCV003927053] Chr14:68874934 [GRCh38]
Chr14:69341651 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.2362-5C>T single nucleotide variant ACTN1-related disorder [RCV003917257] Chr14:68878528 [GRCh38]
Chr14:69345245 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1802A>G (p.Asn601Ser) single nucleotide variant Inborn genetic diseases [RCV004431077] Chr14:68882889 [GRCh38]
Chr14:69349606 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2471A>G (p.Asn824Ser) single nucleotide variant Inborn genetic diseases [RCV004431094] Chr14:68877197 [GRCh38]
Chr14:69343914 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1160G>A (p.Arg387Gln) single nucleotide variant Inborn genetic diseases [RCV004431064] Chr14:68890213 [GRCh38]
Chr14:69356930 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.871C>T (p.Arg291Cys) single nucleotide variant Inborn genetic diseases [RCV004431125] Chr14:68892268 [GRCh38]
Chr14:69358985 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2603A>G (p.Asp868Gly) single nucleotide variant Inborn genetic diseases [RCV004431098] Chr14:68875001 [GRCh38]
Chr14:69341718 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.165C>G (p.Ile55Met) single nucleotide variant Inborn genetic diseases [RCV004609849] Chr14:68925613 [GRCh38]
Chr14:69392330 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.838G>A (p.Glu280Lys) single nucleotide variant Inborn genetic diseases [RCV004603048] Chr14:68893672 [GRCh38]
Chr14:69360389 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.792G>A (p.Lys264=) single nucleotide variant not specified [RCV004699699] Chr14:68893718 [GRCh38]
Chr14:69360435 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1968C>G (p.Ile656Met) single nucleotide variant not provided [RCV004762997]   uncertain significance
NM_001130004.2(ACTN1):c.947_955del (p.Phe316_Asp318del) deletion not provided [RCV004770918] Chr14:68892184..68892192 [GRCh38]
Chr14:69358901..69358909 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.790A>T (p.Lys264Ter) single nucleotide variant not provided [RCV004764042]   uncertain significance
NM_001130004.2(ACTN1):c.2730C>T (p.Gly910=) single nucleotide variant ACTN1-related disorder [RCV004745748] Chr14:68874874 [GRCh38]
Chr14:69341591 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.1621A>G (p.Ile541Val) single nucleotide variant ACTN1-related disorder [RCV004745932] Chr14:68884182 [GRCh38]
Chr14:69350899 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1184T>A (p.Leu395Gln) single nucleotide variant ACTN1-related disorder [RCV004747004] Chr14:68890189 [GRCh38]
Chr14:69356906 [GRCh37]
Chr14:14q24.1		 likely pathogenic
NM_001130004.2(ACTN1):c.2220C>T (p.Ala740=) single nucleotide variant not specified [RCV004700050] Chr14:68880022 [GRCh38]
Chr14:69346739 [GRCh37]
Chr14:14q24.1		 likely benign
NM_001130004.2(ACTN1):c.202_204delinsTTT (p.Leu68Phe) indel ACTN1-related disorder [RCV004727893] Chr14:68925574..68925576 [GRCh38]
Chr14:69392291..69392293 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.2291G>A (p.Gly764Asp) single nucleotide variant ACTN1-related disorder [RCV004724639] Chr14:68879059 [GRCh38]
Chr14:69345776 [GRCh37]
Chr14:14q24.1		 uncertain significance
NM_001130004.2(ACTN1):c.1145T>G (p.Leu382Trp) single nucleotide variant ACTN1-related disorder [RCV004746018] Chr14:68890228 [GRCh38]
Chr14:69356945 [GRCh37]
Chr14:14q24.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5936
Count of miRNA genes:1103
Interacting mature miRNAs:1370
Transcripts:ENST00000193403, ENST00000376839, ENST00000394419, ENST00000438964, ENST00000538545, ENST00000544964, ENST00000553290, ENST00000553370, ENST00000553659, ENST00000553779, ENST00000553882, ENST00000554158, ENST00000554508, ENST00000555075, ENST00000555616, ENST00000556083, ENST00000556203, ENST00000556343, ENST00000556432, ENST00000556433, ENST00000556571
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407024258GWAS673234_Hsmoking behavior QTL GWAS673234 (human)0.000007smoking behavior146894198068941981Human
407011522GWAS660498_HDrugs used in diabetes use measurement QTL GWAS660498 (human)1e-08Drugs used in diabetes use measurement146896365368963654Human
407139270GWAS788246_Hcognitive decline measurement QTL GWAS788246 (human)0.0000009cognitive behavior trait (VT:0010450)146895967268959673Human
406982016GWAS630992_Hreticulocyte count QTL GWAS630992 (human)4e-09reticulocyte counttotal reticulocyte count (CMO:0003020)146897928768979288Human
407042753GWAS691729_Hperiodontitis QTL GWAS691729 (human)0.000004periodontitis146889391468893915Human
407151363GWAS800339_Hmean platelet volume QTL GWAS800339 (human)3e-08mean platelet volumemean platelet volume (CMO:0001348)146894010868940109Human
407009354GWAS658330_Hprotein measurement QTL GWAS658330 (human)1e-08protein measurement146889823668898237Human
406939977GWAS588953_Hrestless legs syndrome QTL GWAS588953 (human)3e-24restless legs syndrome146897464368974644Human
407178446GWAS827422_Himmature platelet fraction QTL GWAS827422 (human)4e-09immature platelet fraction146895875068958751Human
406906764GWAS555740_Hmigraine disorder, type 2 diabetes mellitus QTL GWAS555740 (human)2e-10migraine disorder, type 2 diabetes mellitus146897866868978669Human
406985932GWAS634908_Hbehavioural disinhibition measurement QTL GWAS634908 (human)0.0000007behavioural disinhibition measurement146887668968876690Human
407085453GWAS734429_Hplatelet count QTL GWAS734429 (human)2e-11platelet quantity (VT:0003179)platelet count (CMO:0000029)146892967268929673Human
407257684GWAS906660_Hpost-traumatic stress disorder QTL GWAS906660 (human)4e-08post-traumatic stress disorder146897428968974290Human
406951890GWAS600866_Hplatelet count QTL GWAS600866 (human)1e-28platelet quantity (VT:0003179)platelet count (CMO:0000029)146895875068958751Human
407199760GWAS848736_Hmean platelet volume QTL GWAS848736 (human)5e-23mean platelet volumemean platelet volume (CMO:0001348)146895875068958751Human
407360594GWAS1009570_HDrugs used in diabetes use measurement QTL GWAS1009570 (human)3e-09Drugs used in diabetes use measurement146897042468970425Human
406888470GWAS537446_Hmosquito bite reaction size measurement QTL GWAS537446 (human)0.000004mosquito bite reaction size measurement146888604768886048Human
406992728GWAS641704_Hplatelet count QTL GWAS641704 (human)4e-42platelet quantity (VT:0003179)platelet count (CMO:0000029)146895875068958751Human
407036514GWAS685490_Hmean platelet volume QTL GWAS685490 (human)7e-11mean platelet volumemean platelet volume (CMO:0001348)146894860668948607Human
407003170GWAS652146_Hmean platelet volume QTL GWAS652146 (human)3e-10mean platelet volumemean platelet volume (CMO:0001348)146895875068958751Human
407236261GWAS885237_Hplatelet count QTL GWAS885237 (human)2e-30platelet quantity (VT:0003179)platelet count (CMO:0000029)146895875068958751Human
407036515GWAS685491_Hmean platelet volume QTL GWAS685491 (human)3e-51mean platelet volumemean platelet volume (CMO:0001348)146895875068958751Human
407191334GWAS840310_Hcolor vision disorder QTL GWAS840310 (human)0.000007color vision disorder146896053568960536Human
407245219GWAS894195_Hplatelet count QTL GWAS894195 (human)7e-17platelet quantity (VT:0003179)platelet count (CMO:0000029)146887553368875534Human
406919972GWAS568948_Hplatelet count QTL GWAS568948 (human)2e-08platelet quantity (VT:0003179)platelet count (CMO:0000029)146888719268887193Human
407105445GWAS754421_Hplatelet crit QTL GWAS754421 (human)5e-11platelet critplateletcrit (CMO:0001349)146895875068958751Human
407137507GWAS786483_Hcognitive decline measurement QTL GWAS786483 (human)0.000002cognitive behavior trait (VT:0010450)146895967268959673Human
407105003GWAS753979_Hplatelet count QTL GWAS753979 (human)3e-36platelet quantity (VT:0003179)platelet count (CMO:0000029)146895875068958751Human
407152238GWAS801214_Hresponse to selective serotonin reuptake inhibitor QTL GWAS801214 (human)0.000009response to selective serotonin reuptake inhibitor146895783768957838Human
407105705GWAS754681_Hself reported educational attainment QTL GWAS754681 (human)1e-08self reported educational attainment146895990068959901Human
406895339GWAS544315_Hmean platelet volume QTL GWAS544315 (human)1e-28mean platelet volumemean platelet volume (CMO:0001348)146887553368875534Human
407037865GWAS686841_Halcohol consumption measurement QTL GWAS686841 (human)5e-11alcohol consumption measurementethanol drink intake rate (CMO:0001407)146888794368887944Human
407044207GWAS693183_Heducational attainment QTL GWAS693183 (human)1e-11educational attainment146888815468888155Human
406895340GWAS544316_Hmean platelet volume QTL GWAS544316 (human)2e-27mean platelet volumemean platelet volume (CMO:0001348)146895875068958751Human
407109107GWAS758083_Hplatelet component distribution width QTL GWAS758083 (human)6e-25platelet component distribution widthplatelet distribution width (CMO:0001350)146895875068958751Human
407194999GWAS843975_Hplatelet count QTL GWAS843975 (human)7e-15platelet quantity (VT:0003179)platelet count (CMO:0000029)146890324668903247Human
407044215GWAS693191_Heducational attainment QTL GWAS693191 (human)1e-08educational attainment146894198068941981Human
406966389GWAS615365_Hplatelet component distribution width QTL GWAS615365 (human)1e-16platelet component distribution widthplatelet distribution width (CMO:0001350)146895875068958751Human
407044214GWAS693190_Heducational attainment QTL GWAS693190 (human)1e-10educational attainment146889137768891378Human
407047156GWAS696132_Hplatelet count QTL GWAS696132 (human)1e-18platelet quantity (VT:0003179)platelet count (CMO:0000029)146895875068958751Human
407206847GWAS855823_Hplatelet count QTL GWAS855823 (human)8e-45platelet quantity (VT:0003179)platelet count (CMO:0000029)146895875068958751Human
407155641GWAS804617_Hmean platelet volume QTL GWAS804617 (human)9e-09mean platelet volumemean platelet volume (CMO:0001348)146893566568935666Human
407161786GWAS810762_Himmature platelet measurement QTL GWAS810762 (human)3e-09immature platelet measurement146895875068958751Human
407341944GWAS990920_Hplatelet count QTL GWAS990920 (human)2e-46platelet quantity (VT:0003179)platelet count (CMO:0000029)146895875068958751Human

Markers in Region
D14S931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371469,342,339 - 69,342,539UniSTSGRCh37
Build 361468,412,092 - 68,412,292RGDNCBI36
Celera1449,403,215 - 49,403,415RGD
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map14q24UniSTS
HuRef1449,512,416 - 49,512,616UniSTS
Stanford-G3 RH Map142446.0UniSTS
NCBI RH Map14661.9UniSTS
RH93083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371469,374,816 - 69,374,972UniSTSGRCh37
Build 361468,444,569 - 68,444,725RGDNCBI36
Celera1449,435,694 - 49,435,850RGD
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map14q24UniSTS
HuRef1449,544,896 - 49,545,052UniSTS
GeneMap99-GB4 RH Map14178.8UniSTS
D14S1312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371469,341,139 - 69,341,276UniSTSGRCh37
Build 361468,410,892 - 68,411,029RGDNCBI36
Celera1449,402,015 - 49,402,152RGD
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map14q24UniSTS
HuRef1449,511,216 - 49,511,353UniSTS
GeneMap99-G3 RH Map142549.0UniSTS
STS-D29544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377100,782,307 - 100,782,438UniSTSGRCh37
Build 367100,569,027 - 100,569,158RGDNCBI36
Celera795,790,686 - 95,790,817RGD
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
HuRef795,375,505 - 95,375,636UniSTS
CRA_TCAGchr7v27100,140,694 - 100,140,825UniSTS
GeneMap99-GB4 RH Map7517.07UniSTS
NCBI RH Map71062.2UniSTS
RH48588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371469,380,473 - 69,380,594UniSTSGRCh37
Build 361468,450,226 - 68,450,347RGDNCBI36
Celera1449,441,350 - 49,441,471RGD
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map14q24UniSTS
HuRef1449,550,553 - 49,550,674UniSTS
GeneMap99-GB4 RH Map14178.49UniSTS
D14S939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371469,342,531 - 69,342,652UniSTSGRCh37
Build 361468,412,284 - 68,412,405RGDNCBI36
Celera1449,403,407 - 49,403,528RGD
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map14q24UniSTS
HuRef1449,512,608 - 49,512,729UniSTS
TNG Radiation Hybrid Map1424042.0UniSTS
Stanford-G3 RH Map142451.0UniSTS
SHGC-58252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371469,421,625 - 69,421,937UniSTSGRCh37
Build 361468,491,378 - 68,491,690RGDNCBI36
Celera1449,482,535 - 49,482,847RGD
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map14q24UniSTS
HuRef1449,591,663 - 49,591,975UniSTS
TNG Radiation Hybrid Map1424076.0UniSTS
D14S1222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371469,341,083 - 69,341,191UniSTSGRCh37
Build 361468,410,836 - 68,410,944RGDNCBI36
Celera1449,401,959 - 49,402,067RGD
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map14q24UniSTS
HuRef1449,511,160 - 49,511,268UniSTS
Whitehead-YAC Contig Map14 UniSTS
MARC_17931-17932:1024341335:5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371469,346,753 - 69,347,646UniSTSGRCh37
Build 361468,416,506 - 68,417,399RGDNCBI36
Celera1449,407,629 - 49,408,522RGD
HuRef1449,516,830 - 49,517,723UniSTS
ECD17402  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q24UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map14q22-q24UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
RH67009  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q24UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map14q22-q24UniSTS
Actn1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371469,345,728 - 69,346,720UniSTSGRCh37
Celera1449,406,604 - 49,407,596UniSTS
HuRef1449,515,805 - 49,516,797UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2252 4969 1725 2351 6 623 1942 465 2269 7295 6461 53 3730 1 852 1743 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_190048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ844628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI494856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX248020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC321454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC372566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ496098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU716325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ410030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M95178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000193403   ⟹   ENSP00000193403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,123 - 68,979,440 (-)Ensembl
Ensembl Acc Id: ENST00000376839   ⟹   ENSP00000366035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,783 - 68,977,566 (-)Ensembl
Ensembl Acc Id: ENST00000394419   ⟹   ENSP00000377941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,128 - 68,979,302 (-)Ensembl
Ensembl Acc Id: ENST00000438964   ⟹   ENSP00000414272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,686 - 68,979,262 (-)Ensembl
Ensembl Acc Id: ENST00000538545   ⟹   ENSP00000439828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,859 - 68,979,076 (-)Ensembl
Ensembl Acc Id: ENST00000544964   ⟹   ENSP00000444422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,879,046 - 68,890,142 (-)Ensembl
Ensembl Acc Id: ENST00000553290   ⟹   ENSP00000450625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,879,049 - 68,884,303 (-)Ensembl
Ensembl Acc Id: ENST00000553370   ⟹   ENSP00000450925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,904,702 - 68,977,654 (-)Ensembl
Ensembl Acc Id: ENST00000553659   ⟹   ENSP00000451086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,925,559 - 68,978,269 (-)Ensembl
Ensembl Acc Id: ENST00000553779   ⟹   ENSP00000450618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,910,020 - 68,947,548 (-)Ensembl
Ensembl Acc Id: ENST00000553882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,133 - 68,879,099 (-)Ensembl
Ensembl Acc Id: ENST00000554158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,902,543 - 68,921,359 (-)Ensembl
Ensembl Acc Id: ENST00000554508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,893,683 - 68,962,342 (-)Ensembl
Ensembl Acc Id: ENST00000555075   ⟹   ENSP00000452254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,786 - 68,882,567 (-)Ensembl
Ensembl Acc Id: ENST00000555616   ⟹   ENSP00000450903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,892,228 - 68,978,289 (-)Ensembl
Ensembl Acc Id: ENST00000556083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,318 - 68,888,263 (-)Ensembl
Ensembl Acc Id: ENST00000556203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,973,781 - 68,979,031 (-)Ensembl
Ensembl Acc Id: ENST00000556343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,883,265 - 68,884,295 (-)Ensembl
Ensembl Acc Id: ENST00000556432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,879,864 - 68,881,122 (-)Ensembl
Ensembl Acc Id: ENST00000556433   ⟹   ENSP00000450764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,893,665 - 68,978,735 (-)Ensembl
Ensembl Acc Id: ENST00000556571   ⟹   ENSP00000452423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,910,022 - 68,978,240 (-)Ensembl
Ensembl Acc Id: ENST00000679147   ⟹   ENSP00000504355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,686 - 68,979,262 (-)Ensembl
Ensembl Acc Id: ENST00000682130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,133 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000682291   ⟹   ENSP00000507093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,133 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000682298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,133 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000682331   ⟹   ENSP00000508329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,133 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000682378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,133 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000682381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,133 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000682522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,132 - 68,912,471 (-)Ensembl
Ensembl Acc Id: ENST00000682559   ⟹   ENSP00000507271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,819 - 68,979,267 (-)Ensembl
Ensembl Acc Id: ENST00000682602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,909,997 - 68,979,150 (-)Ensembl
Ensembl Acc Id: ENST00000683069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,133 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000683198   ⟹   ENSP00000507889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,132 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000683225   ⟹   ENSP00000506977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,133 - 68,971,794 (-)Ensembl
Ensembl Acc Id: ENST00000683261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,901,282 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000683267   ⟹   ENSP00000508356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,133 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000683342   ⟹   ENSP00000508301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,875,022 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000683780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,132 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000684096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,901,309 - 68,905,789 (-)Ensembl
Ensembl Acc Id: ENST00000684146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,133 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000684182   ⟹   ENSP00000508177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,133 - 68,938,002 (-)Ensembl
Ensembl Acc Id: ENST00000684287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,132 - 68,893,775 (-)Ensembl
Ensembl Acc Id: ENST00000684340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,133 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000684598   ⟹   ENSP00000507785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,133 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000684638   ⟹   ENSP00000507609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,132 - 68,979,344 (-)Ensembl
Ensembl Acc Id: ENST00000684639   ⟹   ENSP00000507653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,132 - 68,979,145 (-)Ensembl
Ensembl Acc Id: ENST00000684713   ⟹   ENSP00000507155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1468,874,353 - 68,979,319 (-)Ensembl
RefSeq Acc Id: NM_001102   ⟹   NP_001093
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
GRCh371469,340,840 - 69,446,083 (-)ENTREZGENE
Build 361468,410,793 - 68,515,709 (-)NCBI Archive
HuRef1449,510,917 - 49,616,121 (-)ENTREZGENE
CHM1_11469,279,215 - 69,384,488 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001130004   ⟹   NP_001123476
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
GRCh371469,340,840 - 69,446,083 (-)ENTREZGENE
HuRef1449,510,917 - 49,616,121 (-)ENTREZGENE
CHM1_11469,279,215 - 69,384,488 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001130005   ⟹   NP_001123477
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
GRCh371469,340,840 - 69,446,083 (-)ENTREZGENE
HuRef1449,510,917 - 49,616,121 (-)ENTREZGENE
CHM1_11469,279,215 - 69,384,488 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001411035   ⟹   NP_001397964
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
RefSeq Acc Id: NM_001411036   ⟹   NP_001397965
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,937,951 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,147,015 (-)NCBI
RefSeq Acc Id: NM_001424012   ⟹   NP_001410941
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
RefSeq Acc Id: NM_001424013   ⟹   NP_001410942
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
RefSeq Acc Id: NM_001424014   ⟹   NP_001410943
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
RefSeq Acc Id: NM_001424015   ⟹   NP_001410944
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,937,951 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,147,015 (-)NCBI
RefSeq Acc Id: NM_001424016   ⟹   NP_001410945
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
RefSeq Acc Id: NM_001424017   ⟹   NP_001410946
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,978,269 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,187,322 (-)NCBI
RefSeq Acc Id: NM_001424018   ⟹   NP_001410947
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,978,269 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,187,322 (-)NCBI
RefSeq Acc Id: NM_001424019   ⟹   NP_001410948
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
RefSeq Acc Id: NM_001424020   ⟹   NP_001410949
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,978,269 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,187,322 (-)NCBI
RefSeq Acc Id: NM_001424021   ⟹   NP_001410950
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,978,269 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,187,322 (-)NCBI
RefSeq Acc Id: NM_001424022   ⟹   NP_001410951
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,978,269 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,187,322 (-)NCBI
RefSeq Acc Id: NM_001424023   ⟹   NP_001410952
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
RefSeq Acc Id: NM_001424024   ⟹   NP_001410953
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
RefSeq Acc Id: NM_001424025   ⟹   NP_001410954
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
RefSeq Acc Id: NM_001424026   ⟹   NP_001410955
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,978,269 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,187,322 (-)NCBI
RefSeq Acc Id: NM_001424027   ⟹   NP_001410956
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
RefSeq Acc Id: NM_001424028   ⟹   NP_001410957
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,977,566 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,186,616 (-)NCBI
RefSeq Acc Id: NM_001424029   ⟹   NP_001410958
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
RefSeq Acc Id: NM_001424030   ⟹   NP_001410959
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,874,128 - 68,979,302 (-)NCBI
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
RefSeq Acc Id: NR_190048
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01463,083,135 - 63,188,360 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001093 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123476 (Get FASTA)   NCBI Sequence Viewer  
  NP_001123477 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397964 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397965 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410941 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410942 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410943 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410944 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410945 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410946 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410947 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410948 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410949 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410950 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410951 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410952 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410953 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410954 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410955 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410956 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410957 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410958 (Get FASTA)   NCBI Sequence Viewer  
  NP_001410959 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51582 (Get FASTA)   NCBI Sequence Viewer  
  AAH03576 (Get FASTA)   NCBI Sequence Viewer  
  AAH15766 (Get FASTA)   NCBI Sequence Viewer  
  AAI27125 (Get FASTA)   NCBI Sequence Viewer  
  AAP35871 (Get FASTA)   NCBI Sequence Viewer  
  ABF50047 (Get FASTA)   NCBI Sequence Viewer  
  ACE62922 (Get FASTA)   NCBI Sequence Viewer  
  ACJ24535 (Get FASTA)   NCBI Sequence Viewer  
  ADO22401 (Get FASTA)   NCBI Sequence Viewer  
  BAG53591 (Get FASTA)   NCBI Sequence Viewer  
  BAG57591 (Get FASTA)   NCBI Sequence Viewer  
  BAG58135 (Get FASTA)   NCBI Sequence Viewer  
  BAG61357 (Get FASTA)   NCBI Sequence Viewer  
  BAH12801 (Get FASTA)   NCBI Sequence Viewer  
  CAA33803 (Get FASTA)   NCBI Sequence Viewer  
  CAA38970 (Get FASTA)   NCBI Sequence Viewer  
  CAD62344 (Get FASTA)   NCBI Sequence Viewer  
  CAH59747 (Get FASTA)   NCBI Sequence Viewer  
  EAW80971 (Get FASTA)   NCBI Sequence Viewer  
  EAW80972 (Get FASTA)   NCBI Sequence Viewer  
  EAW80973 (Get FASTA)   NCBI Sequence Viewer  
  EAW80974 (Get FASTA)   NCBI Sequence Viewer  
  EAW80975 (Get FASTA)   NCBI Sequence Viewer  
  EAW80976 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000193403
  ENSP00000193403.6
  ENSP00000366035
  ENSP00000366035.3
  ENSP00000377941
  ENSP00000377941.4
  ENSP00000414272
  ENSP00000414272.2
  ENSP00000439828
  ENSP00000439828.2
  ENSP00000444422.2
  ENSP00000450618.1
  ENSP00000450625.1
  ENSP00000450764.1
  ENSP00000450903.1
  ENSP00000450925.1
  ENSP00000451086.1
  ENSP00000452254.1
  ENSP00000452423.1
  ENSP00000504355
  ENSP00000504355.1
  ENSP00000506977.1
  ENSP00000507093.1
  ENSP00000507155.1
  ENSP00000507271.1
  ENSP00000507578.1
  ENSP00000507609.1
  ENSP00000507653.1
  ENSP00000507785.1
  ENSP00000507889.1
  ENSP00000508177
  ENSP00000508177.1
  ENSP00000508301
  ENSP00000508301.1
  ENSP00000508329
  ENSP00000508329.1
  ENSP00000508356.1
GenBank Protein P12814 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001123477   ⟸   NM_001130005
- Peptide Label: isoform c
- UniProtKB: A0A804HK61 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001093   ⟸   NM_001102
- Peptide Label: isoform b
- UniProtKB: Q1HE25 (UniProtKB/Swiss-Prot),   B7TY16 (UniProtKB/Swiss-Prot),   B4DHH3 (UniProtKB/Swiss-Prot),   B3V8S3 (UniProtKB/Swiss-Prot),   Q9BTN1 (UniProtKB/Swiss-Prot),   P12814 (UniProtKB/Swiss-Prot),   A0A024R694 (UniProtKB/TrEMBL),   A0A804HK61 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123476   ⟸   NM_001130004
- Peptide Label: isoform a
- UniProtKB: A0A804HII9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000450903   ⟸   ENST00000555616
Ensembl Acc Id: ENSP00000452254   ⟸   ENST00000555075
Ensembl Acc Id: ENSP00000450764   ⟸   ENST00000556433
Ensembl Acc Id: ENSP00000414272   ⟸   ENST00000438964
Ensembl Acc Id: ENSP00000452423   ⟸   ENST00000556571
Ensembl Acc Id: ENSP00000444422   ⟸   ENST00000544964
Ensembl Acc Id: ENSP00000366035   ⟸   ENST00000376839
Ensembl Acc Id: ENSP00000193403   ⟸   ENST00000193403
Ensembl Acc Id: ENSP00000439828   ⟸   ENST00000538545
Ensembl Acc Id: ENSP00000377941   ⟸   ENST00000394419
Ensembl Acc Id: ENSP00000450925   ⟸   ENST00000553370
Ensembl Acc Id: ENSP00000450625   ⟸   ENST00000553290
Ensembl Acc Id: ENSP00000450618   ⟸   ENST00000553779
Ensembl Acc Id: ENSP00000451086   ⟸   ENST00000553659
Ensembl Acc Id: ENSP00000504355   ⟸   ENST00000679147
Ensembl Acc Id: ENSP00000508177   ⟸   ENST00000684182
Ensembl Acc Id: ENSP00000507609   ⟸   ENST00000684638
Ensembl Acc Id: ENSP00000508356   ⟸   ENST00000683267
Ensembl Acc Id: ENSP00000508301   ⟸   ENST00000683342
Ensembl Acc Id: ENSP00000507271   ⟸   ENST00000682559
Ensembl Acc Id: ENSP00000507155   ⟸   ENST00000684713
Ensembl Acc Id: ENSP00000507093   ⟸   ENST00000682291
Ensembl Acc Id: ENSP00000507653   ⟸   ENST00000684639
Ensembl Acc Id: ENSP00000508329   ⟸   ENST00000682331
Ensembl Acc Id: ENSP00000507889   ⟸   ENST00000683198
Ensembl Acc Id: ENSP00000507785   ⟸   ENST00000684598
Ensembl Acc Id: ENSP00000506977   ⟸   ENST00000683225
RefSeq Acc Id: NP_001397964   ⟸   NM_001411035
- Peptide Label: isoform d
- UniProtKB: A0A7I2V4Y4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001397965   ⟸   NM_001411036
- Peptide Label: isoform e
- UniProtKB: A0A804HL31 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001410958   ⟸   NM_001424029
- Peptide Label: isoform v
RefSeq Acc Id: NP_001410956   ⟸   NM_001424027
- Peptide Label: isoform t
- UniProtKB: A0A804HLF4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001410954   ⟸   NM_001424025
- Peptide Label: isoform s
RefSeq Acc Id: NP_001410948   ⟸   NM_001424019
- Peptide Label: isoform m
RefSeq Acc Id: NP_001410953   ⟸   NM_001424024
- Peptide Label: isoform r
RefSeq Acc Id: NP_001410952   ⟸   NM_001424023
- Peptide Label: isoform q
RefSeq Acc Id: NP_001410943   ⟸   NM_001424014
- Peptide Label: isoform h
RefSeq Acc Id: NP_001410941   ⟸   NM_001424012
- Peptide Label: isoform f
RefSeq Acc Id: NP_001410945   ⟸   NM_001424016
- Peptide Label: isoform j
RefSeq Acc Id: NP_001410959   ⟸   NM_001424030
- Peptide Label: isoform w
RefSeq Acc Id: NP_001410942   ⟸   NM_001424013
- Peptide Label: isoform g
RefSeq Acc Id: NP_001410951   ⟸   NM_001424022
- Peptide Label: isoform p
RefSeq Acc Id: NP_001410949   ⟸   NM_001424020
- Peptide Label: isoform n
RefSeq Acc Id: NP_001410947   ⟸   NM_001424018
- Peptide Label: isoform l
RefSeq Acc Id: NP_001410955   ⟸   NM_001424026
- Peptide Label: isoform e
- UniProtKB: A0A804HL31 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001410950   ⟸   NM_001424021
- Peptide Label: isoform o
RefSeq Acc Id: NP_001410946   ⟸   NM_001424017
- Peptide Label: isoform k
RefSeq Acc Id: NP_001410957   ⟸   NM_001424028
- Peptide Label: isoform u
- UniProtKB: H9KV75 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001410944   ⟸   NM_001424015
- Peptide Label: isoform i
Protein Domains
Calponin-homology (CH)   EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P12814-F1-model_v2 AlphaFold P12814 1-892 view protein structure

Promoters
RGD ID:6791232
Promoter ID:HG_KWN:19652
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:UC001XKK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361468,422,096 - 68,422,647 (-)MPROMDB
RGD ID:6791233
Promoter ID:HG_KWN:19653
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001XKO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361468,514,531 - 68,515,167 (-)MPROMDB
RGD ID:6791231
Promoter ID:HG_KWN:19654
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001102,   NM_001130004,   NM_001130005
Position:
Human AssemblyChrPosition (strand)Source
Build 361468,515,601 - 68,516,637 (-)MPROMDB
RGD ID:7227983
Promoter ID:EPDNEW_H19737
Type:initiation region
Name:ACTN1_1
Description:actinin alpha 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381468,979,302 - 68,979,362EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:163 AgrOrtholog
COSMIC ACTN1 COSMIC
Ensembl Genes ENSG00000072110 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000193403 ENTREZGENE
  ENST00000193403.10 UniProtKB/Swiss-Prot
  ENST00000376839 ENTREZGENE
  ENST00000376839.7 UniProtKB/TrEMBL
  ENST00000394419 ENTREZGENE
  ENST00000394419.9 UniProtKB/Swiss-Prot
  ENST00000438964 ENTREZGENE
  ENST00000438964.6 UniProtKB/Swiss-Prot
  ENST00000538545 ENTREZGENE
  ENST00000538545.6 UniProtKB/Swiss-Prot
  ENST00000544964.6 UniProtKB/TrEMBL
  ENST00000553290.1 UniProtKB/TrEMBL
  ENST00000553370.5 UniProtKB/TrEMBL
  ENST00000553659.1 UniProtKB/TrEMBL
  ENST00000553779.5 UniProtKB/TrEMBL
  ENST00000554508.6 UniProtKB/TrEMBL
  ENST00000555075.5 UniProtKB/TrEMBL
  ENST00000555616.5 UniProtKB/TrEMBL
  ENST00000556433.5 UniProtKB/TrEMBL
  ENST00000556571.1 UniProtKB/TrEMBL
  ENST00000679147 ENTREZGENE
  ENST00000679147.1 UniProtKB/TrEMBL
  ENST00000682291.1 UniProtKB/TrEMBL
  ENST00000682331 ENTREZGENE
  ENST00000682331.1 UniProtKB/TrEMBL
  ENST00000682522 ENTREZGENE
  ENST00000682559.1 UniProtKB/TrEMBL
  ENST00000683198.1 UniProtKB/TrEMBL
  ENST00000683225.1 UniProtKB/TrEMBL
  ENST00000683267.1 UniProtKB/TrEMBL
  ENST00000683342 ENTREZGENE
  ENST00000683342.1 UniProtKB/TrEMBL
  ENST00000684182 ENTREZGENE
  ENST00000684182.1 UniProtKB/TrEMBL
  ENST00000684598.1 UniProtKB/TrEMBL
  ENST00000684638.1 UniProtKB/TrEMBL
  ENST00000684639.1 UniProtKB/TrEMBL
  ENST00000684713.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.418.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.58.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000072110 GTEx
HGNC ID HGNC:163 ENTREZGENE
Human Proteome Map ACTN1 Human Proteome Map
InterPro Actinin_actin-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_Ca_insen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin/alpha-actinin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:87 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 87 ENTREZGENE
OMIM 102575 OMIM
PANTHER ALPHA-ACTININ-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPECTRIN/FILAMIN RELATED CYTOSKELETAL PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_7 UniProtKB/TrEMBL
  EF-hand_8 UniProtKB/TrEMBL
  EFhand_Ca_insen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Spectrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24 PharmGKB
PROSITE ACTININ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACTININ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  efhand_Ca_insen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00033 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPEC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Spectrin repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R694 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V4Y4 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HII9 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HIN7_HUMAN UniProtKB/TrEMBL
  A0A804HIY0_HUMAN UniProtKB/TrEMBL
  A0A804HJN7_HUMAN UniProtKB/TrEMBL
  A0A804HJQ9_HUMAN UniProtKB/TrEMBL
  A0A804HJU8_HUMAN UniProtKB/TrEMBL
  A0A804HK61 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKE2_HUMAN UniProtKB/TrEMBL
  A0A804HL31 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HLD0_HUMAN UniProtKB/TrEMBL
  A0A804HLF4 ENTREZGENE, UniProtKB/TrEMBL
  A1L0V1_HUMAN UniProtKB/TrEMBL
  ACTN1_HUMAN UniProtKB/Swiss-Prot
  B3V8S3 ENTREZGENE
  B4DHH3 ENTREZGENE
  B7TY16 ENTREZGENE
  G3V2E8_HUMAN UniProtKB/TrEMBL
  G3V2N5_HUMAN UniProtKB/TrEMBL
  G3V2W4_HUMAN UniProtKB/TrEMBL
  G3V2X9_HUMAN UniProtKB/TrEMBL
  G3V380_HUMAN UniProtKB/TrEMBL
  G3V5M4_HUMAN UniProtKB/TrEMBL
  H0YJ11_HUMAN UniProtKB/TrEMBL
  H0YJW3_HUMAN UniProtKB/TrEMBL
  H7C5W8_HUMAN UniProtKB/TrEMBL
  H9KV75 ENTREZGENE, UniProtKB/TrEMBL
  P12814 ENTREZGENE
  Q1HE25 ENTREZGENE
  Q5ZEZ4_HUMAN UniProtKB/TrEMBL
  Q9BTN1 ENTREZGENE
UniProt Secondary B3V8S3 UniProtKB/Swiss-Prot
  B4DHH3 UniProtKB/Swiss-Prot
  B7TY16 UniProtKB/Swiss-Prot
  Q1HE25 UniProtKB/Swiss-Prot
  Q9BTN1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 ACTN1  actinin alpha 1  ACTN1  actinin, alpha 1  Symbol and/or name change 5135510 APPROVED