TNNT3 (troponin T3, fast skeletal type) - Rat Genome Database

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Gene: TNNT3 (troponin T3, fast skeletal type) Homo sapiens
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Symbol: TNNT3
Name: troponin T3, fast skeletal type
RGD ID: 737137
HGNC Page HGNC:11950
Description: Enables calcium-dependent protein binding activity; troponin C binding activity; and troponin I binding activity. Contributes to actin binding activity and tropomyosin binding activity. Involved in positive regulation of calcium-dependent ATPase activity; regulation of striated muscle contraction; and skeletal muscle contraction. Part of troponin complex. Implicated in distal arthrogryposis type 2B and distal arthrogryposis type 2B2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AMCD2B; arthrogryposis multiplex congenita, distal, type 2B; beta TnTF; beta-TnTF; DA2B; DA2B2; DKFZp779M2348; fast skeletal muscle troponin T; FSSV; fTnT; TNTF; troponin T type 3 (skeletal, fast); troponin T, fast skeletal muscle; troponin t3; troponin-T3, skeletal, fast
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
GRCh38111,919,552 - 1,938,702 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,919,703 - 1,938,706 (+)Ensemblhg38GRCh38
GRCh37111,940,933 - 1,959,932 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,897,445 - 1,916,514 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34111,900,668 - 1,916,510NCBI
Celera1111,177 - 30,313 (+)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef111,709,242 - 1,728,503 (+)NCBIHuRef
CHM1_1111,939,717 - 1,958,858 (+)NCBICHM1_1
T2T-CHM13v2.0111,983,592 - 2,002,746 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (TAS)
troponin complex  (IBA,IDA,IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

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. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Sung SS, etal., Am J Hum Genet. 2003 Jul;73(1):212-4.
Additional References at PubMed
PMID:7118902   PMID:8062920   PMID:8172653   PMID:8681137   PMID:8838323   PMID:8987992   PMID:9012416   PMID:9508073   PMID:9724539   PMID:12477932   PMID:12761854   PMID:14702039  
PMID:15489334   PMID:15507453   PMID:15604093   PMID:15967462   PMID:16081096   PMID:16169070   PMID:16344560   PMID:17194691   PMID:18629027   PMID:19142688   PMID:19326042   PMID:19913121  
PMID:20066428   PMID:20453838   PMID:20628086   PMID:20634891   PMID:21402185   PMID:21873635   PMID:21900206   PMID:23414517   PMID:23936387   PMID:25342443   PMID:25464930   PMID:26186194  
PMID:26774798   PMID:26915936   PMID:28514442   PMID:29596868   PMID:29872149   PMID:30021884   PMID:31741433   PMID:33961781   PMID:34766372  


Genomics

Comparative Map Data
TNNT3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,919,552 - 1,938,702 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,919,703 - 1,938,706 (+)Ensemblhg38GRCh38
GRCh37111,940,933 - 1,959,932 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,897,445 - 1,916,514 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34111,900,668 - 1,916,510NCBI
Celera1111,177 - 30,313 (+)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef111,709,242 - 1,728,503 (+)NCBIHuRef
CHM1_1111,939,717 - 1,958,858 (+)NCBICHM1_1
T2T-CHM13v2.0111,983,592 - 2,002,746 (+)NCBIT2T-CHM13v2.0
Tnnt3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397142,052,530 - 142,069,746 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7142,052,573 - 142,069,746 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm387142,498,771 - 142,516,213 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7142,498,836 - 142,516,009 (+)Ensemblmm10GRCm38
MGSCv377149,684,741 - 149,701,914 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv367142,308,233 - 142,325,393 (+)NCBIMGSCv36mm8
Celera7142,254,685 - 142,271,858 (+)NCBICelera
Cytogenetic Map7F5NCBI
cM Map787.94NCBI
Tnnt3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81207,082,014 - 207,099,014 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1207,081,812 - 207,099,423 (+)EnsemblGRCr8
mRatBN7.21197,652,535 - 197,669,736 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1197,652,431 - 197,669,535 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1206,025,246 - 206,042,256 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01213,111,112 - 213,128,127 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01205,785,265 - 205,802,280 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01215,666,628 - 215,683,628 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1215,666,628 - 215,683,628 (+)Ensemblrn6Rnor6.0
Rnor_5.01222,561,418 - 222,578,418 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41202,748,063 - 202,761,965 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1195,269,899 - 195,286,899 (+)NCBICelera
RGSC_v3.11202,908,518 - 202,917,537 (+)NCBI
Cytogenetic Map1q41NCBI
Tnnt3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542213,702,015 - 13,718,915 (+)Ensembl
ChiLan1.0NW_00495542213,702,015 - 13,718,915 (+)NCBIChiLan1.0ChiLan1.0
TNNT3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v294,328,279 - 4,340,866 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1113,539,861 - 3,552,260 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0111,936,614 - 1,955,784 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1111,968,184 - 1,987,846 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl111,968,184 - 1,987,849 (+)EnsemblpanPan2panpan1.1
TNNT3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11846,131,925 - 46,148,577 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1846,074,700 - 46,149,131 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1844,741,795 - 44,758,468 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01846,812,971 - 46,829,661 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1846,756,047 - 46,829,658 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11846,260,272 - 46,276,949 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01845,840,558 - 45,857,236 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01846,586,814 - 46,603,499 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Tnnt3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049471,551,243 - 1,567,924 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936816805,317 - 822,043 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936816805,360 - 822,044 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TNNT3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl21,299,174 - 1,316,517 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.121,297,826 - 1,316,865 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TNNT3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111,718,729 - 1,738,271 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11,718,523 - 1,738,477 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603898,918,119 - 98,934,360 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tnnt3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476714,787,248 - 14,802,098 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462476714,784,267 - 14,801,477 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in TNNT3
250 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006757.4(TNNT3):c.-18-482G>A single nucleotide variant not provided [RCV000024562] Chr11:1922375 [GRCh38]
Chr11:1943605 [GRCh37]
Chr11:11p15.5		 not provided
NM_006757.4(TNNT3):c.-18-379C>A single nucleotide variant not provided [RCV000024563] Chr11:1922478 [GRCh38]
Chr11:1943708 [GRCh37]
Chr11:11p15.5		 not provided
NM_006757.4(TNNT3):c.18-76A>G single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV001544120]|not provided [RCV000024564] Chr11:1922972 [GRCh38]
Chr11:1944202 [GRCh37]
Chr11:11p15.5		 benign|not provided
NM_006757.4(TNNT3):c.32-149A>T single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV001544250]|not provided [RCV000024565] Chr11:1923406 [GRCh38]
Chr11:1944636 [GRCh37]
Chr11:11p15.5		 benign|not provided
NM_006757.4(TNNT3):c.414G>A (p.Glu138=) single nucleotide variant Arthrogryposis multiplex congenita [RCV000325482]|Arthrogryposis multiplex congenita distal [RCV000296303]|not provided [RCV000024566]|not specified [RCV000118645] Chr11:1934379 [GRCh38]
Chr11:1955609 [GRCh37]
Chr11:11p15.5		 benign|likely benign|not provided
NM_006757.4(TNNT3):c.636T>C (p.Ile212=) single nucleotide variant Arthrogryposis multiplex congenita distal [RCV000310949]|Distal arthrogryposis type 2B1 [RCV000367927]|not provided [RCV000024567]|not specified [RCV000118646] Chr11:1934874 [GRCh38]
Chr11:1956104 [GRCh37]
Chr11:11p15.5		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) single nucleotide variant Arthrogryposis multiplex congenita distal [RCV000373168]|Distal arthrogryposis type 2B1 [RCV000613906]|not provided [RCV000024568]|not specified [RCV000118647] Chr11:1938477 [GRCh38]
Chr11:1959707 [GRCh37]
Chr11:11p15.5		 benign|likely benign|not provided
NM_006757.4(TNNT3):c.328C>T (p.Arg110Cys) single nucleotide variant not provided [RCV000024569]|not specified [RCV000504256] Chr11:1933970 [GRCh38]
Chr11:1955200 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance|not provided
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV000787280]|Arthyrgryposis, distal, type 2B [RCV000194279]|not provided [RCV000024570] Chr11:1933736 [GRCh38]
Chr11:1954966 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|not provided
NM_006757.4(TNNT3):c.188G>A (p.Arg63His) single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV000009468]|Arthyrgryposis, distal, type 2B [RCV000194919]|not provided [RCV000024561] Chr11:1933737 [GRCh38]
Chr11:1954967 [GRCh37]
Chr11:11p15.5		 pathogenic|likely pathogenic|not provided
NM_006757.4(TNNT3):c.187C>A (p.Arg63Ser) single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV001526467] Chr11:1933736 [GRCh38]
Chr11:1954966 [GRCh37]
Chr11:11p15.5		 likely pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1 copy number loss See cases [RCV000052645] Chr11:758848..1998025 [GRCh38]
Chr11:758848..2019255 [GRCh37]
Chr11:748848..1975831 [NCBI36]
Chr11:11p15.5		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:1923685-2003319)x3 copy number gain See cases [RCV000053615] Chr11:1923685..2003319 [GRCh38]
Chr11:1944915..2024549 [GRCh37]
Chr11:1901491..1981125 [NCBI36]
Chr11:11p15.5		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 copy number gain See cases [RCV000136847] Chr11:1537379..3360769 [GRCh38]
Chr11:1558609..3381999 [GRCh37]
Chr11:1515185..3338575 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 copy number loss See cases [RCV000142464] Chr11:1132899..3213923 [GRCh38]
Chr11:1126807..3235153 [GRCh37]
Chr11:1116807..3191729 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 copy number gain See cases [RCV000142923] Chr11:196855..2116185 [GRCh38]
Chr11:196855..2137415 [GRCh37]
Chr11:186855..2093991 [NCBI36]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys) single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV005396841]|not provided [RCV002518523]|not specified [RCV000238964] Chr11:1934905 [GRCh38]
Chr11:1956135 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006757.4(TNNT3):c.681+14C>A single nucleotide variant not specified [RCV000248550] Chr11:1934933 [GRCh38]
Chr11:1956163 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.367-16A>G single nucleotide variant not provided [RCV001610676]|not specified [RCV000241693] Chr11:1934316 [GRCh38]
Chr11:1955546 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.367-9T>C single nucleotide variant Arthrogryposis multiplex congenita [RCV000331506]|Distal arthrogryposis type 2B1 [RCV000388403]|not provided [RCV001576992]|not specified [RCV000246488] Chr11:1934323 [GRCh38]
Chr11:1955553 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_006757.4(TNNT3):c.366+10C>A single nucleotide variant not provided [RCV000901556]|not specified [RCV000251526] Chr11:1934018 [GRCh38]
Chr11:1955248 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_006757.4(TNNT3):c.83-48A>G single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV001544251]|not provided [RCV001696197]|not specified [RCV000253853] Chr11:1929072 [GRCh38]
Chr11:1950302 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.125+50G>C single nucleotide variant not provided [RCV001610675]|not specified [RCV000246774] Chr11:1929878 [GRCh38]
Chr11:1951108 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.82+7C>T single nucleotide variant not provided [RCV000890005]|not specified [RCV000249094] Chr11:1926716 [GRCh38]
Chr11:1947946 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_006757.4(TNNT3):c.723-15G>C single nucleotide variant Arthrogryposis multiplex congenita [RCV000321824]|Arthrogryposis multiplex congenita distal [RCV000264326]|not provided [RCV002058213]|not specified [RCV000251702] Chr11:1938423 [GRCh38]
Chr11:1959653 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_006757.4(TNNT3):c.591-47G>T single nucleotide variant not provided [RCV004705100]|not specified [RCV000251996] Chr11:1934782 [GRCh38]
Chr11:1956012 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.*36C>T single nucleotide variant Arthrogryposis multiplex congenita [RCV000338606]|Distal arthrogryposis type 2B1 [RCV000281179]|not provided [RCV001651196]|not specified [RCV000242788] Chr11:1938528 [GRCh38]
Chr11:1959758 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_006757.3(TNNT3):c.-83G>A single nucleotide variant Arthrogryposis multiplex congenita [RCV000301561]|Arthrogryposis multiplex congenita distal [RCV000392508] Chr11:1919698 [GRCh38]
Chr11:1940928 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.480+9C>T single nucleotide variant Arthrogryposis multiplex congenita [RCV000285416]|Arthrogryposis multiplex congenita distal [RCV000342706]|not provided [RCV000960162] Chr11:1934454 [GRCh38]
Chr11:1955684 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_006757.4(TNNT3):c.690G>A (p.Thr230=) single nucleotide variant Arthrogryposis multiplex congenita [RCV000362568]|Arthrogryposis multiplex congenita distal [RCV000270354]|not provided [RCV002520713] Chr11:1936971 [GRCh38]
Chr11:1958201 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_006757.4(TNNT3):c.759C>T (p.Val253=) single nucleotide variant Arthrogryposis multiplex congenita [RCV000379080]|Arthrogryposis multiplex congenita distal [RCV000286943]|not provided [RCV000883985] Chr11:1938474 [GRCh38]
Chr11:1959704 [GRCh37]
Chr11:11p15.5		 benign|uncertain significance
NM_006757.4(TNNT3):c.68-14C>T single nucleotide variant Arthrogryposis multiplex congenita [RCV000353956]|Arthrogryposis multiplex congenita distal [RCV000306102]|not provided [RCV002056186] Chr11:1926681 [GRCh38]
Chr11:1947911 [GRCh37]
Chr11:11p15.5		 benign|uncertain significance
NM_006757.4(TNNT3):c.722+15C>T single nucleotide variant Arthrogryposis multiplex congenita [RCV000384456]|Arthrogryposis multiplex congenita distal [RCV000327607]|not provided [RCV002056188] Chr11:1937018 [GRCh38]
Chr11:1958248 [GRCh37]
Chr11:11p15.5		 benign|uncertain significance
NM_006757.3(TNNT3):c.-182C>G single nucleotide variant Arthrogryposis multiplex congenita [RCV000346957]|Arthrogryposis multiplex congenita distal [RCV000289620] Chr11:1919599 [GRCh38]
Chr11:1940829 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.417C>T (p.Asp139=) single nucleotide variant Arthrogryposis multiplex congenita [RCV000290644]|Arthrogryposis multiplex congenita distal [RCV000382694]|not provided [RCV002056187] Chr11:1934382 [GRCh38]
Chr11:1955612 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_006757.4(TNNT3):c.107-6G>A single nucleotide variant Arthrogryposis multiplex congenita [RCV000274334]|Arthrogryposis multiplex congenita distal [RCV000357414]|TNNT3-related disorder [RCV003920253]|not provided [RCV000881418] Chr11:1929804 [GRCh38]
Chr11:1951034 [GRCh37]
Chr11:11p15.5		 benign|uncertain significance
NM_006757.4(TNNT3):c.-22G>T single nucleotide variant Arthrogryposis multiplex congenita distal [RCV000404462]|Distal arthrogryposis type 2B1 [RCV000359765] Chr11:1919759 [GRCh38]
Chr11:1940989 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.668G>C (p.Arg223Pro) single nucleotide variant Arthrogryposis multiplex congenita [RCV000314991]|Distal arthrogryposis type 2B1 [RCV000276212] Chr11:1934906 [GRCh38]
Chr11:1956136 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.101C>T (p.Ala34Val) single nucleotide variant Arthrogryposis multiplex congenita [RCV000318809]|Arthrogryposis multiplex congenita distal [RCV000261308]|not provided [RCV002522193] Chr11:1929138 [GRCh38]
Chr11:1950368 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.480+10G>T single nucleotide variant Arthrogryposis multiplex congenita distal [RCV000298429]|Distal arthrogryposis type 2B1 [RCV000392840]|not provided [RCV000950757] Chr11:1934455 [GRCh38]
Chr11:1955685 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_006757.4(TNNT3):c.429G>A (p.Lys143=) single nucleotide variant Arthrogryposis multiplex congenita [RCV000347825]|Arthrogryposis multiplex congenita distal [RCV000399278]|not provided [RCV000943408] Chr11:1934394 [GRCh38]
Chr11:1955624 [GRCh37]
Chr11:11p15.5		 benign|uncertain significance
NM_006757.4(TNNT3):c.*151G>A single nucleotide variant Arthrogryposis multiplex congenita [RCV000307192]|Distal arthrogryposis type 2B1 [RCV000364223] Chr11:1938643 [GRCh38]
Chr11:1959873 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.*86C>T single nucleotide variant Arthrogryposis multiplex congenita [RCV000391778]|Distal arthrogryposis type 2B1 [RCV000351478]|not provided [RCV001653493] Chr11:1938578 [GRCh38]
Chr11:1959808 [GRCh37]
Chr11:11p15.5		 benign|likely benign|uncertain significance
NM_006757.4(TNNT3):c.515G>A (p.Arg172Gln) single nucleotide variant Arthrogryposis multiplex congenita [RCV000406375]|Arthrogryposis multiplex congenita distal [RCV000355644]|Inborn genetic diseases [RCV002520712]|not provided [RCV002520711] Chr11:1934580 [GRCh38]
Chr11:1955810 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.681+63T>C single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV001544254]|not provided [RCV001673176] Chr11:1934982 [GRCh38]
Chr11:1956212 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.3(TNNT3):c.-177dup duplication Arthrogryposis multiplex congenita [RCV000392505]|Arthrogryposis multiplex congenita distal [RCV000352685] Chr11:1919596..1919597 [GRCh38]
Chr11:1940826..1940827 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.*62G>T single nucleotide variant Arthrogryposis multiplex congenita distal [RCV000312907]|Distal arthrogryposis type 2B1 [RCV000391788] Chr11:1938554 [GRCh38]
Chr11:1959784 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.481-1G>A single nucleotide variant Inborn genetic diseases [RCV000622802]|not provided [RCV001855310] Chr11:1934545 [GRCh38]
Chr11:1955775 [GRCh37]
Chr11:11p15.5		 likely pathogenic|uncertain significance
NM_006757.4(TNNT3):c.695G>A (p.Arg232Lys) single nucleotide variant not specified [RCV000414659] Chr11:1936976 [GRCh38]
Chr11:1958206 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_006757.4(TNNT3):c.354G>A (p.Gln118=) single nucleotide variant not specified [RCV000502184] Chr11:1933996 [GRCh38]
Chr11:1955226 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.524AGA[2] (p.Lys177del) microsatellite Arthrogryposis, distal, type 2B2 [RCV001262955]|TNNT3-related disorder [RCV003424045]|not provided [RCV000493676] Chr11:1934587..1934589 [GRCh38]
Chr11:1955817..1955819 [GRCh37]
Chr11:11p15.5		 pathogenic|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.5(chr11:1690968-2277648)x3 copy number gain See cases [RCV000512345] Chr11:1690968..2277648 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_006757.4(TNNT3):c.49+105G>A single nucleotide variant not provided [RCV001574717] Chr11:1923677 [GRCh38]
Chr11:1944907 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_006757.4(TNNT3):c.106+274G>A single nucleotide variant not provided [RCV001679197] Chr11:1929417 [GRCh38]
Chr11:1950647 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.172-159A>C single nucleotide variant not provided [RCV001534975] Chr11:1933562 [GRCh38]
Chr11:1954792 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.107-134T>G single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV001544252]|not provided [RCV001638153] Chr11:1929676 [GRCh38]
Chr11:1950906 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.350G>A (p.Arg117His) single nucleotide variant not provided [RCV000761753] Chr11:1933992 [GRCh38]
Chr11:1955222 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.116C>T (p.Pro39Leu) single nucleotide variant Inborn genetic diseases [RCV003244101] Chr11:1929819 [GRCh38]
Chr11:1951049 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.107-115T>C single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV001544253]|not provided [RCV001685491] Chr11:1929695 [GRCh38]
Chr11:1950925 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.363G>A (p.Leu121=) single nucleotide variant not provided [RCV000925558] Chr11:1934005 [GRCh38]
Chr11:1955235 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.125+26_125+84del deletion not provided [RCV000973248] Chr11:1929826..1929884 [GRCh38]
Chr11:1951056..1951114 [GRCh37]
Chr11:11p15.5		 benign
R63C variation Arthrogryposis, distal, type 2B2 [RCV000778062] Chr11:11p15.5 pathogenic
NM_006757.4(TNNT3):c.698G>A (p.Ser233Asn) single nucleotide variant TNNT3-related disorder [RCV003933110]|not provided [RCV000922500] Chr11:1936979 [GRCh38]
Chr11:1958209 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_006757.4(TNNT3):c.561C>T (p.Asn187=) single nucleotide variant not provided [RCV000977340] Chr11:1934626 [GRCh38]
Chr11:1955856 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.99C>T (p.Asp33=) single nucleotide variant not provided [RCV000896429] Chr11:1929136 [GRCh38]
Chr11:1950366 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.681+193G>T single nucleotide variant not provided [RCV001643345] Chr11:1935112 [GRCh38]
Chr11:1956342 [GRCh37]
Chr11:11p15.5		 benign
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_006757.4(TNNT3):c.*57C>T single nucleotide variant Distal arthrogryposis type 2B1 [RCV001108124] Chr11:1938549 [GRCh38]
Chr11:1959779 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.366+86C>T single nucleotide variant not provided [RCV001582199] Chr11:1934094 [GRCh38]
Chr11:1955324 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.9:g.(?_1774733)_(2019125_?)dup duplication Neuronal ceroid lipofuscinosis [RCV003107551] Chr11:1774733..2019125 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.68-500C>G single nucleotide variant not provided [RCV001599076] Chr11:1926195 [GRCh38]
Chr11:1947425 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.67+184T>G single nucleotide variant not provided [RCV001637787] Chr11:1925300 [GRCh38]
Chr11:1946530 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.106+163G>T single nucleotide variant not provided [RCV001608635] Chr11:1929306 [GRCh38]
Chr11:1950536 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.68-132C>T single nucleotide variant not provided [RCV001636366] Chr11:1926563 [GRCh38]
Chr11:1947793 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.49+52C>A single nucleotide variant not provided [RCV001561667] Chr11:1923624 [GRCh38]
Chr11:1944854 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.106+218T>C single nucleotide variant not provided [RCV001652323] Chr11:1929361 [GRCh38]
Chr11:1950591 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.107-117G>A single nucleotide variant not provided [RCV001676689] Chr11:1929693 [GRCh38]
Chr11:1950923 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.723-140G>A single nucleotide variant not provided [RCV001592634] Chr11:1938298 [GRCh38]
Chr11:1959528 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.68-7T>C single nucleotide variant not provided [RCV000921567] Chr11:1926688 [GRCh38]
Chr11:1947918 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.384G>A (p.Arg128=) single nucleotide variant not provided [RCV000929821] Chr11:1934349 [GRCh38]
Chr11:1955579 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.635T>C (p.Ile212Thr) single nucleotide variant Inborn genetic diseases [RCV004030178]|not provided [RCV000994541] Chr11:1934873 [GRCh38]
Chr11:1956103 [GRCh37]
Chr11:11p15.5		 likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_006757.4(TNNT3):c.682-399G>A single nucleotide variant not provided [RCV001621445] Chr11:1936564 [GRCh38]
Chr11:1957794 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.83-283_83-282del deletion not provided [RCV001659399] Chr11:1928833..1928834 [GRCh38]
Chr11:1950063..1950064 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.682-947C>T single nucleotide variant not provided [RCV001687655] Chr11:1936016 [GRCh38]
Chr11:1957246 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.681+189G>C single nucleotide variant not provided [RCV001656235] Chr11:1935108 [GRCh38]
Chr11:1956338 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.106+215A>G single nucleotide variant not provided [RCV001688264] Chr11:1929358 [GRCh38]
Chr11:1950588 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.126-236C>T single nucleotide variant not provided [RCV001580827] Chr11:1932233 [GRCh38]
Chr11:1953463 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.68-125C>G single nucleotide variant not provided [RCV001676498] Chr11:1926570 [GRCh38]
Chr11:1947800 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.83-313G>A single nucleotide variant not provided [RCV001686734] Chr11:1928807 [GRCh38]
Chr11:1950037 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.67+40C>T single nucleotide variant not provided [RCV001593745] Chr11:1925156 [GRCh38]
Chr11:1946386 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.682-312G>A single nucleotide variant not provided [RCV001687333] Chr11:1936651 [GRCh38]
Chr11:1957881 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.504G>A (p.Lys168=) single nucleotide variant Distal arthrogryposis type 2B1 [RCV001104720]|not provided [RCV003769093] Chr11:1934569 [GRCh38]
Chr11:1955799 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_006757.4(TNNT3):c.591-12C>T single nucleotide variant Distal arthrogryposis type 2B1 [RCV001104721]|not provided [RCV002069731] Chr11:1934817 [GRCh38]
Chr11:1956047 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_006757.4(TNNT3):c.491A>G (p.Lys164Arg) single nucleotide variant Distal arthrogryposis type 2B1 [RCV001102796] Chr11:1934556 [GRCh38]
Chr11:1955786 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.68-136G>A single nucleotide variant not provided [RCV001693924] Chr11:1926559 [GRCh38]
Chr11:1947789 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.-18-36CT[11] microsatellite not provided [RCV001650159] Chr11:1922820..1922821 [GRCh38]
Chr11:1944050..1944051 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.68-350C>A single nucleotide variant not provided [RCV001707886] Chr11:1926345 [GRCh38]
Chr11:1947575 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.682-92C>T single nucleotide variant not provided [RCV001646055] Chr11:1936871 [GRCh38]
Chr11:1958101 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.682-403T>C single nucleotide variant not provided [RCV001684691] Chr11:1936560 [GRCh38]
Chr11:1957790 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.68-247G>A single nucleotide variant not provided [RCV001691516] Chr11:1926448 [GRCh38]
Chr11:1947678 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.481-5T>C single nucleotide variant TNNT3-related disorder [RCV003941098]|not provided [RCV001709904] Chr11:1934541 [GRCh38]
Chr11:1955771 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_006757.4(TNNT3):c.681+216G>A single nucleotide variant not provided [RCV001645475] Chr11:1935135 [GRCh38]
Chr11:1956365 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.82+247T>C single nucleotide variant not provided [RCV001613746] Chr11:1926956 [GRCh38]
Chr11:1948186 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.-18-218C>T single nucleotide variant not provided [RCV001651698] Chr11:1922639 [GRCh38]
Chr11:1943869 [GRCh37]
Chr11:11p15.5		 benign
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.257A>G (p.Glu86Gly) single nucleotide variant Distal arthrogryposis type 2B1 [RCV001108018] Chr11:1933806 [GRCh38]
Chr11:1955036 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.496G>A (p.Gly166Ser) single nucleotide variant Distal arthrogryposis type 2B1 [RCV001104719] Chr11:1934561 [GRCh38]
Chr11:1955791 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3 copy number gain not provided [RCV001259591] Chr11:1436158..2321134 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_006757.4(TNNT3):c.67+128G>A single nucleotide variant Congenital myopathy [RCV005209686] Chr11:1925244 [GRCh38]
Chr11:1946474 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_006757.4(TNNT3):c.464G>A (p.Ser155Asn) single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV001329618] Chr11:1934429 [GRCh38]
Chr11:1955659 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.757G>C (p.Val253Leu) single nucleotide variant Distal arthrogryposis type 2B1 [RCV001329620] Chr11:1938472 [GRCh38]
Chr11:1959702 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV001301561]|Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_006757.4(TNNT3):c.723-2A>G single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV001329619] Chr11:1938436 [GRCh38]
Chr11:1959666 [GRCh37]
Chr11:11p15.5		 pathogenic
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Developmental and epileptic encephalopathy [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_006757.4(TNNT3):c.480+8C>T single nucleotide variant Distal arthrogryposis type 2B1 [RCV001337000] Chr11:1934453 [GRCh38]
Chr11:1955683 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.50-110C>T single nucleotide variant not provided [RCV001707195] Chr11:1924989 [GRCh38]
Chr11:1946219 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.366+139C>A single nucleotide variant not provided [RCV001611857] Chr11:1934147 [GRCh38]
Chr11:1955377 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.49+272C>G single nucleotide variant not provided [RCV001694350] Chr11:1923844 [GRCh38]
Chr11:1945074 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.125+56T>C single nucleotide variant not provided [RCV001538586] Chr11:1929884 [GRCh38]
Chr11:1951114 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.50-237C>T single nucleotide variant not provided [RCV001536490] Chr11:1924862 [GRCh38]
Chr11:1946092 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.50-9G>A single nucleotide variant not provided [RCV003094005]|not specified [RCV002248907] Chr11:1925090 [GRCh38]
Chr11:1946320 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.176T>C (p.Ile59Thr) single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV001728051] Chr11:1933725 [GRCh38]
Chr11:1954955 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.682-677C>T single nucleotide variant not provided [RCV001776650] Chr11:1936286 [GRCh38]
Chr11:1957516 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.643T>C (p.Phe215Leu) single nucleotide variant not provided [RCV002043840] Chr11:1934881 [GRCh38]
Chr11:1956111 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4		 not provided
NM_006757.4(TNNT3):c.160G>A (p.Val54Met) single nucleotide variant not provided [RCV001894877] Chr11:1932503 [GRCh38]
Chr11:1953733 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.391G>A (p.Glu131Lys) single nucleotide variant not provided [RCV001983118] Chr11:1934356 [GRCh38]
Chr11:1955586 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.365C>A (p.Ala122Glu) single nucleotide variant not provided [RCV002004073] Chr11:1934007 [GRCh38]
Chr11:1955237 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.82+4C>T single nucleotide variant not provided [RCV001945667] Chr11:1926713 [GRCh38]
Chr11:1947943 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.13G>A (p.Glu5Lys) single nucleotide variant not provided [RCV001890948] Chr11:1922887 [GRCh38]
Chr11:1944117 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.533T>C (p.Ile178Thr) single nucleotide variant Inborn genetic diseases [RCV003289218]|not provided [RCV001909732] Chr11:1934598 [GRCh38]
Chr11:1955828 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.34C>A (p.Gln12Lys) single nucleotide variant not provided [RCV001912894] Chr11:1923557 [GRCh38]
Chr11:1944787 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.565G>T (p.Asp189Tyr) single nucleotide variant not provided [RCV001891381] Chr11:1934630 [GRCh38]
Chr11:1955860 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:1719815-2321109)x3 copy number gain not provided [RCV001827983] Chr11:1719815..2321109 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_006757.4(TNNT3):c.760G>A (p.Gly254Ser) single nucleotide variant not provided [RCV001905591] Chr11:1938475 [GRCh38]
Chr11:1959705 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.712G>A (p.Ala238Thr) single nucleotide variant not provided [RCV001930959] Chr11:1936993 [GRCh38]
Chr11:1958223 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.592G>C (p.Asp198His) single nucleotide variant not provided [RCV001887282] Chr11:1934830 [GRCh38]
Chr11:1956060 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.418G>A (p.Asp140Asn) single nucleotide variant Inborn genetic diseases [RCV002642136]|not provided [RCV002017422] Chr11:1934383 [GRCh38]
Chr11:1955613 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.682-3C>T single nucleotide variant not provided [RCV001943656] Chr11:1936960 [GRCh38]
Chr11:1958190 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.722+3G>A single nucleotide variant TNNT3-related disorder [RCV003911102]|not provided [RCV001943694] Chr11:1937006 [GRCh38]
Chr11:1958236 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_006757.4(TNNT3):c.763G>A (p.Gly255Arg) single nucleotide variant not provided [RCV001955559] Chr11:1938478 [GRCh38]
Chr11:1959708 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.691C>T (p.Leu231Phe) single nucleotide variant Inborn genetic diseases [RCV004039012]|not provided [RCV001876412] Chr11:1936972 [GRCh38]
Chr11:1958202 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.41_43AAG[2] (p.Glu18del) microsatellite not provided [RCV001990181] Chr11:1923563..1923565 [GRCh38]
Chr11:1944793..1944795 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.332C>T (p.Ala111Val) single nucleotide variant not provided [RCV001993905] Chr11:1933974 [GRCh38]
Chr11:1955204 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.83-6T>A single nucleotide variant not provided [RCV001886407] Chr11:1929114 [GRCh38]
Chr11:1950344 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.82+10C>T single nucleotide variant not provided [RCV001997282] Chr11:1926719 [GRCh38]
Chr11:1947949 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_006757.4(TNNT3):c.574G>T (p.Gly192Cys) single nucleotide variant not provided [RCV002034292] Chr11:1934639 [GRCh38]
Chr11:1955869 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.349C>T (p.Arg117Cys) single nucleotide variant Inborn genetic diseases [RCV004970514]|not provided [RCV001923468] Chr11:1933991 [GRCh38]
Chr11:1955221 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.349C>A (p.Arg117Ser) single nucleotide variant Inborn genetic diseases [RCV004681267]|not provided [RCV001931849] Chr11:1933991 [GRCh38]
Chr11:1955221 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.722+16G>A single nucleotide variant not provided [RCV002186624] Chr11:1937019 [GRCh38]
Chr11:1958249 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.82+19G>T single nucleotide variant not provided [RCV002169047] Chr11:1926728 [GRCh38]
Chr11:1947958 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.82+12C>A single nucleotide variant not provided [RCV002164941] Chr11:1926721 [GRCh38]
Chr11:1947951 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.126-11C>G single nucleotide variant not provided [RCV002073491] Chr11:1932458 [GRCh38]
Chr11:1953688 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.288+19del deletion not provided [RCV002114786] Chr11:1933855 [GRCh38]
Chr11:1955085 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.67+12C>T single nucleotide variant not provided [RCV002213650] Chr11:1925128 [GRCh38]
Chr11:1946358 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.537G>T (p.Leu179=) single nucleotide variant not provided [RCV002078765] Chr11:1934602 [GRCh38]
Chr11:1955832 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.49+17C>T single nucleotide variant not provided [RCV002133147] Chr11:1923589 [GRCh38]
Chr11:1944819 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.87C>T (p.Thr29=) single nucleotide variant not provided [RCV002105730] Chr11:1929124 [GRCh38]
Chr11:1950354 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.106+9C>T single nucleotide variant not provided [RCV002152758] Chr11:1929152 [GRCh38]
Chr11:1950382 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.68-16G>T single nucleotide variant not provided [RCV002192938] Chr11:1926679 [GRCh38]
Chr11:1947909 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.722+15C>A single nucleotide variant not provided [RCV002116618] Chr11:1937018 [GRCh38]
Chr11:1958248 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.564C>A (p.Ile188=) single nucleotide variant not provided [RCV002134006] Chr11:1934629 [GRCh38]
Chr11:1955859 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.289-20A>T single nucleotide variant not provided [RCV002174572] Chr11:1933911 [GRCh38]
Chr11:1955141 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.106+12T>A single nucleotide variant not provided [RCV002090414] Chr11:1929155 [GRCh38]
Chr11:1950385 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.366+15C>T single nucleotide variant not provided [RCV002178314] Chr11:1934023 [GRCh38]
Chr11:1955253 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.329G>A (p.Arg110His) single nucleotide variant not provided [RCV002218288] Chr11:1933971 [GRCh38]
Chr11:1955201 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.50-10C>T single nucleotide variant TNNT3-related disorder [RCV003971106]|not provided [RCV002154049] Chr11:1925089 [GRCh38]
Chr11:1946319 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.682-14C>T single nucleotide variant not provided [RCV002154060] Chr11:1936949 [GRCh38]
Chr11:1958179 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.18-8C>A single nucleotide variant not provided [RCV002162079] Chr11:1923040 [GRCh38]
Chr11:1944270 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.564C>T (p.Ile188=) single nucleotide variant not provided [RCV002184173] Chr11:1934629 [GRCh38]
Chr11:1955859 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.225C>T (p.Ile75=) single nucleotide variant not provided [RCV002122834] Chr11:1933774 [GRCh38]
Chr11:1955004 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.367-17G>A single nucleotide variant not provided [RCV002161818] Chr11:1934315 [GRCh38]
Chr11:1955545 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.642G>A (p.Lys214=) single nucleotide variant not provided [RCV002162384] Chr11:1934880 [GRCh38]
Chr11:1956110 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.82+8G>A single nucleotide variant not provided [RCV002198519] Chr11:1926717 [GRCh38]
Chr11:1947947 [GRCh37]
Chr11:11p15.5		 likely benign
NC_000011.9:g.(?_1278740)_(2906719_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV003113999] Chr11:1278740..2906719 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NC_000011.9:g.(?_721044)_(3988932_?)dup duplication not provided [RCV003113442] Chr11:721044..3988932 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_006757.4(TNNT3):c.69G>A (p.Glu23=) single nucleotide variant not provided [RCV004778757] Chr11:1926696 [GRCh38]
Chr11:1947926 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
GRCh37/hg19 11p15.5(chr11:1621232-2228572) copy number gain Beckwith-Wiedemann syndrome [RCV002280763] Chr11:1621232..2228572 [GRCh37]
Chr11:11p15.5		 pathogenic
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 copy number gain not provided [RCV002473945] Chr11:461373..2157956 [GRCh37]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_006757.4(TNNT3):c.18-1G>T single nucleotide variant not provided [RCV002881467] Chr11:1923047 [GRCh38]
Chr11:1944277 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.175A>T (p.Ile59Phe) single nucleotide variant not provided [RCV002461783] Chr11:1933724 [GRCh38]
Chr11:1954954 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.722+5G>A single nucleotide variant not provided [RCV002995286] Chr11:1937008 [GRCh38]
Chr11:1958238 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.312G>A (p.Ala104=) single nucleotide variant not provided [RCV003075076] Chr11:1933954 [GRCh38]
Chr11:1955184 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.206T>C (p.Met69Thr) single nucleotide variant not provided [RCV002908212] Chr11:1933755 [GRCh38]
Chr11:1954985 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.246G>A (p.Arg82=) single nucleotide variant not provided [RCV002996236] Chr11:1933795 [GRCh38]
Chr11:1955025 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.591-15C>T single nucleotide variant not provided [RCV002616988] Chr11:1934814 [GRCh38]
Chr11:1956044 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.218C>A (p.Ala73Asp) single nucleotide variant not provided [RCV002863774] Chr11:1933767 [GRCh38]
Chr11:1954997 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.39C>T (p.Tyr13=) single nucleotide variant not provided [RCV003100448] Chr11:1923562 [GRCh38]
Chr11:1944792 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.337_339del (p.Lys113del) deletion not provided [RCV002636406] Chr11:1933977..1933979 [GRCh38]
Chr11:1955207..1955209 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.295C>T (p.Arg99Cys) single nucleotide variant not provided [RCV002690833] Chr11:1933937 [GRCh38]
Chr11:1955167 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.271G>A (p.Ala91Thr) single nucleotide variant Inborn genetic diseases [RCV004965970]|not provided [RCV002621433] Chr11:1933820 [GRCh38]
Chr11:1955050 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.481-2A>G single nucleotide variant not provided [RCV002638667] Chr11:1934544 [GRCh38]
Chr11:1955774 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.481-8C>T single nucleotide variant not provided [RCV003100429] Chr11:1934538 [GRCh38]
Chr11:1955768 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.335A>T (p.Glu112Val) single nucleotide variant Inborn genetic diseases [RCV002844803] Chr11:1933977 [GRCh38]
Chr11:1955207 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.617C>T (p.Thr206Ile) single nucleotide variant not provided [RCV002627182] Chr11:1934855 [GRCh38]
Chr11:1956085 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.341A>G (p.Glu114Gly) single nucleotide variant Inborn genetic diseases [RCV002873983] Chr11:1933983 [GRCh38]
Chr11:1955213 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.590+12G>A single nucleotide variant not provided [RCV002573167] Chr11:1934667 [GRCh38]
Chr11:1955897 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.8A>T (p.Asp3Val) single nucleotide variant not provided [RCV002643730] Chr11:1922882 [GRCh38]
Chr11:1944112 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.723-15G>A single nucleotide variant not provided [RCV002701500] Chr11:1938423 [GRCh38]
Chr11:1959653 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.682-13A>T single nucleotide variant not provided [RCV002852754] Chr11:1936950 [GRCh38]
Chr11:1958180 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.67+13C>T single nucleotide variant not provided [RCV002643067] Chr11:1925129 [GRCh38]
Chr11:1946359 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.106+17G>A single nucleotide variant not provided [RCV002740976] Chr11:1929160 [GRCh38]
Chr11:1950390 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.547C>T (p.Arg183Cys) single nucleotide variant Inborn genetic diseases [RCV002940234]|not provided [RCV003546915] Chr11:1934612 [GRCh38]
Chr11:1955842 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.226G>A (p.Asp76Asn) single nucleotide variant not provided [RCV002770328] Chr11:1933775 [GRCh38]
Chr11:1955005 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.718A>G (p.Lys240Glu) single nucleotide variant not provided [RCV003045740] Chr11:1936999 [GRCh38]
Chr11:1958229 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.107-20G>A single nucleotide variant not provided [RCV002598201] Chr11:1929790 [GRCh38]
Chr11:1951020 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.267G>T (p.Leu89=) single nucleotide variant not provided [RCV002856788] Chr11:1933816 [GRCh38]
Chr11:1955046 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.434A>C (p.Lys145Thr) single nucleotide variant not provided [RCV002810904] Chr11:1934399 [GRCh38]
Chr11:1955629 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.171+14A>G single nucleotide variant not provided [RCV002580459] Chr11:1932528 [GRCh38]
Chr11:1953758 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.253G>A (p.Glu85Lys) single nucleotide variant not provided [RCV003047450] Chr11:1933802 [GRCh38]
Chr11:1955032 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.31+15C>G single nucleotide variant not provided [RCV002834692] Chr11:1923076 [GRCh38]
Chr11:1944306 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.704T>C (p.Ile235Thr) single nucleotide variant not provided [RCV003026639] Chr11:1936985 [GRCh38]
Chr11:1958215 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.288+1G>A single nucleotide variant not provided [RCV002650485] Chr11:1933838 [GRCh38]
Chr11:1955068 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.700C>T (p.Arg234Cys) single nucleotide variant Inborn genetic diseases [RCV004966022]|not provided [RCV002675676] Chr11:1936981 [GRCh38]
Chr11:1958211 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.302C>A (p.Ala101Glu) single nucleotide variant not provided [RCV002651181] Chr11:1933944 [GRCh38]
Chr11:1955174 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.82+16C>T single nucleotide variant not provided [RCV002585941] Chr11:1926725 [GRCh38]
Chr11:1947955 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.126-20C>T single nucleotide variant not provided [RCV002608796] Chr11:1932449 [GRCh38]
Chr11:1953679 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.68-2A>G single nucleotide variant not provided [RCV002608988] Chr11:1926693 [GRCh38]
Chr11:1947923 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.668G>A (p.Arg223His) single nucleotide variant Inborn genetic diseases [RCV005281213]|not provided [RCV002654438] Chr11:1934906 [GRCh38]
Chr11:1956136 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.225C>G (p.Ile75Met) single nucleotide variant not provided [RCV002653425] Chr11:1933774 [GRCh38]
Chr11:1955004 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.125+9G>A single nucleotide variant not provided [RCV002587200] Chr11:1929837 [GRCh38]
Chr11:1951067 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.39C>A (p.Tyr13Ter) single nucleotide variant not provided [RCV002681004] Chr11:1923562 [GRCh38]
Chr11:1944792 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.505C>G (p.Gln169Glu) single nucleotide variant Inborn genetic diseases [RCV004965934]|not provided [RCV002587486] Chr11:1934570 [GRCh38]
Chr11:1955800 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.82+11G>A single nucleotide variant not provided [RCV002587525] Chr11:1926720 [GRCh38]
Chr11:1947950 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.394G>T (p.Asp132Tyr) single nucleotide variant Inborn genetic diseases [RCV003219756] Chr11:1934359 [GRCh38]
Chr11:1955589 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.277A>C (p.Lys93Gln) single nucleotide variant not provided [RCV003228466] Chr11:1933826 [GRCh38]
Chr11:1955056 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.82+5G>A single nucleotide variant not provided [RCV003875790] Chr11:1926714 [GRCh38]
Chr11:1947944 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 copy number gain not provided [RCV003484828] Chr11:192764..3362853 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_006757.4(TNNT3):c.508A>G (p.Thr170Ala) single nucleotide variant TNNT3-related disorder [RCV003427790] Chr11:1934573 [GRCh38]
Chr11:1955803 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_006757.4(TNNT3):c.32-3C>T single nucleotide variant not provided [RCV003660092] Chr11:1923552 [GRCh38]
Chr11:1944782 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.745G>A (p.Ala249Thr) single nucleotide variant not provided [RCV003831689] Chr11:1938460 [GRCh38]
Chr11:1959690 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.681+7C>A single nucleotide variant not provided [RCV003691273] Chr11:1934926 [GRCh38]
Chr11:1956156 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.554C>T (p.Pro185Leu) single nucleotide variant not provided [RCV003831669] Chr11:1934619 [GRCh38]
Chr11:1955849 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.552G>A (p.Lys184=) single nucleotide variant not provided [RCV003694376] Chr11:1934617 [GRCh38]
Chr11:1955847 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.106+20G>A single nucleotide variant not provided [RCV003882174] Chr11:1929163 [GRCh38]
Chr11:1950393 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.82+4C>A single nucleotide variant not provided [RCV003739038] Chr11:1926713 [GRCh38]
Chr11:1947943 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.126-13G>A single nucleotide variant not provided [RCV003715077] Chr11:1932456 [GRCh38]
Chr11:1953686 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.228C>T (p.Asp76=) single nucleotide variant not provided [RCV003573220] Chr11:1933777 [GRCh38]
Chr11:1955007 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.11A>T (p.Glu4Val) single nucleotide variant not provided [RCV003716876] Chr11:1922885 [GRCh38]
Chr11:1944115 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.249G>A (p.Lys83=) single nucleotide variant not provided [RCV003835685] Chr11:1933798 [GRCh38]
Chr11:1955028 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.481-7G>A single nucleotide variant not provided [RCV003659344] Chr11:1934539 [GRCh38]
Chr11:1955769 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.49+19G>A single nucleotide variant not provided [RCV003856825] Chr11:1923591 [GRCh38]
Chr11:1944821 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.126-8C>G single nucleotide variant not provided [RCV003836072] Chr11:1932461 [GRCh38]
Chr11:1953691 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.100G>A (p.Ala34Thr) single nucleotide variant not provided [RCV003815921] Chr11:1929137 [GRCh38]
Chr11:1950367 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.336G>A (p.Glu112=) single nucleotide variant not provided [RCV003856435] Chr11:1933978 [GRCh38]
Chr11:1955208 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.722+15C>G single nucleotide variant not provided [RCV003839542] Chr11:1937018 [GRCh38]
Chr11:1958248 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.288+20T>C single nucleotide variant not provided [RCV003665174] Chr11:1933857 [GRCh38]
Chr11:1955087 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.702C>A (p.Arg234=) single nucleotide variant not provided [RCV003668046] Chr11:1936983 [GRCh38]
Chr11:1958213 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.496G>C (p.Gly166Arg) single nucleotide variant not provided [RCV003816158] Chr11:1934561 [GRCh38]
Chr11:1955791 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.309_310del (p.Arg103fs) microsatellite not provided [RCV003670686] Chr11:1933945..1933946 [GRCh38]
Chr11:1955175..1955176 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.83-20T>C single nucleotide variant not provided [RCV003818798] Chr11:1929100 [GRCh38]
Chr11:1950330 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.41A>G (p.Glu14Gly) single nucleotide variant not provided [RCV003706894] Chr11:1923564 [GRCh38]
Chr11:1944794 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.82+16C>A single nucleotide variant not provided [RCV003857934] Chr11:1926725 [GRCh38]
Chr11:1947955 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.106+8C>T single nucleotide variant not provided [RCV003720390] Chr11:1929151 [GRCh38]
Chr11:1950381 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.268G>A (p.Val90Ile) single nucleotide variant not provided [RCV003869709] Chr11:1933817 [GRCh38]
Chr11:1955047 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.681+1G>A single nucleotide variant not provided [RCV003734624] Chr11:1934920 [GRCh38]
Chr11:1956150 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.32-11_32-10delinsAA indel not provided [RCV003706893] Chr11:1923544..1923545 [GRCh38]
Chr11:1944774..1944775 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.288C>T (p.Ile96=) single nucleotide variant not provided [RCV003841357] Chr11:1933837 [GRCh38]
Chr11:1955067 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.49+18C>T single nucleotide variant not provided [RCV003821285] Chr11:1923590 [GRCh38]
Chr11:1944820 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.682-2A>G single nucleotide variant not provided [RCV003676622] Chr11:1936961 [GRCh38]
Chr11:1958191 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.590+15T>C single nucleotide variant not provided [RCV003860226] Chr11:1934670 [GRCh38]
Chr11:1955900 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.299G>A (p.Arg100His) single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV003984987] Chr11:1933941 [GRCh38]
Chr11:1955171 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.682-717G>C single nucleotide variant TNNT3-related disorder [RCV003966896] Chr11:1936246 [GRCh38]
Chr11:1957476 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.67+130C>T single nucleotide variant TNNT3-related disorder [RCV003952110] Chr11:1925246 [GRCh38]
Chr11:1946476 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.37T>C (p.Tyr13His) single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV004547302] Chr11:1923560 [GRCh38]
Chr11:1944790 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_216698)_(2906719_?)dup duplication Beckwith-Wiedemann syndrome [RCV004580105] Chr11:216698..2906719 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NM_006757.4(TNNT3):c.466A>G (p.Ser156Gly) single nucleotide variant TNNT3-related disorder [RCV004755607] Chr11:1934431 [GRCh38]
Chr11:1955661 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.308G>C (p.Arg103Thr) single nucleotide variant Inborn genetic diseases [RCV004967032] Chr11:1933950 [GRCh38]
Chr11:1955180 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.185A>T (p.Lys62Met) single nucleotide variant not provided [RCV005135558] Chr11:1933734 [GRCh38]
Chr11:1954964 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.461A>G (p.Tyr154Cys) single nucleotide variant not provided [RCV005140102] Chr11:1934426 [GRCh38]
Chr11:1955656 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.722+16G>T single nucleotide variant not provided [RCV005141285] Chr11:1937019 [GRCh38]
Chr11:1958249 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.509C>T (p.Thr170Ile) single nucleotide variant not provided [RCV005121825] Chr11:1934574 [GRCh38]
Chr11:1955804 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.289-9T>C single nucleotide variant not provided [RCV005138187] Chr11:1933922 [GRCh38]
Chr11:1955152 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.82+18C>T single nucleotide variant not provided [RCV005067809] Chr11:1926727 [GRCh38]
Chr11:1947957 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.107-16G>C single nucleotide variant not provided [RCV005067544] Chr11:1929794 [GRCh38]
Chr11:1951024 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.125+26_125+84dup duplication not provided [RCV005118259] Chr11:1929825..1929826 [GRCh38]
Chr11:1951055..1951056 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.365C>T (p.Ala122Val) single nucleotide variant not provided [RCV005113503] Chr11:1934007 [GRCh38]
Chr11:1955237 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.288+2T>C single nucleotide variant not provided [RCV005063661] Chr11:1933839 [GRCh38]
Chr11:1955069 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.199G>T (p.Asp67Tyr) single nucleotide variant not provided [RCV005114905] Chr11:1933748 [GRCh38]
Chr11:1954978 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.40G>C (p.Glu14Gln) single nucleotide variant not provided [RCV005086926] Chr11:1923563 [GRCh38]
Chr11:1944793 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.481-19T>C single nucleotide variant not provided [RCV005088050] Chr11:1934527 [GRCh38]
Chr11:1955757 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.645C>T (p.Phe215=) single nucleotide variant not provided [RCV005064332] Chr11:1934883 [GRCh38]
Chr11:1956113 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.701G>T (p.Arg234Leu) single nucleotide variant not provided [RCV005054960] Chr11:1936982 [GRCh38]
Chr11:1958212 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.723-8A>T single nucleotide variant not provided [RCV005070820] Chr11:1938430 [GRCh38]
Chr11:1959660 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.590+3G>A single nucleotide variant not provided [RCV005205198] Chr11:1934658 [GRCh38]
Chr11:1955888 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.34C>G (p.Gln12Glu) single nucleotide variant not provided [RCV005198728] Chr11:1923557 [GRCh38]
Chr11:1944787 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.646G>A (p.Glu216Lys) single nucleotide variant not provided [RCV005187134] Chr11:1934884 [GRCh38]
Chr11:1956114 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.72A>C (p.Glu24Asp) single nucleotide variant not provided [RCV005189196] Chr11:1926699 [GRCh38]
Chr11:1947929 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.462C>T (p.Tyr154=) single nucleotide variant not provided [RCV005079731] Chr11:1934427 [GRCh38]
Chr11:1955657 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.548G>A (p.Arg183His) single nucleotide variant Inborn genetic diseases [RCV005291211]|not provided [RCV005186558] Chr11:1934613 [GRCh38]
Chr11:1955843 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.302C>T (p.Ala101Val) single nucleotide variant not provided [RCV005080164] Chr11:1933944 [GRCh38]
Chr11:1955174 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.351C>T (p.Arg117=) single nucleotide variant not provided [RCV005069659] Chr11:1933993 [GRCh38]
Chr11:1955223 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.117G>A (p.Pro39=) single nucleotide variant not provided [RCV005081200] Chr11:1929820 [GRCh38]
Chr11:1951050 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.480+10G>A single nucleotide variant not provided [RCV005080556] Chr11:1934455 [GRCh38]
Chr11:1955685 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.106+11G>A single nucleotide variant not provided [RCV005074418] Chr11:1929154 [GRCh38]
Chr11:1950384 [GRCh37]
Chr11:11p15.5		 benign
NM_006757.4(TNNT3):c.9C>T (p.Asp3=) single nucleotide variant not provided [RCV005186332] Chr11:1922883 [GRCh38]
Chr11:1944113 [GRCh37]
Chr11:11p15.5		 likely benign
NM_006757.4(TNNT3):c.13G>T (p.Glu5Ter) single nucleotide variant Arthrogryposis, distal, type 2B2 [RCV005394089] Chr11:1922887 [GRCh38]
Chr11:1944117 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.69G>C (p.Glu23Asp) single nucleotide variant Inborn genetic diseases [RCV005278293] Chr11:1926696 [GRCh38]
Chr11:1947926 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.591G>C (p.Arg197Ser) single nucleotide variant Inborn genetic diseases [RCV005278294] Chr11:1934829 [GRCh38]
Chr11:1956059 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.703A>G (p.Ile235Val) single nucleotide variant Inborn genetic diseases [RCV005278292] Chr11:1936984 [GRCh38]
Chr11:1958214 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_006757.4(TNNT3):c.329G>C (p.Arg110Pro) single nucleotide variant not provided [RCV005430026] Chr11:1933971 [GRCh38]
Chr11:1955201 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_006757.4(TNNT3):c.681+9C>T single nucleotide variant TNNT3-related disorder [RCV003923101]|not provided [RCV000907685] Chr11:1934928 [GRCh38]
Chr11:1956158 [GRCh37]
Chr11:11p15.5		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:7406
Count of miRNA genes:786
Interacting mature miRNAs:963
Transcripts:ENST00000278317, ENST00000344578, ENST00000360603, ENST00000381548, ENST00000381549, ENST00000381557, ENST00000381558, ENST00000381561, ENST00000381563, ENST00000381579, ENST00000381589, ENST00000397301, ENST00000397304, ENST00000446240, ENST00000453458, ENST00000473100, ENST00000492075, ENST00000493234
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
407024946GWAS673922_Hbreast carcinoma QTL GWAS673922 (human)0.0000007mammary gland integrity trait (VT:0010552)1119207161920717Human
597037268GWAS1133342_Hpulse pressure measurement, alcohol drinking QTL GWAS1133342 (human)7e-31arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)1119218901921891Human
1558691SCL8_HSerum cholesterol level QTL 8 (human)1.2Lipid levelHDL cholesterol1115227071Human
597234349GWAS1330423_Happendicular lean mass QTL GWAS1330423 (human)5e-15body lean mass (VT:0010483)1119219841921985Human
597214926GWAS1311000_Hrenin measurement QTL GWAS1311000 (human)0.0000002renin activity (VT:0005581)1119263451926346Human
597446154GWAS1542228_Hsystolic blood pressure QTL GWAS1542228 (human)6e-09arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1119307741930775Human
597445867GWAS1541941_Hsystolic blood pressure QTL GWAS1541941 (human)2e-19arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1119202511920252Human
597075343GWAS1171417_Hmean arterial pressure QTL GWAS1171417 (human)3e-08arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1119207161920717Human
597464007GWAS1560081_Hdiastolic blood pressure QTL GWAS1560081 (human)7e-13arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)1119202511920252Human
597490449GWAS1586523_Hresponse to angiotensin receptor blocker QTL GWAS1586523 (human)0.0000003response to angiotensin receptor blocker1119279571927958Human

Markers in Region
ECD00331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,952,981 - 1,953,894UniSTSGRCh37
Build 36111,909,557 - 1,910,470RGDNCBI36
Celera1123,358 - 24,271RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,721,542 - 1,722,455UniSTS
ECD00456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,945,454 - 1,946,359UniSTSGRCh37
Build 36111,902,030 - 1,902,935RGDNCBI36
Celera1115,832 - 16,737RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,713,897 - 1,714,921UniSTS
ECD00906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,948,336 - 1,949,221UniSTSGRCh37
Build 36111,904,912 - 1,905,797RGDNCBI36
Celera1118,713 - 19,598RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,716,898 - 1,717,783UniSTS
ECD01170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,940,050 - 1,940,925UniSTSGRCh37
Build 36111,896,626 - 1,897,501RGDNCBI36
Celera1110,428 - 11,303RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,708,493 - 1,709,368UniSTS
ECD01171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,954,560 - 1,955,435UniSTSGRCh37
Build 36111,911,136 - 1,912,011RGDNCBI36
Celera1124,937 - 25,812RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,723,128 - 1,724,003UniSTS
ECD01503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,942,848 - 1,943,711UniSTSGRCh37
Build 36111,899,424 - 1,900,287RGDNCBI36
Celera1113,226 - 14,089RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,711,291 - 1,712,154UniSTS
ECD01532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,959,071 - 1,959,933UniSTSGRCh37
Build 36111,915,647 - 1,916,509RGDNCBI36
Celera1129,448 - 30,310RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,727,638 - 1,728,500UniSTS
ECD01738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,950,214 - 1,951,069UniSTSGRCh37
Build 36111,906,790 - 1,907,645RGDNCBI36
Celera1120,589 - 21,444RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,718,774 - 1,719,629UniSTS
ECD01843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,946,423 - 1,947,274UniSTSGRCh37
Build 36111,902,999 - 1,903,850RGDNCBI36
Celera1116,800 - 17,651RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,714,985 - 1,715,836UniSTS
ECD01844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,949,257 - 1,950,108UniSTSGRCh37
Build 36111,905,833 - 1,906,684RGDNCBI36
Celera1119,634 - 20,483RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,717,819 - 1,718,668UniSTS
ECD01897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,951,143 - 1,951,992UniSTSGRCh37
Build 36111,907,719 - 1,908,568RGDNCBI36
Celera1121,518 - 22,368RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,719,703 - 1,720,552UniSTS
ECD01952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,941,928 - 1,942,775UniSTSGRCh37
Build 36111,898,504 - 1,899,351RGDNCBI36
Celera1112,306 - 13,153RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,710,371 - 1,711,218UniSTS
ECD01953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,957,298 - 1,958,145UniSTSGRCh37
Build 36111,913,874 - 1,914,721RGDNCBI36
Celera1127,675 - 28,522RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,725,865 - 1,726,712UniSTS
ECD02251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,939,155 - 1,939,991UniSTSGRCh37
Build 36111,895,731 - 1,896,567RGDNCBI36
Celera119,533 - 10,369RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,707,598 - 1,708,434UniSTS
ECD02425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,940,990 - 1,941,820UniSTSGRCh37
Build 36111,897,566 - 1,898,396RGDNCBI36
Celera1111,368 - 12,198RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,709,433 - 1,710,263UniSTS
ECD02827  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,958,222 - 1,959,038UniSTSGRCh37
Build 36111,914,798 - 1,915,614RGDNCBI36
Celera1128,599 - 29,415RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,726,789 - 1,727,605UniSTS
ECD03068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,955,523 - 1,956,330UniSTSGRCh37
Build 36111,912,099 - 1,912,906RGDNCBI36
Celera1125,900 - 26,707RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,724,091 - 1,724,898UniSTS
ECD03717  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,947,427 - 1,948,213UniSTSGRCh37
Build 36111,904,003 - 1,904,789RGDNCBI36
Celera1117,804 - 18,590RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,715,989 - 1,716,775UniSTS
ECD05242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,956,416 - 1,957,157UniSTSGRCh37
Build 36111,912,992 - 1,913,733RGDNCBI36
Celera1126,793 - 27,534RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,724,983 - 1,725,724UniSTS
ECD14460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,944,275 - 1,944,768UniSTSGRCh37
Build 36111,900,851 - 1,901,344RGDNCBI36
Celera1114,653 - 15,146RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,712,718 - 1,713,211UniSTS
ECD15570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,944,834 - 1,945,301UniSTSGRCh37
Build 36111,901,410 - 1,901,877RGDNCBI36
Celera1115,212 - 15,679RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,713,277 - 1,713,744UniSTS
ECD23766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,943,855 - 1,944,032UniSTSGRCh37
Build 36111,900,431 - 1,900,608RGDNCBI36
Celera1114,233 - 14,410RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,712,298 - 1,712,475UniSTS
REN116205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,938,858 - 1,939,100UniSTSGRCh37
Build 36111,895,434 - 1,895,676RGDNCBI36
Celera119,236 - 9,478RGD
HuRef111,707,301 - 1,707,543UniSTS
REN116206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,939,079 - 1,939,329UniSTSGRCh37
Build 36111,895,655 - 1,895,905RGDNCBI36
Celera119,457 - 9,707RGD
HuRef111,707,522 - 1,707,772UniSTS
REN116207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,939,436 - 1,939,676UniSTSGRCh37
Build 36111,896,012 - 1,896,252RGDNCBI36
Celera119,814 - 10,054RGD
HuRef111,707,879 - 1,708,119UniSTS
REN116208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,939,657 - 1,939,898UniSTSGRCh37
Build 36111,896,233 - 1,896,474RGDNCBI36
Celera1110,035 - 10,276RGD
HuRef111,708,100 - 1,708,341UniSTS
REN116209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,939,909 - 1,940,136UniSTSGRCh37
Build 36111,896,485 - 1,896,712RGDNCBI36
Celera1110,287 - 10,514RGD
HuRef111,708,352 - 1,708,579UniSTS
REN116210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,940,116 - 1,940,351UniSTSGRCh37
Build 36111,896,692 - 1,896,927RGDNCBI36
Celera1110,494 - 10,729RGD
HuRef111,708,559 - 1,708,794UniSTS
REN116211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,940,499 - 1,940,746UniSTSGRCh37
Build 36111,897,075 - 1,897,322RGDNCBI36
Celera1110,877 - 11,124RGD
HuRef111,708,942 - 1,709,189UniSTS
REN116212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,940,726 - 1,940,966UniSTSGRCh37
Build 36111,897,302 - 1,897,542RGDNCBI36
Celera1111,104 - 11,344RGD
HuRef111,709,169 - 1,709,409UniSTS
REN116213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,940,962 - 1,941,213UniSTSGRCh37
Build 36111,897,538 - 1,897,789RGDNCBI36
Celera1111,340 - 11,591RGD
HuRef111,709,405 - 1,709,656UniSTS
REN116214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,941,226 - 1,941,476UniSTSGRCh37
Build 36111,897,802 - 1,898,052RGDNCBI36
Celera1111,604 - 11,854RGD
HuRef111,709,669 - 1,709,919UniSTS
REN116215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,941,473 - 1,941,697UniSTSGRCh37
Build 36111,898,049 - 1,898,273RGDNCBI36
Celera1111,851 - 12,075RGD
HuRef111,709,916 - 1,710,140UniSTS
REN116216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,941,676 - 1,941,927UniSTSGRCh37
Build 36111,898,252 - 1,898,503RGDNCBI36
Celera1112,054 - 12,305RGD
HuRef111,710,119 - 1,710,370UniSTS
REN116217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,941,908 - 1,942,142UniSTSGRCh37
Build 36111,898,484 - 1,898,718RGDNCBI36
Celera1112,286 - 12,520RGD
HuRef111,710,351 - 1,710,585UniSTS
REN116218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,942,162 - 1,942,401UniSTSGRCh37
Build 36111,898,738 - 1,898,977RGDNCBI36
Celera1112,540 - 12,779RGD
HuRef111,710,605 - 1,710,844UniSTS
REN116219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,942,405 - 1,942,646UniSTSGRCh37
Build 36111,898,981 - 1,899,222RGDNCBI36
Celera1112,783 - 13,024RGD
HuRef111,710,848 - 1,711,089UniSTS
REN116220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,942,628 - 1,942,871UniSTSGRCh37
Build 36111,899,204 - 1,899,447RGDNCBI36
Celera1113,006 - 13,249RGD
HuRef111,711,071 - 1,711,314UniSTS
REN116221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,942,887 - 1,943,146UniSTSGRCh37
Build 36111,899,463 - 1,899,722RGDNCBI36
Celera1113,265 - 13,524RGD
HuRef111,711,330 - 1,711,589UniSTS
REN116222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,943,202 - 1,943,426UniSTSGRCh37
Build 36111,899,778 - 1,900,002RGDNCBI36
Celera1113,580 - 13,804RGD
HuRef111,711,645 - 1,711,869UniSTS
REN116223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,943,404 - 1,943,671UniSTSGRCh37
Build 36111,899,980 - 1,900,247RGDNCBI36
Celera1113,782 - 14,049RGD
HuRef111,711,847 - 1,712,114UniSTS
REN116224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,943,655 - 1,943,879UniSTSGRCh37
Build 36111,900,231 - 1,900,455RGDNCBI36
Celera1114,033 - 14,257RGD
HuRef111,712,098 - 1,712,322UniSTS
REN116225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,943,855 - 1,944,092UniSTSGRCh37
Build 36111,900,431 - 1,900,668RGDNCBI36
Celera1114,233 - 14,470RGD
HuRef111,712,298 - 1,712,535UniSTS
REN116226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,944,070 - 1,944,308UniSTSGRCh37
Build 36111,900,646 - 1,900,884RGDNCBI36
Celera1114,448 - 14,686RGD
HuRef111,712,513 - 1,712,751UniSTS
REN116227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,944,288 - 1,944,545UniSTSGRCh37
Build 36111,900,864 - 1,901,121RGDNCBI36
Celera1114,666 - 14,923RGD
HuRef111,712,731 - 1,712,988UniSTS
REN116228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,944,525 - 1,944,770UniSTSGRCh37
Build 36111,901,101 - 1,901,346RGDNCBI36
Celera1114,903 - 15,148RGD
HuRef111,712,968 - 1,713,213UniSTS
REN116229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,944,796 - 1,945,044UniSTSGRCh37
Build 36111,901,372 - 1,901,620RGDNCBI36
Celera1115,174 - 15,422RGD
HuRef111,713,239 - 1,713,487UniSTS
REN116230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,945,030 - 1,945,283UniSTSGRCh37
Build 36111,901,606 - 1,901,859RGDNCBI36
Celera1115,408 - 15,661RGD
HuRef111,713,473 - 1,713,726UniSTS
REN116231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,945,415 - 1,945,668UniSTSGRCh37
Build 36111,901,991 - 1,902,244RGDNCBI36
Celera1115,793 - 16,046RGD
REN116232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,945,648 - 1,945,890UniSTSGRCh37
Build 36111,902,224 - 1,902,466RGDNCBI36
Celera1116,026 - 16,268RGD
REN116233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,945,875 - 1,946,128UniSTSGRCh37
Build 36111,902,451 - 1,902,704RGDNCBI36
Celera1116,253 - 16,506RGD
HuRef111,714,437 - 1,714,690UniSTS
REN116234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,946,105 - 1,946,352UniSTSGRCh37
Build 36111,902,681 - 1,902,928RGDNCBI36
Celera1116,483 - 16,730RGD
HuRef111,714,667 - 1,714,914UniSTS
REN116235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,946,424 - 1,946,662UniSTSGRCh37
Build 36111,903,000 - 1,903,238RGDNCBI36
Celera1116,801 - 17,039RGD
HuRef111,714,986 - 1,715,224UniSTS
REN116236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,946,638 - 1,946,862UniSTSGRCh37
Build 36111,903,214 - 1,903,438RGDNCBI36
Celera1117,015 - 17,239RGD
HuRef111,715,200 - 1,715,424UniSTS
REN116237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,946,915 - 1,947,156UniSTSGRCh37
Build 36111,903,491 - 1,903,732RGDNCBI36
Celera1117,292 - 17,533RGD
HuRef111,715,477 - 1,715,718UniSTS
REN116238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,947,256 - 1,947,505UniSTSGRCh37
Build 36111,903,832 - 1,904,081RGDNCBI36
Celera1117,633 - 17,882RGD
HuRef111,715,818 - 1,716,067UniSTS
REN116239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,947,494 - 1,947,731UniSTSGRCh37
Build 36111,904,070 - 1,904,307RGDNCBI36
Celera1117,871 - 18,108RGD
HuRef111,716,056 - 1,716,293UniSTS
REN116240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,947,707 - 1,947,945UniSTSGRCh37
Build 36111,904,283 - 1,904,521RGDNCBI36
Celera1118,084 - 18,322RGD
HuRef111,716,269 - 1,716,507UniSTS
REN116241  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,947,921 - 1,948,165UniSTSGRCh37
Build 36111,904,497 - 1,904,741RGDNCBI36
Celera1118,298 - 18,542RGD
HuRef111,716,483 - 1,716,727UniSTS
REN116242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,948,141 - 1,948,379UniSTSGRCh37
Build 36111,904,717 - 1,904,955RGDNCBI36
Celera1118,518 - 18,756RGD
HuRef111,716,703 - 1,716,941UniSTS
REN116243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,948,401 - 1,948,628UniSTSGRCh37
Build 36111,904,977 - 1,905,204RGDNCBI36
Celera1118,778 - 19,005RGD
HuRef111,716,963 - 1,717,190UniSTS
REN116244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,948,605 - 1,948,860UniSTSGRCh37
Build 36111,905,181 - 1,905,436RGDNCBI36
Celera1118,982 - 19,237RGD
HuRef111,717,167 - 1,717,422UniSTS
REN116245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,948,841 - 1,949,066UniSTSGRCh37
Build 36111,905,417 - 1,905,642RGDNCBI36
Celera1119,218 - 19,443RGD
HuRef111,717,403 - 1,717,628UniSTS
REN116246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,949,079 - 1,949,305UniSTSGRCh37
Build 36111,905,655 - 1,905,881RGDNCBI36
Celera1119,456 - 19,682RGD
HuRef111,717,641 - 1,717,867UniSTS
REN116247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,949,363 - 1,949,593UniSTSGRCh37
Build 36111,905,939 - 1,906,169RGDNCBI36
Celera1119,740 - 19,970RGD
HuRef111,717,925 - 1,718,155UniSTS
REN116248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,949,624 - 1,949,872UniSTSGRCh37
Build 36111,906,200 - 1,906,448RGDNCBI36
Celera1120,001 - 20,249RGD
HuRef111,718,186 - 1,718,434UniSTS
REN116249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,949,852 - 1,950,112UniSTSGRCh37
Build 36111,906,428 - 1,906,688RGDNCBI36
Celera1120,229 - 20,487RGD
HuRef111,718,414 - 1,718,672UniSTS
REN116250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,950,095 - 1,950,330UniSTSGRCh37
Build 36111,906,671 - 1,906,906RGDNCBI36
Celera1120,470 - 20,705RGD
HuRef111,718,655 - 1,718,890UniSTS
REN116251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,950,333 - 1,950,604UniSTSGRCh37
Build 36111,906,909 - 1,907,180RGDNCBI36
REN116252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,950,586 - 1,950,838UniSTSGRCh37
Build 36111,907,162 - 1,907,414RGDNCBI36
REN116253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,950,819 - 1,951,064UniSTSGRCh37
Build 36111,907,395 - 1,907,640RGDNCBI36
Celera1121,194 - 21,439RGD
HuRef111,719,379 - 1,719,624UniSTS
REN116254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,951,047 - 1,951,319UniSTSGRCh37
Build 36111,907,623 - 1,907,895RGDNCBI36
Celera1121,422 - 21,694RGD
HuRef111,719,607 - 1,719,879UniSTS
REN116255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,951,301 - 1,951,567UniSTSGRCh37
Build 36111,907,877 - 1,908,143RGDNCBI36
Celera1121,676 - 21,943RGD
HuRef111,719,861 - 1,720,127UniSTS
REN116256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,951,548 - 1,951,789UniSTSGRCh37
Build 36111,908,124 - 1,908,365RGDNCBI36
Celera1121,924 - 22,165RGD
HuRef111,720,108 - 1,720,349UniSTS
REN116257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,951,921 - 1,952,161UniSTSGRCh37
Build 36111,908,497 - 1,908,737RGDNCBI36
Celera1122,297 - 22,537RGD
HuRef111,720,481 - 1,720,721UniSTS
REN116258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,952,168 - 1,952,430UniSTSGRCh37
Build 36111,908,744 - 1,909,006RGDNCBI36
Celera1122,544 - 22,806RGD
HuRef111,720,728 - 1,720,990UniSTS
REN116259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,952,413 - 1,952,638UniSTSGRCh37
Build 36111,908,989 - 1,909,214RGDNCBI36
Celera1122,789 - 23,014RGD
HuRef111,720,973 - 1,721,198UniSTS
REN116260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,952,617 - 1,952,860UniSTSGRCh37
Build 36111,909,193 - 1,909,436RGDNCBI36
Celera1122,993 - 23,236RGD
HuRef111,721,177 - 1,721,420UniSTS
REN116261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,952,838 - 1,953,077UniSTSGRCh37
Build 36111,909,414 - 1,909,653RGDNCBI36
Celera1123,214 - 23,454RGD
HuRef111,721,398 - 1,721,638UniSTS
REN116262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,953,054 - 1,953,279UniSTSGRCh37
Build 36111,909,630 - 1,909,855RGDNCBI36
Celera1123,431 - 23,656RGD
HuRef111,721,615 - 1,721,840UniSTS
REN116263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,953,444 - 1,953,675UniSTSGRCh37
Build 36111,910,020 - 1,910,251RGDNCBI36
Celera1123,821 - 24,052RGD
HuRef111,722,005 - 1,722,236UniSTS
REN116264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,953,684 - 1,953,915UniSTSGRCh37
Build 36111,910,260 - 1,910,491RGDNCBI36
Celera1124,061 - 24,292RGD
HuRef111,722,245 - 1,722,476UniSTS
REN116265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,953,923 - 1,954,157UniSTSGRCh37
Build 36111,910,499 - 1,910,733RGDNCBI36
Celera1124,300 - 24,534RGD
HuRef111,722,484 - 1,722,725UniSTS
REN116266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,954,174 - 1,954,440UniSTSGRCh37
Build 36111,910,750 - 1,911,016RGDNCBI36
Celera1124,551 - 24,817RGD
HuRef111,722,742 - 1,723,008UniSTS
REN116267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,954,440 - 1,954,671UniSTSGRCh37
Build 36111,911,016 - 1,911,247RGDNCBI36
Celera1124,817 - 25,048RGD
HuRef111,723,008 - 1,723,239UniSTS
REN116268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,954,649 - 1,954,880UniSTSGRCh37
Build 36111,911,225 - 1,911,456RGDNCBI36
Celera1125,026 - 25,257RGD
HuRef111,723,217 - 1,723,448UniSTS
REN116269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,954,859 - 1,955,087UniSTSGRCh37
Build 36111,911,435 - 1,911,663RGDNCBI36
Celera1125,236 - 25,464RGD
HuRef111,723,427 - 1,723,655UniSTS
REN116270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,955,148 - 1,955,372UniSTSGRCh37
Build 36111,911,724 - 1,911,948RGDNCBI36
Celera1125,525 - 25,749RGD
HuRef111,723,716 - 1,723,940UniSTS
REN116271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,955,348 - 1,955,591UniSTSGRCh37
Build 36111,911,924 - 1,912,167RGDNCBI36
Celera1125,725 - 25,968RGD
HuRef111,723,916 - 1,724,159UniSTS
REN116272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,955,583 - 1,955,834UniSTSGRCh37
Build 36111,912,159 - 1,912,410RGDNCBI36
Celera1125,960 - 26,211RGD
Cytogenetic Map11p15.5UniSTS
HuRef111,724,151 - 1,724,402UniSTS
REN116273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,955,810 - 1,956,045UniSTSGRCh37
Build 36111,912,386 - 1,912,621RGDNCBI36
Celera1126,187 - 26,422RGD
HuRef111,724,378 - 1,724,613UniSTS
REN116274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,956,022 - 1,956,248UniSTSGRCh37
Build 36111,912,598 - 1,912,824RGDNCBI36
Celera1126,399 - 26,625RGD
HuRef111,724,590 - 1,724,816UniSTS
REN116275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,956,262 - 1,956,507UniSTSGRCh37
Build 36111,912,838 - 1,913,083RGDNCBI36
Celera1126,639 - 26,884RGD
HuRef111,724,830 - 1,725,074UniSTS
REN116276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,956,483 - 1,956,727UniSTSGRCh37
Build 36111,913,059 - 1,913,303RGDNCBI36
Celera1126,860 - 27,104RGD
HuRef111,725,050 - 1,725,294UniSTS
REN116277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,956,775 - 1,957,017UniSTSGRCh37
Build 36111,913,351 - 1,913,593RGDNCBI36
Celera1127,152 - 27,394RGD
HuRef111,725,342 - 1,725,584UniSTS
REN116278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,957,053 - 1,957,296UniSTSGRCh37
Build 36111,913,629 - 1,913,872RGDNCBI36
Celera1127,430 - 27,673RGD
HuRef111,725,620 - 1,725,863UniSTS
REN116279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,957,272 - 1,957,499UniSTSGRCh37
Build 36111,913,848 - 1,914,075RGDNCBI36
Celera1127,649 - 27,876RGD
HuRef111,725,839 - 1,726,066UniSTS
REN116280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,957,815 - 1,958,049UniSTSGRCh37
Build 36111,914,391 - 1,914,625RGDNCBI36
Celera1128,192 - 28,426RGD
HuRef111,726,382 - 1,726,616UniSTS
REN116281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,958,029 - 1,958,253UniSTSGRCh37
Build 36111,914,605 - 1,914,829RGDNCBI36
Celera1128,406 - 28,630RGD
HuRef111,726,596 - 1,726,820UniSTS
REN116282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,958,445 - 1,958,673UniSTSGRCh37
Build 36111,915,021 - 1,915,249RGDNCBI36
Celera1128,822 - 29,050RGD
HuRef111,727,012 - 1,727,240UniSTS
REN116283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,958,694 - 1,958,918UniSTSGRCh37
Build 36111,915,270 - 1,915,494RGDNCBI36
Celera1129,071 - 29,295RGD
HuRef111,727,261 - 1,727,485UniSTS
REN116284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,959,095 - 1,959,343UniSTSGRCh37
Build 36111,915,671 - 1,915,919RGDNCBI36
Celera1129,472 - 29,720RGD
HuRef111,727,662 - 1,727,910UniSTS
REN116285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,959,398 - 1,959,661UniSTSGRCh37
Build 36111,915,974 - 1,916,237RGDNCBI36
Celera1129,775 - 30,038RGD
HuRef111,727,965 - 1,728,228UniSTS
REN116286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,959,643 - 1,959,895UniSTSGRCh37
Build 36111,916,219 - 1,916,471RGDNCBI36
Celera1130,020 - 30,272RGD
HuRef111,728,210 - 1,728,462UniSTS
REN116287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,959,930 - 1,960,170UniSTSGRCh37
Build 36111,916,506 - 1,916,746RGDNCBI36
Celera1130,307 - 30,547RGD
HuRef111,728,497 - 1,728,737UniSTS
REN116288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,960,146 - 1,960,377UniSTSGRCh37
Build 36111,916,722 - 1,916,953RGDNCBI36
Celera1130,523 - 30,754RGD
HuRef111,728,713 - 1,728,944UniSTS
stSG548566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,939,824 - 1,941,241UniSTSGRCh37
Build 36111,896,400 - 1,897,817RGDNCBI36
Celera1110,202 - 11,619RGD
HuRef111,708,267 - 1,709,684UniSTS
stSG548568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,942,805 - 1,944,405UniSTSGRCh37
Build 36111,899,381 - 1,900,981RGDNCBI36
Celera1113,183 - 14,783RGD
HuRef111,711,248 - 1,712,848UniSTS
stSG548569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,944,412 - 1,945,982UniSTSGRCh37
Build 36111,900,988 - 1,902,558RGDNCBI36
Celera1114,790 - 16,360RGD
HuRef111,712,855 - 1,714,544UniSTS
stSG548570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,945,963 - 1,947,657UniSTSGRCh37
Build 36111,902,539 - 1,904,233RGDNCBI36
Celera1116,341 - 18,034RGD
HuRef111,714,525 - 1,716,219UniSTS
stSG548571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,947,638 - 1,949,071UniSTSGRCh37
Build 36111,904,214 - 1,905,647RGDNCBI36
Celera1118,015 - 19,448RGD
HuRef111,716,200 - 1,717,633UniSTS
stSG548572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,949,052 - 1,950,323UniSTSGRCh37
Build 36111,905,628 - 1,906,899RGDNCBI36
Celera1119,429 - 20,698RGD
HuRef111,717,614 - 1,718,883UniSTS
stSG548573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,950,468 - 1,951,819UniSTSGRCh37
Build 36111,907,044 - 1,908,395RGDNCBI36
Celera1120,843 - 22,195RGD
HuRef111,719,028 - 1,720,379UniSTS
stSG548574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,951,809 - 1,953,230UniSTSGRCh37
Build 36111,908,385 - 1,909,806RGDNCBI36
Celera1122,185 - 23,607RGD
HuRef111,720,369 - 1,721,791UniSTS
stSG548576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,954,810 - 1,956,473UniSTSGRCh37
Build 36111,911,386 - 1,913,049RGDNCBI36
Celera1125,187 - 26,850RGD
HuRef111,723,378 - 1,725,040UniSTS
stSG548577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,956,460 - 1,957,992UniSTSGRCh37
Build 36111,913,036 - 1,914,568RGDNCBI36
Celera1126,837 - 28,369RGD
HuRef111,725,027 - 1,726,559UniSTS
stSG548578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,957,974 - 1,959,475UniSTSGRCh37
Build 36111,914,550 - 1,916,051RGDNCBI36
Celera1128,351 - 29,852RGD
HuRef111,726,541 - 1,728,042UniSTS
GDB:385948  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p15.5UniSTS
D11S922  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p15.5UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
2408 4519 5574 4426 8981 3026 3764 5 914 3010 591 4070 12656 11934 20 6961 1259 3048 2665 336 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001297646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC051649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF026276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI161366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
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  U14644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000278317   ⟹   ENSP00000278317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,919,703 - 1,938,702 (+)Ensembl
Ensembl Acc Id: ENST00000344578   ⟹   ENSP00000344870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,919,725 - 1,938,492 (+)Ensembl
Ensembl Acc Id: ENST00000381557   ⟹   ENSP00000370969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,919,706 - 1,938,701 (+)Ensembl
Ensembl Acc Id: ENST00000381558   ⟹   ENSP00000370970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,919,748 - 1,938,706 (+)Ensembl
Ensembl Acc Id: ENST00000381563   ⟹   ENSP00000370975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,919,723 - 1,938,492 (+)Ensembl
Ensembl Acc Id: ENST00000381579   ⟹   ENSP00000370991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,919,706 - 1,938,706 (+)Ensembl
Ensembl Acc Id: ENST00000381589   ⟹   ENSP00000371001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,919,706 - 1,938,706 (+)Ensembl
Ensembl Acc Id: ENST00000397301   ⟹   ENSP00000380468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,922,867 - 1,938,492 (+)Ensembl
Ensembl Acc Id: ENST00000397304   ⟹   ENSP00000380471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,922,875 - 1,938,492 (+)Ensembl
Ensembl Acc Id: ENST00000446240   ⟹   ENSP00000413203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,922,875 - 1,938,492 (+)Ensembl
Ensembl Acc Id: ENST00000453458   ⟹   ENSP00000415614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,919,706 - 1,934,919 (+)Ensembl
Ensembl Acc Id: ENST00000473100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,938,200 - 1,938,702 (+)Ensembl
Ensembl Acc Id: ENST00000492075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,924,918 - 1,934,655 (+)Ensembl
Ensembl Acc Id: ENST00000493234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,933,873 - 1,935,581 (+)Ensembl
Ensembl Acc Id: ENST00000639560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,927,822 - 1,938,483 (+)Ensembl
Ensembl Acc Id: ENST00000641119   ⟹   ENSP00000492914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,922,779 - 1,938,566 (+)Ensembl
Ensembl Acc Id: ENST00000641225   ⟹   ENSP00000493372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,922,779 - 1,938,567 (+)Ensembl
Ensembl Acc Id: ENST00000641787   ⟹   ENSP00000493331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,922,779 - 1,938,567 (+)Ensembl
Ensembl Acc Id: ENST00000706488   ⟹   ENSP00000516410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,922,853 - 1,938,699 (+)Ensembl
RefSeq Acc Id: NM_001042780   ⟹   NP_001036245
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
GRCh37111,940,799 - 1,959,936 (+)ENTREZGENE
Build 36111,897,445 - 1,916,514 (+)NCBI Archive
HuRef111,709,242 - 1,728,503 (+)ENTREZGENE
CHM1_1111,939,717 - 1,958,858 (+)NCBI
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001042781   ⟹   NP_001036246
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
GRCh37111,940,799 - 1,959,936 (+)ENTREZGENE
Build 36111,900,663 - 1,916,514 (+)NCBI Archive
HuRef111,709,242 - 1,728,503 (+)ENTREZGENE
CHM1_1111,939,717 - 1,958,858 (+)NCBI
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001042782   ⟹   NP_001036247
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
GRCh37111,940,799 - 1,959,936 (+)ENTREZGENE
Build 36111,900,663 - 1,916,514 (+)NCBI Archive
HuRef111,709,242 - 1,728,503 (+)ENTREZGENE
CHM1_1111,939,717 - 1,958,858 (+)NCBI
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001297646   ⟹   NP_001284575
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
CHM1_1111,939,717 - 1,958,858 (+)NCBI
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363561   ⟹   NP_001350490
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367842   ⟹   NP_001354771
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,831 - 1,938,702 (+)NCBI
T2T-CHM13v2.0111,986,871 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367843   ⟹   NP_001354772
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,831 - 1,938,702 (+)NCBI
T2T-CHM13v2.0111,986,871 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367844   ⟹   NP_001354773
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,831 - 1,938,702 (+)NCBI
T2T-CHM13v2.0111,986,871 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367845   ⟹   NP_001354774
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367846   ⟹   NP_001354775
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367847   ⟹   NP_001354776
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,831 - 1,938,702 (+)NCBI
T2T-CHM13v2.0111,986,871 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367848   ⟹   NP_001354777
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367849   ⟹   NP_001354778
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,831 - 1,938,702 (+)NCBI
T2T-CHM13v2.0111,986,871 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367850   ⟹   NP_001354779
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367851   ⟹   NP_001354780
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001367852   ⟹   NP_001354781
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,831 - 1,938,702 (+)NCBI
T2T-CHM13v2.0111,986,871 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006757   ⟹   NP_006748
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
GRCh37111,940,799 - 1,959,936 (+)ENTREZGENE
Build 36111,900,663 - 1,916,514 (+)NCBI Archive
HuRef111,709,242 - 1,728,503 (+)ENTREZGENE
CHM1_1111,939,717 - 1,958,858 (+)NCBI
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718294   ⟹   XP_006718357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718299   ⟹   XP_006718362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718300   ⟹   XP_006718363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520343   ⟹   XP_011518645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,921,362 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018205   ⟹   XP_016873694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018206   ⟹   XP_016873695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,552 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018207   ⟹   XP_016873696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,552 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018208   ⟹   XP_016873697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,857 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018209   ⟹   XP_016873698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,552 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018210   ⟹   XP_016873699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,857 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018211   ⟹   XP_016873700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,553 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018212   ⟹   XP_016873701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,857 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018213   ⟹   XP_016873702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,857 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018214   ⟹   XP_016873703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,857 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018215   ⟹   XP_016873704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,857 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018216   ⟹   XP_016873705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018217   ⟹   XP_016873706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018218   ⟹   XP_016873707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018219   ⟹   XP_016873708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448669   ⟹   XP_024304437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,552 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448670   ⟹   XP_024304438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,857 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448671   ⟹   XP_024304439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,857 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448672   ⟹   XP_024304440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,922,857 - 1,938,702 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054369778   ⟹   XP_054225753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369779   ⟹   XP_054225754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369780   ⟹   XP_054225755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,983,592 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369781   ⟹   XP_054225756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,983,592 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369782   ⟹   XP_054225757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,986,897 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369783   ⟹   XP_054225758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,983,592 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369784   ⟹   XP_054225759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,983,592 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369785   ⟹   XP_054225760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,986,897 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369786   ⟹   XP_054225761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,983,593 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369787   ⟹   XP_054225762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,986,897 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369788   ⟹   XP_054225763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,986,897 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369789   ⟹   XP_054225764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,986,897 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369790   ⟹   XP_054225765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,986,897 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369791   ⟹   XP_054225766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,986,897 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369792   ⟹   XP_054225767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,986,897 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369793   ⟹   XP_054225768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,986,897 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369794   ⟹   XP_054225769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,985,402 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369795   ⟹   XP_054225770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369796   ⟹   XP_054225771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369797   ⟹   XP_054225772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369798   ⟹   XP_054225773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369799   ⟹   XP_054225774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
RefSeq Acc Id: XM_054369800   ⟹   XP_054225775
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0111,983,743 - 2,002,746 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001036245 (Get FASTA)   NCBI Sequence Viewer  
  NP_001036246 (Get FASTA)   NCBI Sequence Viewer  
  NP_001036247 (Get FASTA)   NCBI Sequence Viewer  
  NP_001284575 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350490 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354771 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354772 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354773 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354774 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354775 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354776 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354777 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354778 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354779 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354780 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354781 (Get FASTA)   NCBI Sequence Viewer  
  NP_006748 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718357 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718362 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718363 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518645 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873694 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873695 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873696 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873697 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873698 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873699 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873700 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873701 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873702 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873703 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873704 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873705 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873706 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873707 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873708 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304437 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304438 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304439 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304440 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188422 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188423 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188424 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188425 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188426 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188427 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188428 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188429 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188430 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188431 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188432 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188433 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188434 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188435 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188436 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188437 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188438 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188439 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188440 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188441 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188442 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188443 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188444 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225753 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225754 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225755 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225756 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225757 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225758 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225759 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225760 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225761 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225762 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225763 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225764 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225765 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225766 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225767 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225768 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225769 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225770 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225771 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225772 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225773 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225774 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225775 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36777 (Get FASTA)   NCBI Sequence Viewer  
  AAA50359 (Get FASTA)   NCBI Sequence Viewer  
  AAA50360 (Get FASTA)   NCBI Sequence Viewer  
  AAA50361 (Get FASTA)   NCBI Sequence Viewer  
  AAA50362 (Get FASTA)   NCBI Sequence Viewer  
  AAF21629 (Get FASTA)   NCBI Sequence Viewer  
  AAH50446 (Get FASTA)   NCBI Sequence Viewer  
  AAH62430 (Get FASTA)   NCBI Sequence Viewer  
  AAI17328 (Get FASTA)   NCBI Sequence Viewer  
  AAI43538 (Get FASTA)   NCBI Sequence Viewer  
  AAI71727 (Get FASTA)   NCBI Sequence Viewer  
  AAV38800 (Get FASTA)   NCBI Sequence Viewer  
  ABG77458 (Get FASTA)   NCBI Sequence Viewer  
  BAG51835 (Get FASTA)   NCBI Sequence Viewer  
  CAD33409 (Get FASTA)   NCBI Sequence Viewer  
  CAD33411 (Get FASTA)   NCBI Sequence Viewer  
  CAE45814 (Get FASTA)   NCBI Sequence Viewer  
  CAG46725 (Get FASTA)   NCBI Sequence Viewer  
  EAW50569 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000278317
  ENSP00000278317.6
  ENSP00000344870
  ENSP00000344870.4
  ENSP00000370969
  ENSP00000370970
  ENSP00000370970.1
  ENSP00000370975
  ENSP00000370975.4
  ENSP00000370991
  ENSP00000370991.3
  ENSP00000371001
  ENSP00000371001.3
  ENSP00000380468
  ENSP00000380468.1
  ENSP00000380471
  ENSP00000413203
  ENSP00000415614
  ENSP00000492914
  ENSP00000492914.1
  ENSP00000493331
  ENSP00000493331.1
  ENSP00000493372
  ENSP00000499917.1
  ENSP00000500081.1
  ENSP00000500156.1
  ENSP00000500263.1
  ENSP00000500437.1
  ENSP00000500606.1
  ENSP00000500705.1
  ENSP00000500796.1
  ENSP00000500846.1
  ENSP00000516410
GenBank Protein P45378 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001036246   ⟸   NM_001042781
- Peptide Label: isoform 2
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006748   ⟸   NM_006757
- Peptide Label: isoform 1
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001036245   ⟸   NM_001042780
- Peptide Label: isoform 3
- UniProtKB: C9JZN9 (UniProtKB/TrEMBL),   F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001036247   ⟸   NM_001042782
- Peptide Label: isoform 4
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718357   ⟸   XM_006718294
- Peptide Label: isoform X1
- UniProtKB: C9JZN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718363   ⟸   XM_006718300
- Peptide Label: isoform X21
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718362   ⟸   XM_006718299
- Peptide Label: isoform X20
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001284575   ⟸   NM_001297646
- Peptide Label: isoform 4
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011518645   ⟸   XM_011520343
- Peptide Label: isoform X3
- UniProtKB: Q6N056 (UniProtKB/Swiss-Prot),   Q6FH29 (UniProtKB/Swiss-Prot),   Q17RG9 (UniProtKB/Swiss-Prot),   Q12978 (UniProtKB/Swiss-Prot),   Q12977 (UniProtKB/Swiss-Prot),   Q12976 (UniProtKB/Swiss-Prot),   Q12975 (UniProtKB/Swiss-Prot),   B7ZVV9 (UniProtKB/Swiss-Prot),   B7ZL26 (UniProtKB/Swiss-Prot),   B7WP64 (UniProtKB/Swiss-Prot),   B3KPX3 (UniProtKB/Swiss-Prot),   A8MSW1 (UniProtKB/Swiss-Prot),   A8MQ76 (UniProtKB/Swiss-Prot),   Q86TH6 (UniProtKB/Swiss-Prot),   P45378 (UniProtKB/Swiss-Prot),   F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873695   ⟸   XM_017018206
- Peptide Label: isoform X3
- UniProtKB: Q6N056 (UniProtKB/Swiss-Prot),   Q6FH29 (UniProtKB/Swiss-Prot),   Q17RG9 (UniProtKB/Swiss-Prot),   Q12978 (UniProtKB/Swiss-Prot),   Q12977 (UniProtKB/Swiss-Prot),   Q12976 (UniProtKB/Swiss-Prot),   Q12975 (UniProtKB/Swiss-Prot),   B7ZVV9 (UniProtKB/Swiss-Prot),   B7ZL26 (UniProtKB/Swiss-Prot),   B7WP64 (UniProtKB/Swiss-Prot),   B3KPX3 (UniProtKB/Swiss-Prot),   A8MSW1 (UniProtKB/Swiss-Prot),   A8MQ76 (UniProtKB/Swiss-Prot),   Q86TH6 (UniProtKB/Swiss-Prot),   P45378 (UniProtKB/Swiss-Prot),   F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873696   ⟸   XM_017018207
- Peptide Label: isoform X4
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873698   ⟸   XM_017018209
- Peptide Label: isoform X6
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873700   ⟸   XM_017018211
- Peptide Label: isoform X9
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873694   ⟸   XM_017018205
- Peptide Label: isoform X2
- UniProtKB: F8WA37 (UniProtKB/TrEMBL),   A0A9L9PY19 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873705   ⟸   XM_017018216
- Peptide Label: isoform X17
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873706   ⟸   XM_017018217
- Peptide Label: isoform X18
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873707   ⟸   XM_017018218
- Peptide Label: isoform X19
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873708   ⟸   XM_017018219
- Peptide Label: isoform X22
- UniProtKB: H9KVA2 (UniProtKB/TrEMBL),   C9JZN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873697   ⟸   XM_017018208
- Peptide Label: isoform X5
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873703   ⟸   XM_017018214
- Peptide Label: isoform X14
- UniProtKB: C9JZN9 (UniProtKB/TrEMBL),   F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873699   ⟸   XM_017018210
- Peptide Label: isoform X8
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873701   ⟸   XM_017018212
- Peptide Label: isoform X10
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873702   ⟸   XM_017018213
- Peptide Label: isoform X13
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873704   ⟸   XM_017018215
- Peptide Label: isoform X15
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304437   ⟸   XM_024448669
- Peptide Label: isoform X7
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304439   ⟸   XM_024448671
- Peptide Label: isoform X12
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304438   ⟸   XM_024448670
- Peptide Label: isoform X11
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304440   ⟸   XM_024448672
- Peptide Label: isoform X16
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001354775   ⟸   NM_001367846
- Peptide Label: isoform 8
- UniProtKB: Q6N056 (UniProtKB/Swiss-Prot),   Q6FH29 (UniProtKB/Swiss-Prot),   Q17RG9 (UniProtKB/Swiss-Prot),   Q12978 (UniProtKB/Swiss-Prot),   Q12977 (UniProtKB/Swiss-Prot),   Q12976 (UniProtKB/Swiss-Prot),   Q12975 (UniProtKB/Swiss-Prot),   P45378 (UniProtKB/Swiss-Prot),   B7ZVV9 (UniProtKB/Swiss-Prot),   B7ZL26 (UniProtKB/Swiss-Prot),   B7WP64 (UniProtKB/Swiss-Prot),   B3KPX3 (UniProtKB/Swiss-Prot),   A8MSW1 (UniProtKB/Swiss-Prot),   A8MQ76 (UniProtKB/Swiss-Prot),   Q86TH6 (UniProtKB/Swiss-Prot),   F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350490   ⟸   NM_001363561
- Peptide Label: isoform 5
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354777   ⟸   NM_001367848
- Peptide Label: isoform 9
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354774   ⟸   NM_001367845
- Peptide Label: isoform 7
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354779   ⟸   NM_001367850
- Peptide Label: isoform 11
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354780   ⟸   NM_001367851
- Peptide Label: isoform 12
- UniProtKB: A0A286YFB1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354776   ⟸   NM_001367847
- Peptide Label: isoform 5
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354772   ⟸   NM_001367843
- Peptide Label: isoform 6
- UniProtKB: F8WA37 (UniProtKB/TrEMBL),   A0A9L9PY19 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354771   ⟸   NM_001367842
- Peptide Label: isoform 2
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354773   ⟸   NM_001367844
- Peptide Label: isoform 4
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354778   ⟸   NM_001367849
- Peptide Label: isoform 10
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001354781   ⟸   NM_001367852
- Peptide Label: isoform 12
- UniProtKB: A0A286YFB1 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000415614   ⟸   ENST00000453458
Ensembl Acc Id: ENSP00000492914   ⟸   ENST00000641119
Ensembl Acc Id: ENSP00000493372   ⟸   ENST00000641225
Ensembl Acc Id: ENSP00000493331   ⟸   ENST00000641787
Ensembl Acc Id: ENSP00000413203   ⟸   ENST00000446240
Ensembl Acc Id: ENSP00000370991   ⟸   ENST00000381579
Ensembl Acc Id: ENSP00000371001   ⟸   ENST00000381589
Ensembl Acc Id: ENSP00000370970   ⟸   ENST00000381558
Ensembl Acc Id: ENSP00000370969   ⟸   ENST00000381557
Ensembl Acc Id: ENSP00000370975   ⟸   ENST00000381563
Ensembl Acc Id: ENSP00000278317   ⟸   ENST00000278317
Ensembl Acc Id: ENSP00000380471   ⟸   ENST00000397304
Ensembl Acc Id: ENSP00000380468   ⟸   ENST00000397301
Ensembl Acc Id: ENSP00000344870   ⟸   ENST00000344578
Ensembl Acc Id: ENSP00000516410   ⟸   ENST00000706488
RefSeq Acc Id: XP_054225755   ⟸   XM_054369780
- Peptide Label: isoform X3
- UniProtKB: Q6N056 (UniProtKB/Swiss-Prot),   Q6FH29 (UniProtKB/Swiss-Prot),   Q17RG9 (UniProtKB/Swiss-Prot),   Q12978 (UniProtKB/Swiss-Prot),   Q12977 (UniProtKB/Swiss-Prot),   Q12976 (UniProtKB/Swiss-Prot),   Q12975 (UniProtKB/Swiss-Prot),   P45378 (UniProtKB/Swiss-Prot),   B7ZVV9 (UniProtKB/Swiss-Prot),   B7ZL26 (UniProtKB/Swiss-Prot),   B7WP64 (UniProtKB/Swiss-Prot),   B3KPX3 (UniProtKB/Swiss-Prot),   A8MSW1 (UniProtKB/Swiss-Prot),   A8MQ76 (UniProtKB/Swiss-Prot),   Q86TH6 (UniProtKB/Swiss-Prot),   F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225759   ⟸   XM_054369784
- Peptide Label: isoform X7
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225756   ⟸   XM_054369781
- Peptide Label: isoform X4
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225758   ⟸   XM_054369783
- Peptide Label: isoform X6
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225761   ⟸   XM_054369786
- Peptide Label: isoform X9
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225753   ⟸   XM_054369778
- Peptide Label: isoform X1
- UniProtKB: C9JZN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225754   ⟸   XM_054369779
- Peptide Label: isoform X2
- UniProtKB: A0A9L9PY19 (UniProtKB/TrEMBL),   F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225773   ⟸   XM_054369798
- Peptide Label: isoform X20
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225774   ⟸   XM_054369799
- Peptide Label: isoform X21
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225770   ⟸   XM_054369795
- Peptide Label: isoform X17
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225771   ⟸   XM_054369796
- Peptide Label: isoform X18
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225772   ⟸   XM_054369797
- Peptide Label: isoform X19
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225775   ⟸   XM_054369800
- Peptide Label: isoform X22
- UniProtKB: H9KVA2 (UniProtKB/TrEMBL),   C9JZN9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225769   ⟸   XM_054369794
- Peptide Label: isoform X3
- UniProtKB: Q6N056 (UniProtKB/Swiss-Prot),   Q6FH29 (UniProtKB/Swiss-Prot),   Q17RG9 (UniProtKB/Swiss-Prot),   Q12978 (UniProtKB/Swiss-Prot),   Q12977 (UniProtKB/Swiss-Prot),   Q12976 (UniProtKB/Swiss-Prot),   Q12975 (UniProtKB/Swiss-Prot),   P45378 (UniProtKB/Swiss-Prot),   B7ZVV9 (UniProtKB/Swiss-Prot),   B7ZL26 (UniProtKB/Swiss-Prot),   B7WP64 (UniProtKB/Swiss-Prot),   B3KPX3 (UniProtKB/Swiss-Prot),   A8MSW1 (UniProtKB/Swiss-Prot),   A8MQ76 (UniProtKB/Swiss-Prot),   Q86TH6 (UniProtKB/Swiss-Prot),   F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225757   ⟸   XM_054369782
- Peptide Label: isoform X5
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225760   ⟸   XM_054369785
- Peptide Label: isoform X8
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225764   ⟸   XM_054369789
- Peptide Label: isoform X12
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225766   ⟸   XM_054369791
- Peptide Label: isoform X14
- UniProtKB: C9JZN9 (UniProtKB/TrEMBL),   F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225763   ⟸   XM_054369788
- Peptide Label: isoform X11
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225762   ⟸   XM_054369787
- Peptide Label: isoform X10
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225765   ⟸   XM_054369790
- Peptide Label: isoform X13
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225767   ⟸   XM_054369792
- Peptide Label: isoform X15
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225768   ⟸   XM_054369793
- Peptide Label: isoform X16
- UniProtKB: F8WA37 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P45378-F1-model_v2 AlphaFold P45378 1-269 view protein structure

Promoters
RGD ID:7219297
Promoter ID:EPDNEW_H15395
Type:multiple initiation site
Name:TNNT3_1
Description:troponin T3, fast skeletal type
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15373  EPDNEW_H15394  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,919,703 - 1,919,763EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11950 AgrOrtholog
COSMIC TNNT3 COSMIC
Ensembl Genes ENSG00000130595 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000288250 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000278317 ENTREZGENE
  ENST00000278317.11 UniProtKB/Swiss-Prot
  ENST00000344578 ENTREZGENE
  ENST00000344578.8 UniProtKB/Swiss-Prot
  ENST00000381557 ENTREZGENE
  ENST00000381558 ENTREZGENE
  ENST00000381558.6 UniProtKB/Swiss-Prot
  ENST00000381563 ENTREZGENE
  ENST00000381563.8 UniProtKB/Swiss-Prot
  ENST00000381579 ENTREZGENE
  ENST00000381579.7 UniProtKB/Swiss-Prot
  ENST00000381589 ENTREZGENE
  ENST00000381589.7 UniProtKB/Swiss-Prot
  ENST00000397301 ENTREZGENE
  ENST00000397301.5 UniProtKB/Swiss-Prot
  ENST00000397304 ENTREZGENE
  ENST00000446240 ENTREZGENE
  ENST00000453458 ENTREZGENE
  ENST00000641119 ENTREZGENE
  ENST00000641119.1 UniProtKB/Swiss-Prot
  ENST00000641225 ENTREZGENE
  ENST00000641787 ENTREZGENE
  ENST00000641787.1 UniProtKB/Swiss-Prot
  ENST00000671850.1 UniProtKB/Swiss-Prot
  ENST00000672214.1 UniProtKB/Swiss-Prot
  ENST00000672629.1 UniProtKB/Swiss-Prot
  ENST00000672659.1 UniProtKB/Swiss-Prot
  ENST00000673082.1 UniProtKB/Swiss-Prot
  ENST00000673157.1 UniProtKB/Swiss-Prot
  ENST00000673174.1 UniProtKB/Swiss-Prot
  ENST00000673503.1 UniProtKB/Swiss-Prot
  ENST00000673572.1 UniProtKB/Swiss-Prot
  ENST00000706488 ENTREZGENE
Gene3D-CATH 1.20.5.350 UniProtKB/Swiss-Prot
GTEx ENSG00000130595 GTEx
  ENSG00000288250 GTEx
HGNC ID HGNC:11950 ENTREZGENE
Human Proteome Map TNNT3 Human Proteome Map
InterPro TNNT UniProtKB/Swiss-Prot
  Troponin UniProtKB/Swiss-Prot
  Troponin_sf UniProtKB/Swiss-Prot
KEGG Report hsa:7140 UniProtKB/Swiss-Prot
NCBI Gene 7140 ENTREZGENE
OMIM 600692 OMIM
PANTHER PTHR11521 UniProtKB/Swiss-Prot
  PTHR11521:SF4 UniProtKB/Swiss-Prot
Pfam Troponin UniProtKB/Swiss-Prot
PharmGKB PA36639 PharmGKB
RNAcentral URS0000E9FC31 RNACentral
  URS0001966F1F RNACentral
  URS000197604A RNACentral
Superfamily-SCOP SSF90250 UniProtKB/Swiss-Prot
UniProt A0A286YFB1 ENTREZGENE, UniProtKB/TrEMBL
  A0A9L9PY19 ENTREZGENE, UniProtKB/TrEMBL
  A0AAG2TUI5_HUMAN UniProtKB/TrEMBL
  A8MQ76 ENTREZGENE
  A8MSW1 ENTREZGENE
  B3KPX3 ENTREZGENE
  B7WP64 ENTREZGENE
  B7ZL26 ENTREZGENE
  B7ZVV9 ENTREZGENE
  C9JCA5_HUMAN UniProtKB/TrEMBL
  C9JZN9 ENTREZGENE, UniProtKB/TrEMBL
  F8WA37 ENTREZGENE, UniProtKB/TrEMBL
  H2KMD6_HUMAN UniProtKB/TrEMBL
  H2KMD7_HUMAN UniProtKB/TrEMBL
  H2KMD8_HUMAN UniProtKB/TrEMBL
  H9KVA2 ENTREZGENE, UniProtKB/TrEMBL
  P45378 ENTREZGENE
  Q12975 ENTREZGENE
  Q12976 ENTREZGENE
  Q12977 ENTREZGENE
  Q12978 ENTREZGENE
  Q17RG9 ENTREZGENE
  Q6FH29 ENTREZGENE
  Q6N056 ENTREZGENE
  Q6P670_HUMAN UniProtKB/TrEMBL
  Q86TH6 ENTREZGENE
  TNNT3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8MQ76 UniProtKB/Swiss-Prot
  A8MSW1 UniProtKB/Swiss-Prot
  B3KPX3 UniProtKB/Swiss-Prot
  B7WP64 UniProtKB/Swiss-Prot
  B7ZL26 UniProtKB/Swiss-Prot
  B7ZVV9 UniProtKB/Swiss-Prot
  Q12975 UniProtKB/Swiss-Prot
  Q12976 UniProtKB/Swiss-Prot
  Q12977 UniProtKB/Swiss-Prot
  Q12978 UniProtKB/Swiss-Prot
  Q17RG9 UniProtKB/Swiss-Prot
  Q6FH29 UniProtKB/Swiss-Prot
  Q6N056 UniProtKB/Swiss-Prot
  Q86TH6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 TNNT3  troponin T3, fast skeletal type  AMCD2B  arthrogryposis multiplex congenita, distal, type 2B  Data merged from RGD:1348845 737654 PROVISIONAL
2016-02-23 TNNT3  troponin T3, fast skeletal type    troponin T type 3 (skeletal, fast)  Symbol and/or name change 5135510 APPROVED