Canonical Allele Identifier: CA341470

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 17614
• ClinVar RCV Id: RCV000726518 ; RCV001198825 ; RCV003323362 ; RCV000019180
• dbSNP Id: rs121434544
• ExAC: 15:42695170 G / A
• gnomAD v2: 15-42695170-G-A
• gnomAD v3: 15-42402972-G-A
• gnomAD v4: 15-42402972-G-A
• MyVariant Identifiers: chr15:g.42695170G>A (hg19) ; chr15:g.42402972G>A (hg38)
• PubMed: PMID:7720071 ; PMID:8624690 ; PMID:9642272 ; PMID:10102422 ; PMID:16650086

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402972G>A , CM000677.2:g.42402972G>A	GRCh38
NC_000015.9:g.42695170G>A , CM000677.1:g.42695170G>A	GRCh37
NC_000015.8:g.40482462G>A	NCBI36
NG_008660.1:g.59870G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1571G>A	ENSP00000183936.4:p.Arg524Gln
ENST00000357568.8:c.1715G>A	ENSP00000350181.3:p.Arg572Gln
ENST00000397163.8:c.1715G>A MANE Select	ENSP00000380349.3:p.Arg572Gln
ENST00000466369.5:n.2224G>A
ENST00000483208.5:n.2604G>A
ENST00000495723.1:n.2604G>A
ENST00000549793.5:n.1946G>A
ENST00000638141.2:n.1586G>A
ENST00000673646.1:c.179G>A	ENSP00000501007.1:p.Arg60Gln
ENST00000673705.1:c.309+3320G>A	ENSP00000501021.1:n.309+3320G>A
ENST00000673813.1:n.580+57G>A
ENST00000318023.11:c.1571G>A	ENSP00000326281.8:p.Arg524Gln
ENST00000349748.7:c.1571G>A	ENSP00000183936.4:p.Arg524Gln
ENST00000357568.7:c.1715G>A	ENSP00000350181.3:p.Arg572Gln
ENST00000397163.7:c.1715G>A	ENSP00000380349.3:p.Arg572Gln
ENST00000397200.8:c.179G>A	ENSP00000380384.4:p.Arg60Gln
ENST00000567071.5:c.174G>A
ENST00000569827.5:c.179G>A	ENSP00000454379.1:p.Arg60Gln
NM_000070.2:c.1715G>A	NP_000061.1:p.Arg572Gln
NM_024344.1:c.1715G>A	NP_077320.1:p.Arg572Gln
NM_173087.1:c.1571G>A	NP_775110.1:p.Arg524Gln
NM_173088.1:c.179G>A	NP_775111.1:p.Arg60Gln
NM_000070.3:c.1715G>A MANE Select	NP_000061.1:p.Arg572Gln
NM_024344.2:c.1715G>A	NP_077320.1:p.Arg572Gln
NM_173087.2:c.1571G>A	NP_775110.1:p.Arg524Gln
NM_173088.2:c.179G>A	NP_775111.1:p.Arg60Gln