EPB41L1 (erythrocyte membrane protein band 4.1 like 1) - Rat Genome Database

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Gene: EPB41L1 (erythrocyte membrane protein band 4.1 like 1) Homo sapiens
Analyze
Symbol: EPB41L1
Name: erythrocyte membrane protein band 4.1 like 1
RGD ID: 733700
HGNC Page HGNC:3378
Description: Predicted to enable actin binding activity and structural molecule activity. Predicted to be involved in actomyosin structure organization. Located in plasma membrane. Implicated in autosomal dominant intellectual developmental disorder 11.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 4.1N; band 4.1-like protein 1; DKFZp686H17242; erythrocyte membrane protein band 4.1-like 1; erythrocyte protein band 4.1-like 1; KIAA0338; MGC11072; MRD11; neuron-type nonerythroid protein 4.1; neuronal protein 4.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382036,091,414 - 36,232,799 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2036,091,504 - 36,232,799 (+)EnsemblGRCh38hg38GRCh38
GRCh372034,679,336 - 34,820,721 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362034,163,762 - 34,284,135 (+)NCBINCBI36Build 36hg18NCBI36
Build 342034,206,075 - 34,284,135NCBI
Celera2031,449,112 - 31,569,493 (+)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2031,457,074 - 31,598,185 (+)NCBIHuRef
CHM1_12034,581,565 - 34,722,846 (+)NCBICHM1_1
T2T-CHM13v2.02037,812,399 - 37,953,498 (+)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
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-[1-hydroxy-2-[4-(phenylmethyl)-1-piperidinyl]propyl]phenol  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
cadmium atom  (EXP)
caffeine  (EXP)
choline  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
Cuprizon  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
dimethylselenide  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
folic acid  (ISO)
fonofos  (EXP)
FR900359  (EXP)
genistein  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
isoflurane  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
methamphetamine  (ISO)
methapyrilene  (EXP)
methylphenidate  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
ozone  (EXP)
p-toluidine  (ISO)
parathion  (EXP)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
quercetin  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sulforaphane  (EXP)
terbufos  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9205841   PMID:9570967   PMID:9828140   PMID:10414974   PMID:10594058   PMID:11050113   PMID:11136977   PMID:11780052   PMID:12181426   PMID:12444087   PMID:12477932   PMID:12574408  
PMID:12676536   PMID:14697242   PMID:14702039   PMID:15345747   PMID:15489334   PMID:15893517   PMID:16368544   PMID:16964243   PMID:17081983   PMID:17219717   PMID:17500595   PMID:18373558  
PMID:19165527   PMID:19272819   PMID:19322201   PMID:19503082   PMID:20468064   PMID:20471030   PMID:21044950   PMID:21376300   PMID:21832049   PMID:21873635   PMID:22863883   PMID:22939629  
PMID:23256752   PMID:23400781   PMID:23563607   PMID:23602568   PMID:23994105   PMID:24366813   PMID:25277244   PMID:25468996   PMID:26186194   PMID:26496610   PMID:26575790   PMID:26638075  
PMID:26648170   PMID:27448302   PMID:27803151   PMID:27880917   PMID:28298427   PMID:28514442   PMID:28611215   PMID:29428502   PMID:29507755   PMID:29568061   PMID:29791485   PMID:30442766  
PMID:30639242   PMID:31527615   PMID:31871319   PMID:32707033   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34591612   PMID:35063084   PMID:35271311   PMID:35337019   PMID:35384245  
PMID:35605301   PMID:35831314   PMID:36215168   PMID:36634849   PMID:36724073   PMID:36931259   PMID:38117590  


Genomics

Comparative Map Data
EPB41L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382036,091,414 - 36,232,799 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2036,091,504 - 36,232,799 (+)EnsemblGRCh38hg38GRCh38
GRCh372034,679,336 - 34,820,721 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362034,163,762 - 34,284,135 (+)NCBINCBI36Build 36hg18NCBI36
Build 342034,206,075 - 34,284,135NCBI
Celera2031,449,112 - 31,569,493 (+)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2031,457,074 - 31,598,185 (+)NCBIHuRef
CHM1_12034,581,565 - 34,722,846 (+)NCBICHM1_1
T2T-CHM13v2.02037,812,399 - 37,953,498 (+)NCBIT2T-CHM13v2.0
Epb41l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392156,255,918 - 156,385,134 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2156,262,829 - 156,385,134 (+)EnsemblGRCm39 Ensembl
GRCm382156,417,595 - 156,543,214 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2156,420,909 - 156,543,214 (+)EnsemblGRCm38mm10GRCm38
MGSCv372156,246,788 - 156,368,950 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362156,112,493 - 156,234,655 (+)NCBIMGSCv36mm8
Celera2162,357,837 - 162,479,758 (+)NCBICelera
Cytogenetic Map2H1NCBI
cM Map277.39NCBI
Epb41l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83165,389,295 - 165,512,821 (+)NCBIGRCr8
mRatBN7.23144,929,195 - 145,052,723 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3144,984,640 - 145,052,721 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3148,850,623 - 148,918,207 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03157,467,747 - 157,535,463 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03155,207,141 - 155,274,268 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03152,492,725 - 152,622,047 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3152,552,822 - 152,619,722 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl3153,843,206 - 153,893,847 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03159,071,718 - 159,177,204 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43146,876,451 - 146,944,603 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13146,782,359 - 146,850,512 (+)NCBI
Celera3143,705,696 - 143,771,313 (+)NCBICelera
Cytogenetic Map3q42NCBI
Epb41l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542225,336,888 - 25,440,893 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542225,338,135 - 25,456,376 (-)NCBIChiLan1.0ChiLan1.0
EPB41L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22141,889,539 - 41,967,290 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12041,820,622 - 41,960,391 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02032,422,455 - 32,562,208 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12033,543,378 - 33,680,496 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2033,575,519 - 33,680,496 (+)Ensemblpanpan1.1panPan2
EPB41L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12424,906,516 - 25,050,109 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2424,925,629 - 25,046,776 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2424,553,009 - 24,696,538 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02425,598,841 - 25,742,660 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2425,618,315 - 25,739,543 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12424,903,260 - 25,027,592 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02424,978,559 - 25,122,084 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02425,468,575 - 25,612,392 (+)NCBIUU_Cfam_GSD_1.0
Epb41l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640173,893,997 - 174,016,632 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365614,735,339 - 4,837,603 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365614,732,915 - 4,855,662 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EPB41L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1739,326,627 - 39,495,061 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11739,360,388 - 39,495,064 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21744,823,051 - 44,900,443 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EPB41L1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1256,947,777 - 57,085,856 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl256,966,950 - 57,086,448 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660873,495,345 - 3,573,019 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Epb41l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248423,265,880 - 3,459,412 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248423,265,880 - 3,443,535 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EPB41L1
111 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012156.2(EPB41L1):c.2560C>T (p.Pro854Ser) single nucleotide variant Intellectual disability, autosomal dominant 11 [RCV000023216] Chr20:36222317 [GRCh38]
Chr20:34810239 [GRCh37]
Chr20:20q11.23		 pathogenic
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|See cases [RCV000052766] Chr20:34541747..39663219 [GRCh38]
Chr20:33129551..38291861 [GRCh37]
Chr20:32593212..37725275 [NCBI36]
Chr20:20q11.22-12		 pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11		 pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
NM_012156.2(EPB41L1):c.319T>G (p.Ser107Ala) single nucleotide variant not specified [RCV000116981] Chr20:36175692 [GRCh38]
Chr20:34763614 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_012156.2(EPB41L1):c.1197C>T (p.Thr399=) single nucleotide variant not provided [RCV000881777]|not specified [RCV000116976] Chr20:36190694 [GRCh38]
Chr20:34778616 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_012156.2(EPB41L1):c.1338T>C (p.His446=) single nucleotide variant EPB41L1-related condition [RCV003975020]|not specified [RCV000116977] Chr20:36194249 [GRCh38]
Chr20:34782171 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_012156.2(EPB41L1):c.1640C>G (p.Pro547Arg) single nucleotide variant not provided [RCV000963029]|not specified [RCV000116978] Chr20:36198013 [GRCh38]
Chr20:34785935 [GRCh37]
Chr20:20q11.23		 benign|uncertain significance
NM_012156.2(EPB41L1):c.1869G>A (p.Thr623=) single nucleotide variant not provided [RCV000948045]|not specified [RCV000116979] Chr20:36209688 [GRCh38]
Chr20:34797610 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_012156.2(EPB41L1):c.2060C>T (p.Pro687Leu) single nucleotide variant not specified [RCV000116980] Chr20:36209879 [GRCh38]
Chr20:34797801 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_012156.2(EPB41L1):c.555A>G (p.Glu185=) single nucleotide variant not provided [RCV000971686]|not specified [RCV000116982] Chr20:36182336 [GRCh38]
Chr20:34770258 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_012156.2(EPB41L1):c.873+7C>G single nucleotide variant not provided [RCV000967552]|not specified [RCV000116983] Chr20:36187770 [GRCh38]
Chr20:34775692 [GRCh37]
Chr20:20q11.23		 benign|likely benign
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1 copy number loss See cases [RCV000135440] Chr20:33432363..36821881 [GRCh38]
Chr20:32020169..35450284 [GRCh37]
Chr20:31483830..34883698 [NCBI36]
Chr20:20q11.21-11.23		 pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
NM_012156.2(EPB41L1):c.57G>A (p.Pro19=) single nucleotide variant not specified [RCV000192442] Chr20:36173834 [GRCh38]
Chr20:34761756 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1643A>G (p.Lys548Arg) single nucleotide variant EPB41L1-related condition [RCV003977512]|not provided [RCV000960314]|not specified [RCV000192502] Chr20:36198016 [GRCh38]
Chr20:34785938 [GRCh37]
Chr20:20q11.23		 benign|likely benign|uncertain significance
NM_012156.2(EPB41L1):c.1451C>T (p.Pro484Leu) single nucleotide variant EPB41L1-related condition [RCV003907683]|not provided [RCV000888122]|not specified [RCV000193048] Chr20:36195330 [GRCh38]
Chr20:34783252 [GRCh37]
Chr20:20q11.23		 benign|likely benign|uncertain significance
NM_012156.2(EPB41L1):c.1661C>A (p.Ala554Asp) single nucleotide variant Inborn genetic diseases [RCV002517074]|not specified [RCV000193339] Chr20:36198034 [GRCh38]
Chr20:34785956 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_012156.2(EPB41L1):c.2332A>G (p.Thr778Ala) single nucleotide variant not specified [RCV000193790] Chr20:36218939 [GRCh38]
Chr20:34806861 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_012156.2(EPB41L1):c.1539G>A (p.Glu513=) single nucleotide variant not provided [RCV003436987]|not specified [RCV000194269] Chr20:36197912 [GRCh38]
Chr20:34785834 [GRCh37]
Chr20:20q11.23		 benign|likely benign|uncertain significance
NM_012156.2(EPB41L1):c.531G>T (p.Pro177=) single nucleotide variant not provided [RCV000974660]|not specified [RCV000194639] Chr20:36182312 [GRCh38]
Chr20:34770234 [GRCh37]
Chr20:20q11.23		 benign|likely benign|uncertain significance
NM_012156.2(EPB41L1):c.1893C>T (p.Ser631=) single nucleotide variant not provided [RCV000922656]|not specified [RCV000192554] Chr20:36209712 [GRCh38]
Chr20:34797634 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_012156.2(EPB41L1):c.1772C>T (p.Thr591Met) single nucleotide variant Inborn genetic diseases [RCV002517934]|not provided [RCV003430741]|not specified [RCV000194355] Chr20:36209591 [GRCh38]
Chr20:34797513 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_012156.2(EPB41L1):c.1912C>T (p.Arg638Cys) single nucleotide variant Abnormal brain morphology [RCV000454281] Chr20:36209731 [GRCh38]
Chr20:34797653 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_012156.2(EPB41L1):c.1245C>T (p.Pro415=) single nucleotide variant not provided [RCV000882535]|not specified [RCV000455243] Chr20:36190742 [GRCh38]
Chr20:34778664 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_012156.2(EPB41L1):c.1420A>G (p.Arg474Gly) single nucleotide variant not provided [RCV000514738] Chr20:36194331 [GRCh38]
Chr20:34782253 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1965G>C (p.Leu655=) single nucleotide variant not specified [RCV000503493] Chr20:36209784 [GRCh38]
Chr20:34797706 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1606C>T (p.Arg536Cys) single nucleotide variant not specified [RCV000503623] Chr20:36197979 [GRCh38]
Chr20:34785901 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_012156.2(EPB41L1):c.990G>A (p.Lys330=) single nucleotide variant not specified [RCV000501517] Chr20:36188463 [GRCh38]
Chr20:34776385 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.726C>T (p.Phe242=) single nucleotide variant not provided [RCV000889857]|not specified [RCV000499411] Chr20:36185276 [GRCh38]
Chr20:34773198 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_012156.2(EPB41L1):c.1900G>A (p.Glu634Lys) single nucleotide variant not specified [RCV000504159] Chr20:36209719 [GRCh38]
Chr20:34797641 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1934G>A (p.Arg645Gln) single nucleotide variant EPB41L1-related condition [RCV003960162]|not provided [RCV000904326]|not specified [RCV000502073] Chr20:36209753 [GRCh38]
Chr20:34797675 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_012156.2(EPB41L1):c.1286G>A (p.Arg429His) single nucleotide variant Inborn genetic diseases [RCV003302738]|not specified [RCV000502097] Chr20:36190783 [GRCh38]
Chr20:34778705 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_012156.2(EPB41L1):c.224C>T (p.Ser75Leu) single nucleotide variant not specified [RCV000500439] Chr20:36175597 [GRCh38]
Chr20:34763519 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1626C>T (p.Pro542=) single nucleotide variant not provided [RCV000897874]|not specified [RCV000500605] Chr20:36197999 [GRCh38]
Chr20:34785921 [GRCh37]
Chr20:20q11.23		 likely benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_012156.2(EPB41L1):c.1844G>C (p.Ser615Thr) single nucleotide variant Intellectual disability, autosomal dominant 11 [RCV000679982] Chr20:36209663 [GRCh38]
Chr20:34797585 [GRCh37]
Chr20:20q11.23		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_012156.2(EPB41L1):c.1791C>T (p.Asn597=) single nucleotide variant not provided [RCV000976742] Chr20:36209610 [GRCh38]
Chr20:34797532 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.566+8C>T single nucleotide variant not provided [RCV000906747] Chr20:36182355 [GRCh38]
Chr20:34770277 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1182G>A (p.Arg394=) single nucleotide variant not provided [RCV000971087] Chr20:36190679 [GRCh38]
Chr20:34778601 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_012156.2(EPB41L1):c.849C>T (p.Tyr283=) single nucleotide variant not provided [RCV000924239] Chr20:36187739 [GRCh38]
Chr20:34775661 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1323G>A (p.Ser441=) single nucleotide variant not provided [RCV000882965] Chr20:36194234 [GRCh38]
Chr20:34782156 [GRCh37]
Chr20:20q11.23		 benign
NM_012156.2(EPB41L1):c.1026+10C>T single nucleotide variant not provided [RCV000969331] Chr20:36188509 [GRCh38]
Chr20:34776431 [GRCh37]
Chr20:20q11.23		 benign
NM_012156.2(EPB41L1):c.1635C>T (p.Pro545=) single nucleotide variant not provided [RCV000902322] Chr20:36198008 [GRCh38]
Chr20:34785930 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.786-10T>C single nucleotide variant not provided [RCV000940552] Chr20:36187666 [GRCh38]
Chr20:34775588 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1401G>A (p.Glu467=) single nucleotide variant not provided [RCV000919088] Chr20:36194312 [GRCh38]
Chr20:34782234 [GRCh37]
Chr20:20q11.23		 likely benign
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 copy number gain not provided [RCV000849735] Chr20:29833608..35087952 [GRCh37]
Chr20:20q11.21-11.23		 pathogenic
NM_012156.2(EPB41L1):c.2207T>C (p.Val736Ala) single nucleotide variant Intellectual disability, autosomal dominant 11 [RCV001198025] Chr20:36214379 [GRCh38]
Chr20:34802301 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.2354C>T (p.Pro785Leu) single nucleotide variant Inborn genetic diseases [RCV003292084] Chr20:36218961 [GRCh38]
Chr20:34806883 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.2638-4C>T single nucleotide variant not provided [RCV000916969] Chr20:36229328 [GRCh38]
Chr20:34817250 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.582G>C (p.Leu194=) single nucleotide variant not provided [RCV000955583] Chr20:36185132 [GRCh38]
Chr20:34773054 [GRCh37]
Chr20:20q11.23		 benign
NM_012156.2(EPB41L1):c.903C>T (p.Gly301=) single nucleotide variant not provided [RCV000911166] Chr20:36188376 [GRCh38]
Chr20:34776298 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.566+7G>A single nucleotide variant not provided [RCV000933837] Chr20:36182354 [GRCh38]
Chr20:34770276 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.768G>A (p.Glu256=) single nucleotide variant not provided [RCV000912505] Chr20:36185318 [GRCh38]
Chr20:34773240 [GRCh37]
Chr20:20q11.23		 benign
NM_012156.2(EPB41L1):c.942G>A (p.Leu314=) single nucleotide variant not provided [RCV000912079] Chr20:36188415 [GRCh38]
Chr20:34776337 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.372C>T (p.Asp124=) single nucleotide variant not provided [RCV000934302] Chr20:36177981 [GRCh38]
Chr20:34765903 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.111C>T (p.His37=) single nucleotide variant not provided [RCV000911882]|not specified [RCV001818833] Chr20:36173888 [GRCh38]
Chr20:34761810 [GRCh37]
Chr20:20q11.23		 benign|likely benign
NM_001258330.1(EPB41L1):c.17G>A (p.Arg6Lys) single nucleotide variant Intellectual disability, autosomal dominant 11 [RCV002472171] Chr20:36125460 [GRCh38]
Chr20:34713382 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.2269_2271del deletion Intellectual disability [RCV001252480] Chr20:36218874..36218876 [GRCh38]
Chr20:34806796..34806798 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1325T>A (p.Val442Asp) single nucleotide variant Intellectual disability [RCV001252245] Chr20:36194236 [GRCh38]
Chr20:34782158 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1600C>T (p.Arg534Trp) single nucleotide variant Intellectual disability [RCV001252244] Chr20:36197973 [GRCh38]
Chr20:34785895 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1892G>T (p.Ser631Ile) single nucleotide variant Intellectual disability, autosomal dominant 11 [RCV001328644] Chr20:36209711 [GRCh38]
Chr20:34797633 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_001258329.1(EPB41L1):c.-15+11729G>A single nucleotide variant Intellectual disability, autosomal dominant 11 [RCV001733557]|not provided [RCV002488499] Chr20:36125528 [GRCh38]
Chr20:34713450 [GRCh37]
Chr20:20q11.23		 uncertain significance|no classifications from unflagged records
NM_012156.2(EPB41L1):c.1781T>C (p.Leu594Pro) single nucleotide variant not specified [RCV001819604] Chr20:36209600 [GRCh38]
Chr20:34797522 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.343-6C>T single nucleotide variant not specified [RCV001819313] Chr20:36177946 [GRCh38]
Chr20:34765868 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1180C>T (p.Arg394Trp) single nucleotide variant not specified [RCV001822851] Chr20:36190677 [GRCh38]
Chr20:34778599 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.130T>C (p.Ser44Pro) single nucleotide variant Intellectual disability, autosomal dominant 11 [RCV001837353] Chr20:36173907 [GRCh38]
Chr20:34761829 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1982T>C (p.Leu661Pro) single nucleotide variant Intellectual disability, autosomal dominant 11 [RCV002286552] Chr20:36209801 [GRCh38]
Chr20:34797723 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1807C>T (p.Arg603Cys) single nucleotide variant Intellectual disability, autosomal dominant 11 [RCV002467415] Chr20:36209626 [GRCh38]
Chr20:34797548 [GRCh37]
Chr20:20q11.23		 uncertain significance
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3 copy number gain not provided [RCV002474532] Chr20:29833535..34815537 [GRCh37]
Chr20:20q11.21-11.23		 likely pathogenic
NM_012156.2(EPB41L1):c.1476C>T (p.His492=) single nucleotide variant Inborn genetic diseases [RCV002397039] Chr20:36195355 [GRCh38]
Chr20:34783277 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1692C>T (p.Ser564=) single nucleotide variant Inborn genetic diseases [RCV002406170] Chr20:36209511 [GRCh38]
Chr20:34797433 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.129C>G (p.Asn43Lys) single nucleotide variant Inborn genetic diseases [RCV002901173] Chr20:36173906 [GRCh38]
Chr20:34761828 [GRCh37]
Chr20:20q11.23		 uncertain significance
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 copy number gain not provided [RCV002475651] Chr20:29652122..35603726 [GRCh37]
Chr20:20q11.21-11.23		 likely pathogenic
NM_012156.2(EPB41L1):c.2240T>C (p.Ile747Thr) single nucleotide variant Inborn genetic diseases [RCV002991915] Chr20:36214412 [GRCh38]
Chr20:34802334 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.2255T>C (p.Ile752Thr) single nucleotide variant Inborn genetic diseases [RCV002683645] Chr20:36214427 [GRCh38]
Chr20:34802349 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1975C>T (p.Arg659Trp) single nucleotide variant Inborn genetic diseases [RCV002704137] Chr20:36209794 [GRCh38]
Chr20:34797716 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1684G>A (p.Glu562Lys) single nucleotide variant not specified [RCV002510341] Chr20:36209503 [GRCh38]
Chr20:34797425 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1664A>G (p.Asn555Ser) single nucleotide variant Inborn genetic diseases [RCV002762270] Chr20:36198037 [GRCh38]
Chr20:34785959 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.112G>A (p.Gly38Ser) single nucleotide variant EPB41L1-related condition [RCV003919002]|Inborn genetic diseases [RCV002739155] Chr20:36173889 [GRCh38]
Chr20:34761811 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_012156.2(EPB41L1):c.2351C>G (p.Ser784Cys) single nucleotide variant Inborn genetic diseases [RCV002782864] Chr20:36218958 [GRCh38]
Chr20:34806880 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.353G>A (p.Arg118Gln) single nucleotide variant Inborn genetic diseases [RCV002978876] Chr20:36177962 [GRCh38]
Chr20:34765884 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1405G>A (p.Glu469Lys) single nucleotide variant Inborn genetic diseases [RCV002951007] Chr20:36194316 [GRCh38]
Chr20:34782238 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.161C>T (p.Thr54Met) single nucleotide variant Inborn genetic diseases [RCV002739241] Chr20:36173938 [GRCh38]
Chr20:34761860 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1943G>A (p.Ser648Asn) single nucleotide variant Inborn genetic diseases [RCV002804050] Chr20:36209762 [GRCh38]
Chr20:34797684 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1763A>T (p.Glu588Val) single nucleotide variant Inborn genetic diseases [RCV002916261] Chr20:36209582 [GRCh38]
Chr20:34797504 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.22G>A (p.Asp8Asn) single nucleotide variant Inborn genetic diseases [RCV002830543] Chr20:36173799 [GRCh38]
Chr20:34761721 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1603G>C (p.Glu535Gln) single nucleotide variant Inborn genetic diseases [RCV002712263] Chr20:36197976 [GRCh38]
Chr20:34785898 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.197A>G (p.Lys66Arg) single nucleotide variant Inborn genetic diseases [RCV002930024] Chr20:36175570 [GRCh38]
Chr20:34763492 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1978G>C (p.Asp660His) single nucleotide variant Inborn genetic diseases [RCV002853876]|not provided [RCV003435907] Chr20:36209797 [GRCh38]
Chr20:34797719 [GRCh37]
Chr20:20q11.23		 likely benign|uncertain significance
NM_012156.2(EPB41L1):c.1396T>A (p.Ser466Thr) single nucleotide variant Inborn genetic diseases [RCV002767863] Chr20:36194307 [GRCh38]
Chr20:34782229 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1462A>G (p.Thr488Ala) single nucleotide variant Inborn genetic diseases [RCV003201336] Chr20:36195341 [GRCh38]
Chr20:34783263 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1318G>C (p.Ala440Pro) single nucleotide variant not specified [RCV003324160] Chr20:36194229 [GRCh38]
Chr20:34782151 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.2161G>T (p.Val721Phe) single nucleotide variant Inborn genetic diseases [RCV003378867] Chr20:36212353 [GRCh38]
Chr20:34800275 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.133A>G (p.Asn45Asp) single nucleotide variant Inborn genetic diseases [RCV003369953] Chr20:36173910 [GRCh38]
Chr20:34761832 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.2218T>A (p.Phe740Ile) single nucleotide variant Inborn genetic diseases [RCV003361843] Chr20:36214390 [GRCh38]
Chr20:34802312 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.123G>T (p.Glu41Asp) single nucleotide variant Inborn genetic diseases [RCV003362462] Chr20:36173900 [GRCh38]
Chr20:34761822 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1732_1733del (p.Glu577_Ser578insTer) microsatellite not provided [RCV003440385] Chr20:36209547..36209548 [GRCh38]
Chr20:34797469..34797470 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.2610C>G (p.Ser870=) single nucleotide variant not provided [RCV003440386] Chr20:36222367 [GRCh38]
Chr20:34810289 [GRCh37]
Chr20:20q11.23		 likely benign
GRCh37/hg19 20q11.23(chr20:34795376-35025530)x3 copy number gain not provided [RCV003485213] Chr20:34795376..35025530 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.665C>T (p.Ala222Val) single nucleotide variant not specified [RCV003479802] Chr20:36185215 [GRCh38]
Chr20:34773137 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.783T>C (p.Tyr261=) single nucleotide variant not provided [RCV003440381] Chr20:36185333 [GRCh38]
Chr20:34773255 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1669-3105C>T single nucleotide variant not provided [RCV003440382] Chr20:36206383 [GRCh38]
Chr20:34794305 [GRCh37]
Chr20:20q11.23		 benign
NM_012156.2(EPB41L1):c.1669-1775C>A single nucleotide variant not provided [RCV003440383] Chr20:36207713 [GRCh38]
Chr20:34795635 [GRCh37]
Chr20:20q11.23		 benign
NM_012156.2(EPB41L1):c.1669-3415A>C single nucleotide variant not provided [RCV003431310] Chr20:36206073 [GRCh38]
Chr20:34793995 [GRCh37]
Chr20:20q11.23		 benign
NM_012156.2(EPB41L1):c.414C>T (p.Phe138=) single nucleotide variant not provided [RCV003431308] Chr20:36178023 [GRCh38]
Chr20:34765945 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.240C>A (p.Pro80=) single nucleotide variant not provided [RCV003440380] Chr20:36175613 [GRCh38]
Chr20:34763535 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1714C>T (p.Arg572Cys) single nucleotide variant not provided [RCV003440384] Chr20:36209533 [GRCh38]
Chr20:34797455 [GRCh37]
Chr20:20q11.23		 benign
NM_012156.2(EPB41L1):c.1201G>A (p.Ala401Thr) single nucleotide variant not provided [RCV003431309] Chr20:36190698 [GRCh38]
Chr20:34778620 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.213C>T (p.Ala71=) single nucleotide variant not provided [RCV003431307] Chr20:36175586 [GRCh38]
Chr20:34763508 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.2361C>T (p.Ile787=) single nucleotide variant EPB41L1-related condition [RCV003944065] Chr20:36219766 [GRCh38]
Chr20:34807688 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.2079+5A>G single nucleotide variant EPB41L1-related condition [RCV003896361] Chr20:36209903 [GRCh38]
Chr20:34797825 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.2079+4C>T single nucleotide variant EPB41L1-related condition [RCV003934748] Chr20:36209902 [GRCh38]
Chr20:34797824 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1330G>A (p.Glu444Lys) single nucleotide variant not provided [RCV003887191] Chr20:36194241 [GRCh38]
Chr20:34782163 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1949C>T (p.Ser650Leu) single nucleotide variant EPB41L1-related condition [RCV003957253] Chr20:36209768 [GRCh38]
Chr20:34797690 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.2037G>A (p.Pro679=) single nucleotide variant EPB41L1-related condition [RCV003933924] Chr20:36209856 [GRCh38]
Chr20:34797778 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1394G>A (p.Arg465Gln) single nucleotide variant not provided [RCV003886192] Chr20:36194305 [GRCh38]
Chr20:34782227 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.1994C>T (p.Ala665Val) single nucleotide variant EPB41L1-related condition [RCV003894535] Chr20:36209813 [GRCh38]
Chr20:34797735 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_012156.2(EPB41L1):c.1242A>C (p.Ala414=) single nucleotide variant EPB41L1-related condition [RCV003969186] Chr20:36190739 [GRCh38]
Chr20:34778661 [GRCh37]
Chr20:20q11.23		 likely benign
NM_012156.2(EPB41L1):c.740C>G (p.Thr247Ser) single nucleotide variant Inborn genetic diseases [RCV003345565]|not provided [RCV003436029] Chr20:36185290 [GRCh38]
Chr20:34773212 [GRCh37]
Chr20:20q11.23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:10623
Count of miRNA genes:1307
Interacting mature miRNAs:1704
Transcripts:ENST00000202028, ENST00000338074, ENST00000373941, ENST00000373945, ENST00000373946, ENST00000373950, ENST00000406771, ENST00000427533, ENST00000430276, ENST00000432589, ENST00000432603, ENST00000441639, ENST00000447825, ENST00000451082, ENST00000452261, ENST00000454226, ENST00000479336
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.

Markers in Region
D20S896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,698,470 - 34,698,620UniSTSGRCh37
Build 362034,161,884 - 34,162,034RGDNCBI36
Celera2031,447,234 - 31,447,384RGD
HuRef2031,476,040 - 31,476,190UniSTS
HuRef2031,476,086 - 31,476,190UniSTS
HuRef2031,476,146 - 31,476,190UniSTS
Marshfield Genetic Map2050.81RGD
Marshfield Genetic Map2050.81UniSTS
Genethon Genetic Map2050.2UniSTS
deCODE Assembly Map2057.18UniSTS
D20S870  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,701,235 - 34,701,411UniSTSGRCh37
Build 362034,164,649 - 34,164,825RGDNCBI36
Celera2031,449,999 - 31,450,173RGD
Cytogenetic Map20q11.2-q12UniSTS
HuRef2031,478,805 - 31,478,981UniSTS
Marshfield Genetic Map2050.81UniSTS
Marshfield Genetic Map2050.81RGD
Genethon Genetic Map2050.7UniSTS
deCODE Assembly Map2057.18UniSTS
D20S865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,730,904 - 34,731,159UniSTSGRCh37
Build 362034,194,318 - 34,194,573RGDNCBI36
Celera2031,479,676 - 31,479,931RGD
Cytogenetic Map20q11.2-q12UniSTS
HuRef2031,508,476 - 31,508,731UniSTS
Marshfield Genetic Map2050.81RGD
Marshfield Genetic Map2050.81UniSTS
Genethon Genetic Map2050.2UniSTS
BCD2079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,819,413 - 34,819,506UniSTSGRCh37
Build 362034,282,827 - 34,282,920RGDNCBI36
Celera2031,568,185 - 31,568,278RGD
Cytogenetic Map20q11.2-q12UniSTS
HuRef2031,596,877 - 31,596,970UniSTS
GeneMap99-GB4 RH Map20205.17UniSTS
NCBI RH Map20302.1UniSTS
WI-22026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,820,471 - 34,820,719UniSTSGRCh37
Build 362034,283,885 - 34,284,133RGDNCBI36
Celera2031,569,243 - 31,569,491RGD
Cytogenetic Map20q11.2-q12UniSTS
HuRef2031,597,935 - 31,598,183UniSTS
GeneMap99-GB4 RH Map20207.39UniSTS
Whitehead-RH Map20213.6UniSTS
NCBI RH Map20299.3UniSTS
RH38950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,818,017 - 34,818,199UniSTSGRCh37
Build 362034,281,431 - 34,281,613RGDNCBI36
Celera2031,566,789 - 31,566,971RGD
Cytogenetic Map20q11.2-q12UniSTS
HuRef2031,595,481 - 31,595,663UniSTS
RH120714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,785,948 - 34,786,058UniSTSGRCh37
Build 362034,249,362 - 34,249,472RGDNCBI36
Celera2031,534,720 - 31,534,830RGD
Cytogenetic Map20q11.2-q12UniSTS
HuRef2031,563,411 - 31,563,521UniSTS
Z94296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,715,106 - 34,715,273UniSTSGRCh37
Build 362034,178,520 - 34,178,687RGDNCBI36
Celera2031,463,869 - 31,464,036RGD
Cytogenetic Map20q11.2-q12UniSTS
HuRef2031,492,677 - 31,492,844UniSTS
EPB41L1__7596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,820,109 - 34,820,873UniSTSGRCh37
Build 362034,283,523 - 34,284,287RGDNCBI36
Celera2031,568,881 - 31,569,649RGD
HuRef2031,597,573 - 31,598,337UniSTS
D20S143E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,819,490 - 34,819,576UniSTSGRCh37
Build 362034,282,904 - 34,282,990RGDNCBI36
Celera2031,568,262 - 31,568,348RGD
Cytogenetic Map20q11.2-q12UniSTS
HuRef2031,596,954 - 31,597,040UniSTS
G30416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,818,710 - 34,818,859UniSTSGRCh37
Build 362034,282,124 - 34,282,273RGDNCBI36
Celera2031,567,482 - 31,567,631RGD
Cytogenetic Map20q11.2-q12UniSTS
HuRef2031,596,174 - 31,596,323UniSTS
D20S587E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,819,128 - 34,819,281UniSTSGRCh37
Build 362034,282,542 - 34,282,695RGDNCBI36
Celera2031,567,900 - 31,568,053RGD
Cytogenetic Map20q11.2-q12UniSTS
HuRef2031,596,592 - 31,596,745UniSTS
GeneMap99-GB4 RH Map20207.94UniSTS
NCBI RH Map20293.1UniSTS
MARC_15779-15780:1017948347:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,806,836 - 34,807,746UniSTSGRCh37
Build 362034,270,250 - 34,271,160RGDNCBI36
Celera2031,555,608 - 31,556,518RGD
HuRef2031,584,299 - 31,585,209UniSTS
RH129967  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef2031,597,971 - 31,598,176UniSTS
EPB41L1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372034,809,811 - 34,810,312UniSTSGRCh37
Celera2031,558,583 - 31,559,084UniSTS
HuRef2031,587,274 - 31,587,775UniSTS
UniSTS:489963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371739,316,206 - 39,316,973UniSTSGRCh37
Celera1735,979,911 - 35,980,678UniSTS
HuRef1735,091,343 - 35,092,110UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1701 1249 1118 222 73 78 2143 619 3438 383 1200 1284 156 999 1213 3
Low 735 987 593 393 634 378 2212 1569 289 36 251 322 17 1 205 1575 1 2
Below cutoff 2 739 13 9 1152 9 3 6 9 6 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001424407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY049789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI457725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB503878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000202028   ⟹   ENSP00000202028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,091,504 - 36,230,341 (+)Ensembl
RefSeq Acc Id: ENST00000338074   ⟹   ENSP00000337168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,154,740 - 36,232,799 (+)Ensembl
RefSeq Acc Id: ENST00000373941   ⟹   ENSP00000363052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,173,769 - 36,229,340 (+)Ensembl
RefSeq Acc Id: ENST00000373945   ⟹   ENSP00000363056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,154,742 - 36,185,335 (+)Ensembl
RefSeq Acc Id: ENST00000373946   ⟹   ENSP00000363057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,092,710 - 36,232,799 (+)Ensembl
RefSeq Acc Id: ENST00000373950   ⟹   ENSP00000363061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,092,710 - 36,230,327 (+)Ensembl
RefSeq Acc Id: ENST00000406771   ⟹   ENSP00000385244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,092,680 - 36,182,285 (+)Ensembl
RefSeq Acc Id: ENST00000427533   ⟹   ENSP00000408877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,121,722 - 36,173,954 (+)Ensembl
RefSeq Acc Id: ENST00000430276   ⟹   ENSP00000404341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,092,698 - 36,188,430 (+)Ensembl
RefSeq Acc Id: ENST00000432589   ⟹   ENSP00000393106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,091,842 - 36,175,671 (+)Ensembl
RefSeq Acc Id: ENST00000432603   ⟹   ENSP00000390262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,214,373 - 36,229,845 (+)Ensembl
RefSeq Acc Id: ENST00000441639   ⟹   ENSP00000399214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,092,710 - 36,232,799 (+)Ensembl
RefSeq Acc Id: ENST00000447825   ⟹   ENSP00000396366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,092,837 - 36,175,715 (+)Ensembl
RefSeq Acc Id: ENST00000451082   ⟹   ENSP00000406464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,190,765 - 36,221,944 (+)Ensembl
RefSeq Acc Id: ENST00000452261   ⟹   ENSP00000413262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,092,732 - 36,182,347 (+)Ensembl
RefSeq Acc Id: ENST00000454226   ⟹   ENSP00000388281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,197,880 - 36,221,934 (+)Ensembl
RefSeq Acc Id: ENST00000479336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,207,451 - 36,212,376 (+)Ensembl
RefSeq Acc Id: ENST00000628415   ⟹   ENSP00000487049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,092,712 - 36,230,343 (+)Ensembl
RefSeq Acc Id: ENST00000636016   ⟹   ENSP00000489867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,154,740 - 36,232,799 (+)Ensembl
RefSeq Acc Id: NM_001258329   ⟹   NP_001245258
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,092,710 - 36,232,799 (+)NCBI
GRCh372034,679,426 - 34,820,721 (+)NCBI
HuRef2031,457,074 - 31,598,185 (+)NCBI
CHM1_12034,582,771 - 34,722,846 (+)NCBI
T2T-CHM13v2.02037,813,695 - 37,953,498 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001258330   ⟹   NP_001245259
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,092,710 - 36,232,799 (+)NCBI
HuRef2031,457,074 - 31,598,185 (+)NCBI
CHM1_12034,582,771 - 34,722,846 (+)NCBI
T2T-CHM13v2.02037,813,695 - 37,953,498 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001258331   ⟹   NP_001245260
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,091,414 - 36,232,799 (+)NCBI
HuRef2031,457,074 - 31,598,185 (+)NCBI
CHM1_12034,581,565 - 34,722,846 (+)NCBI
T2T-CHM13v2.02037,812,399 - 37,953,498 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001424373   ⟹   NP_001411302
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424374   ⟹   NP_001411303
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424375   ⟹   NP_001411304
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424376   ⟹   NP_001411305
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424377   ⟹   NP_001411306
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424378   ⟹   NP_001411307
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424379   ⟹   NP_001411308
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424380   ⟹   NP_001411309
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424381   ⟹   NP_001411310
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424382   ⟹   NP_001411311
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424383   ⟹   NP_001411312
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424384   ⟹   NP_001411313
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424385   ⟹   NP_001411314
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424386   ⟹   NP_001411315
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424387   ⟹   NP_001411316
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424388   ⟹   NP_001411317
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424389   ⟹   NP_001411318
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424390   ⟹   NP_001411319
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424391   ⟹   NP_001411320
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424392   ⟹   NP_001411321
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424393   ⟹   NP_001411322
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424394   ⟹   NP_001411323
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424395   ⟹   NP_001411324
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424396   ⟹   NP_001411325
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424397   ⟹   NP_001411326
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424398   ⟹   NP_001411327
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424399   ⟹   NP_001411328
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424400   ⟹   NP_001411329
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424401   ⟹   NP_001411330
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424402   ⟹   NP_001411331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424403   ⟹   NP_001411332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,092,710 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,813,695 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424404   ⟹   NP_001411333
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,092,710 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,813,695 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424405   ⟹   NP_001411334
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,092,710 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,813,695 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424406   ⟹   NP_001411335
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,092,710 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,813,695 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_001424407   ⟹   NP_001411336
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,092,710 - 36,232,799 (+)NCBI
T2T-CHM13v2.02037,813,695 - 37,953,498 (+)NCBI
RefSeq Acc Id: NM_012156   ⟹   NP_036288
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
GRCh372034,679,426 - 34,820,721 (+)NCBI
Build 362034,206,076 - 34,284,135 (+)NCBI Archive
HuRef2031,457,074 - 31,598,185 (+)NCBI
CHM1_12034,644,787 - 34,722,846 (+)NCBI
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
Sequence:
RefSeq Acc Id: NM_177996   ⟹   NP_818932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,092,710 - 36,232,799 (+)NCBI
GRCh372034,679,426 - 34,820,721 (+)NCBI
Build 362034,163,762 - 34,284,135 (+)NCBI Archive
HuRef2031,457,074 - 31,598,185 (+)NCBI
CHM1_12034,582,771 - 34,722,846 (+)NCBI
T2T-CHM13v2.02037,813,695 - 37,953,498 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528685   ⟹   XP_011526987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,173,764 - 36,232,799 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047439966   ⟹   XP_047295922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
RefSeq Acc Id: XM_047439972   ⟹   XP_047295928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,092,710 - 36,232,799 (+)NCBI
RefSeq Acc Id: XM_047439973   ⟹   XP_047295929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
RefSeq Acc Id: XM_047439974   ⟹   XP_047295930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
RefSeq Acc Id: XM_047439975   ⟹   XP_047295931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,092,710 - 36,232,799 (+)NCBI
RefSeq Acc Id: XM_047439976   ⟹   XP_047295932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
RefSeq Acc Id: XM_047439983   ⟹   XP_047295939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,092,710 - 36,232,799 (+)NCBI
RefSeq Acc Id: XM_047439984   ⟹   XP_047295940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
RefSeq Acc Id: XM_047439985   ⟹   XP_047295941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,092,710 - 36,232,799 (+)NCBI
RefSeq Acc Id: XM_047439988   ⟹   XP_047295944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
RefSeq Acc Id: XM_047439989   ⟹   XP_047295945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
RefSeq Acc Id: XM_047440009   ⟹   XP_047295965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,232,799 (+)NCBI
RefSeq Acc Id: XM_054323143   ⟹   XP_054179118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: XM_054323152   ⟹   XP_054179127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,813,695 - 37,953,498 (+)NCBI
RefSeq Acc Id: XM_054323153   ⟹   XP_054179128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: XM_054323154   ⟹   XP_054179129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: XM_054323155   ⟹   XP_054179130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,813,695 - 37,953,498 (+)NCBI
RefSeq Acc Id: XM_054323156   ⟹   XP_054179131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: XM_054323161   ⟹   XP_054179136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,813,695 - 37,953,498 (+)NCBI
RefSeq Acc Id: XM_054323164   ⟹   XP_054179139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,813,695 - 37,953,498 (+)NCBI
RefSeq Acc Id: XM_054323165   ⟹   XP_054179140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,894,756 - 37,953,498 (+)NCBI
RefSeq Acc Id: XM_054323166   ⟹   XP_054179141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: XM_054323167   ⟹   XP_054179142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,813,695 - 37,953,498 (+)NCBI
RefSeq Acc Id: XM_054323170   ⟹   XP_054179145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: XM_054323171   ⟹   XP_054179146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
RefSeq Acc Id: XM_054323190   ⟹   XP_054179165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02037,875,732 - 37,953,498 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001245258 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245259 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245260 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411302 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411303 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411304 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411305 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411306 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411307 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411308 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411309 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411310 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411311 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411312 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411313 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411314 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411315 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411316 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411317 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411318 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411319 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411320 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411321 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411322 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411323 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411324 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411325 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411326 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411327 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411328 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411329 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411330 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411331 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411332 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411333 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411334 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411335 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411336 (Get FASTA)   NCBI Sequence Viewer  
  NP_036288 (Get FASTA)   NCBI Sequence Viewer  
  NP_818932 (Get FASTA)   NCBI Sequence Viewer  
  XP_011526987 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295922 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295928 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295929 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295930 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295931 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295932 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295939 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295940 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295941 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295944 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295945 (Get FASTA)   NCBI Sequence Viewer  
  XP_047295965 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179118 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179127 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179128 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179129 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179130 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179131 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179136 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179139 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179140 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179141 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179142 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179145 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179146 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179165 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH13885 (Get FASTA)   NCBI Sequence Viewer  
  AAH40259 (Get FASTA)   NCBI Sequence Viewer  
  AAI13859 (Get FASTA)   NCBI Sequence Viewer  
  AAI13900 (Get FASTA)   NCBI Sequence Viewer  
  AAI31797 (Get FASTA)   NCBI Sequence Viewer  
  AAL15446 (Get FASTA)   NCBI Sequence Viewer  
  BAA20796 (Get FASTA)   NCBI Sequence Viewer  
  BAC86733 (Get FASTA)   NCBI Sequence Viewer  
  BAG53378 (Get FASTA)   NCBI Sequence Viewer  
  BAH13139 (Get FASTA)   NCBI Sequence Viewer  
  CAD97941 (Get FASTA)   NCBI Sequence Viewer  
  EAW76144 (Get FASTA)   NCBI Sequence Viewer  
  EAW76145 (Get FASTA)   NCBI Sequence Viewer  
  EAW76146 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000202028
  ENSP00000202028.5
  ENSP00000337168
  ENSP00000337168.2
  ENSP00000363052
  ENSP00000363052.1
  ENSP00000363056.1
  ENSP00000363057
  ENSP00000363057.4
  ENSP00000363061
  ENSP00000363061.2
  ENSP00000385244.2
  ENSP00000388281.1
  ENSP00000390262.1
  ENSP00000393106.1
  ENSP00000396366.1
  ENSP00000399214
  ENSP00000399214.1
  ENSP00000404341.1
  ENSP00000406464.1
  ENSP00000408877.1
  ENSP00000413262.1
  ENSP00000487049
  ENSP00000487049.2
  ENSP00000489867.2
GenBank Protein Q9H4G0 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_818932   ⟸   NM_177996
- Peptide Label: isoform b
- UniProtKB: B3KUB6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_036288   ⟸   NM_012156
- Peptide Label: isoform a
- UniProtKB: Q96CV5 (UniProtKB/Swiss-Prot),   Q8IUU7 (UniProtKB/Swiss-Prot),   Q6ZT61 (UniProtKB/Swiss-Prot),   Q4VXN4 (UniProtKB/Swiss-Prot),   Q4VXM8 (UniProtKB/Swiss-Prot),   Q4VXM7 (UniProtKB/Swiss-Prot),   Q4VXM6 (UniProtKB/Swiss-Prot),   O15046 (UniProtKB/Swiss-Prot),   Q96L65 (UniProtKB/Swiss-Prot),   Q9H4G0 (UniProtKB/Swiss-Prot),   B3KUB6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245260   ⟸   NM_001258331
- Peptide Label: isoform b
- UniProtKB: B3KUB6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245259   ⟸   NM_001258330
- Peptide Label: isoform d
- UniProtKB: B3KUB6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245258   ⟸   NM_001258329
- Peptide Label: isoform c
- UniProtKB: A0A0C4DH22 (UniProtKB/TrEMBL),   B3KUB6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011526987   ⟸   XM_011528685
- Peptide Label: isoform X17
- UniProtKB: B3KUB6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000489867   ⟸   ENST00000636016
RefSeq Acc Id: ENSP00000406464   ⟸   ENST00000451082
RefSeq Acc Id: ENSP00000202028   ⟸   ENST00000202028
RefSeq Acc Id: ENSP00000408877   ⟸   ENST00000427533
RefSeq Acc Id: ENSP00000363061   ⟸   ENST00000373950
RefSeq Acc Id: ENSP00000363052   ⟸   ENST00000373941
RefSeq Acc Id: ENSP00000363056   ⟸   ENST00000373945
RefSeq Acc Id: ENSP00000363057   ⟸   ENST00000373946
RefSeq Acc Id: ENSP00000413262   ⟸   ENST00000452261
RefSeq Acc Id: ENSP00000388281   ⟸   ENST00000454226
RefSeq Acc Id: ENSP00000399214   ⟸   ENST00000441639
RefSeq Acc Id: ENSP00000337168   ⟸   ENST00000338074
RefSeq Acc Id: ENSP00000487049   ⟸   ENST00000628415
RefSeq Acc Id: ENSP00000404341   ⟸   ENST00000430276
RefSeq Acc Id: ENSP00000385244   ⟸   ENST00000406771
RefSeq Acc Id: ENSP00000390262   ⟸   ENST00000432603
RefSeq Acc Id: ENSP00000393106   ⟸   ENST00000432589
RefSeq Acc Id: ENSP00000396366   ⟸   ENST00000447825
RefSeq Acc Id: XP_047295928   ⟸   XM_047439972
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047295931   ⟸   XM_047439975
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047295941   ⟸   XM_047439985
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047295939   ⟸   XM_047439983
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047295922   ⟸   XM_047439966
- Peptide Label: isoform X1
- UniProtKB: A0A0C4DH22 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047295932   ⟸   XM_047439976
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047295929   ⟸   XM_047439973
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047295930   ⟸   XM_047439974
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047295940   ⟸   XM_047439984
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047295944   ⟸   XM_047439988
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047295945   ⟸   XM_047439989
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047295965   ⟸   XM_047440009
- Peptide Label: isoform X39
RefSeq Acc Id: XP_054179127   ⟸   XM_054323152
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054179130   ⟸   XM_054323155
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054179142   ⟸   XM_054323167
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054179136   ⟸   XM_054323161
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054179139   ⟸   XM_054323164
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054179118   ⟸   XM_054323143
- Peptide Label: isoform X1
- UniProtKB: A0A0C4DH22 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179131   ⟸   XM_054323156
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054179128   ⟸   XM_054323153
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054179129   ⟸   XM_054323154
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054179141   ⟸   XM_054323166
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054179145   ⟸   XM_054323170
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054179146   ⟸   XM_054323171
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054179165   ⟸   XM_054323190
- Peptide Label: isoform X39
RefSeq Acc Id: XP_054179140   ⟸   XM_054323165
- Peptide Label: isoform X17
RefSeq Acc Id: NP_001411336   ⟸   NM_001424407
- Peptide Label: isoform z
RefSeq Acc Id: NP_001411335   ⟸   NM_001424406
- Peptide Label: isoform ii
RefSeq Acc Id: NP_001411334   ⟸   NM_001424405
- Peptide Label: isoform l
RefSeq Acc Id: NP_001411333   ⟸   NM_001424404
- Peptide Label: isoform j
RefSeq Acc Id: NP_001411332   ⟸   NM_001424403
- Peptide Label: isoform g
RefSeq Acc Id: NP_001411326   ⟸   NM_001424397
- Peptide Label: isoform cc
RefSeq Acc Id: NP_001411313   ⟸   NM_001424384
- Peptide Label: isoform p
RefSeq Acc Id: NP_001411330   ⟸   NM_001424401
- Peptide Label: isoform gg
RefSeq Acc Id: NP_001411329   ⟸   NM_001424400
- Peptide Label: isoform ff
RefSeq Acc Id: NP_001411325   ⟸   NM_001424396
- Peptide Label: isoform bb
RefSeq Acc Id: NP_001411317   ⟸   NM_001424388
- Peptide Label: isoform t
RefSeq Acc Id: NP_001411316   ⟸   NM_001424387
- Peptide Label: isoform s
RefSeq Acc Id: NP_001411312   ⟸   NM_001424383
- Peptide Label: isoform o
RefSeq Acc Id: NP_001411331   ⟸   NM_001424402
- Peptide Label: isoform hh
RefSeq Acc Id: NP_001411328   ⟸   NM_001424399
- Peptide Label: isoform ee
RefSeq Acc Id: NP_001411327   ⟸   NM_001424398
- Peptide Label: isoform dd
RefSeq Acc Id: NP_001411324   ⟸   NM_001424395
- Peptide Label: isoform aa
RefSeq Acc Id: NP_001411315   ⟸   NM_001424386
- Peptide Label: isoform r
RefSeq Acc Id: NP_001411314   ⟸   NM_001424385
- Peptide Label: isoform q
RefSeq Acc Id: NP_001411311   ⟸   NM_001424382
- Peptide Label: isoform n
RefSeq Acc Id: NP_001411310   ⟸   NM_001424381
- Peptide Label: isoform m
RefSeq Acc Id: NP_001411305   ⟸   NM_001424376
- Peptide Label: isoform h
RefSeq Acc Id: NP_001411323   ⟸   NM_001424394
- Peptide Label: isoform z
RefSeq Acc Id: NP_001411322   ⟸   NM_001424393
- Peptide Label: isoform y
RefSeq Acc Id: NP_001411319   ⟸   NM_001424390
- Peptide Label: isoform v
RefSeq Acc Id: NP_001411309   ⟸   NM_001424380
- Peptide Label: isoform l
RefSeq Acc Id: NP_001411302   ⟸   NM_001424373
- Peptide Label: isoform e
RefSeq Acc Id: NP_001411307   ⟸   NM_001424378
- Peptide Label: isoform j
RefSeq Acc Id: NP_001411304   ⟸   NM_001424375
- Peptide Label: isoform g
RefSeq Acc Id: NP_001411321   ⟸   NM_001424392
- Peptide Label: isoform x
RefSeq Acc Id: NP_001411320   ⟸   NM_001424391
- Peptide Label: isoform w
RefSeq Acc Id: NP_001411318   ⟸   NM_001424389
- Peptide Label: isoform u
RefSeq Acc Id: NP_001411308   ⟸   NM_001424379
- Peptide Label: isoform k
RefSeq Acc Id: NP_001411306   ⟸   NM_001424377
- Peptide Label: isoform i
RefSeq Acc Id: NP_001411303   ⟸   NM_001424374
- Peptide Label: isoform f
Protein Domains
Band 4.1 C-terminal   FERM   SAB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H4G0-F1-model_v2 AlphaFold Q9H4G0 1-881 view protein structure

Promoters
RGD ID:13206821
Promoter ID:EPDNEW_H26991
Type:initiation region
Name:EPB41L1_3
Description:erythrocyte membrane protein band 4.1 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26990  EPDNEW_H26992  EPDNEW_H26993  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,091,847 - 36,091,907EPDNEW
RGD ID:13206823
Promoter ID:EPDNEW_H26992
Type:initiation region
Name:EPB41L1_1
Description:erythrocyte membrane protein band 4.1 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26990  EPDNEW_H26991  EPDNEW_H26993  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,092,710 - 36,092,770EPDNEW
RGD ID:13206827
Promoter ID:EPDNEW_H26993
Type:initiation region
Name:EPB41L1_2
Description:erythrocyte membrane protein band 4.1 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26990  EPDNEW_H26991  EPDNEW_H26992  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,154,740 - 36,154,800EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3378 AgrOrtholog
COSMIC EPB41L1 COSMIC
Ensembl Genes ENSG00000088367 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000202028 ENTREZGENE
  ENST00000202028.9 UniProtKB/Swiss-Prot
  ENST00000338074 ENTREZGENE
  ENST00000338074.7 UniProtKB/Swiss-Prot
  ENST00000373941 ENTREZGENE
  ENST00000373941.5 UniProtKB/TrEMBL
  ENST00000373945.5 UniProtKB/TrEMBL
  ENST00000373946 ENTREZGENE
  ENST00000373946.7 UniProtKB/TrEMBL
  ENST00000373950 ENTREZGENE
  ENST00000373950.6 UniProtKB/Swiss-Prot
  ENST00000406771.6 UniProtKB/TrEMBL
  ENST00000427533.2 UniProtKB/TrEMBL
  ENST00000430276.5 UniProtKB/TrEMBL
  ENST00000432589.5 UniProtKB/TrEMBL
  ENST00000432603.1 UniProtKB/TrEMBL
  ENST00000441639 ENTREZGENE
  ENST00000441639.5 UniProtKB/Swiss-Prot
  ENST00000447825.5 UniProtKB/TrEMBL
  ENST00000451082.5 UniProtKB/TrEMBL
  ENST00000452261.5 UniProtKB/TrEMBL
  ENST00000454226.5 UniProtKB/TrEMBL
  ENST00000628415 ENTREZGENE
  ENST00000628415.2 UniProtKB/Swiss-Prot
  ENST00000636016.2 UniProtKB/TrEMBL
Gene3D-CATH 1.20.80.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000088367 GTEx
HGNC ID HGNC:3378 ENTREZGENE
Human Proteome Map EPB41L1 Human Proteome Map
InterPro Band_4.1_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Band_41_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ez/rad/moesin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM-adjacent UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM/acyl-CoA-bd_prot_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_PH-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2036 UniProtKB/Swiss-Prot
NCBI Gene 2036 ENTREZGENE
OMIM 602879 OMIM
PANTHER 4.1 G PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BAND 4.1-LIKE PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 4_1_CTD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF08736 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27811 PharmGKB
PIRSF Membrane_skeletal_4_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS BAND41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ERMFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FERM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART B41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM01195 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DH22 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GTW6_HUMAN UniProtKB/TrEMBL
  B3KUB6 ENTREZGENE, UniProtKB/TrEMBL
  B7Z653_HUMAN UniProtKB/TrEMBL
  E41L1_HUMAN UniProtKB/Swiss-Prot
  H0Y482_HUMAN UniProtKB/TrEMBL
  H7C2K6_HUMAN UniProtKB/TrEMBL
  L8E750_HUMAN UniProtKB/TrEMBL
  O15046 ENTREZGENE
  Q29RW3_HUMAN UniProtKB/TrEMBL
  Q4VXM6 ENTREZGENE
  Q4VXM7 ENTREZGENE
  Q4VXM8 ENTREZGENE
  Q4VXN0_HUMAN UniProtKB/TrEMBL
  Q4VXN1_HUMAN UniProtKB/TrEMBL
  Q4VXN2_HUMAN UniProtKB/TrEMBL
  Q4VXN4 ENTREZGENE
  Q4VXN5_HUMAN UniProtKB/TrEMBL
  Q4VXN6_HUMAN UniProtKB/TrEMBL
  Q4VXN7_HUMAN UniProtKB/TrEMBL
  Q4VXN8_HUMAN UniProtKB/TrEMBL
  Q6ZT61 ENTREZGENE
  Q8IUU7 ENTREZGENE
  Q96CV5 ENTREZGENE
  Q96L65 ENTREZGENE
  Q9H4G0 ENTREZGENE
  X6RC15_HUMAN UniProtKB/TrEMBL
UniProt Secondary E7EN13 UniProtKB/TrEMBL
  O15046 UniProtKB/Swiss-Prot
  Q4VXM6 UniProtKB/Swiss-Prot
  Q4VXM7 UniProtKB/Swiss-Prot
  Q4VXM8 UniProtKB/Swiss-Prot
  Q4VXN4 UniProtKB/Swiss-Prot
  Q6ZT61 UniProtKB/Swiss-Prot
  Q8IUU7 UniProtKB/Swiss-Prot
  Q96CV5 UniProtKB/Swiss-Prot
  Q96L65 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 EPB41L1  erythrocyte membrane protein band 4.1 like 1    erythrocyte membrane protein band 4.1-like 1  Symbol and/or name change 5135510 APPROVED