Canonical Allele Identifier: CA7511375

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 282512
• ClinVar RCV Id: RCV000414202 ; RCV000644997 ; RCV002222470 ; RCV003475895 ; RCV004017582
• dbSNP Id: rs148044781
• ExAC: 15:42693989 T / C
• gnomAD v2: 15-42693989-T-C
• gnomAD v3: 15-42401791-T-C
• gnomAD v4: 15-42401791-T-C
• MyVariant Identifiers: chr15:g.42693989T>C (hg19) ; chr15:g.42401791T>C (hg38)
• PubMed: PMID:10330340 ; PMID:22926650 ; PMID:23891399 ; PMID:26810512

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401791T>C , CM000677.2:g.42401791T>C	GRCh38
NC_000015.9:g.42693989T>C , CM000677.1:g.42693989T>C	GRCh37
NC_000015.8:g.40481281T>C	NCBI36
NG_008660.1:g.58689T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1361T>C	ENSP00000183936.4:p.Ile454Thr
ENST00000357568.8:c.1505T>C	ENSP00000350181.3:p.Ile502Thr
ENST00000397163.8:c.1505T>C MANE Select	ENSP00000380349.3:p.Ile502Thr
ENST00000466369.5:n.2014T>C
ENST00000483208.5:n.1736T>C
ENST00000495723.1:n.1736T>C
ENST00000549793.5:n.1736T>C
ENST00000638141.2:n.1376T>C
ENST00000673705.1:c.309+2139T>C	ENSP00000501021.1:n.309+2139T>C
ENST00000318023.11:c.1361T>C	ENSP00000326281.8:p.Ile454Thr
ENST00000349748.7:c.1361T>C	ENSP00000183936.4:p.Ile454Thr
ENST00000357568.7:c.1505T>C	ENSP00000350181.3:p.Ile502Thr
ENST00000397163.7:c.1505T>C	ENSP00000380349.3:p.Ile502Thr
NM_000070.2:c.1505T>C	NP_000061.1:p.Ile502Thr
NM_024344.1:c.1505T>C	NP_077320.1:p.Ile502Thr
NM_173087.1:c.1361T>C	NP_775110.1:p.Ile454Thr
NM_000070.3:c.1505T>C MANE Select	NP_000061.1:p.Ile502Thr
NM_024344.2:c.1505T>C	NP_077320.1:p.Ile502Thr
NM_173087.2:c.1361T>C	NP_775110.1:p.Ile454Thr