Canonical Allele Identifier: CA347491

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 217158
• ClinVar RCV Id: RCV000201041 ; RCV000729232 ; RCV003462350 ; RCV003330573
• dbSNP Id: rs758795961
• ExAC: 15:42680018 T / C
• gnomAD v2: 15-42680018-T-C
• gnomAD v3: 15-42387820-T-C
• gnomAD v4: 15-42387820-T-C
• MyVariant Identifiers: chr15:g.42680018T>C (hg19) ; chr15:g.42387820T>C (hg38)
• PubMed: PMID:10330340 ; PMID:11297944 ; PMID:18055493

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42387820T>C , CM000677.2:g.42387820T>C	GRCh38
NC_000015.9:g.42680018T>C , CM000677.1:g.42680018T>C	GRCh37
NC_000015.8:g.40467310T>C	NCBI36
NG_008660.1:g.44718T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.566T>C	ENSP00000183936.4:p.Leu189Pro
ENST00000357568.8:c.566T>C	ENSP00000350181.3:p.Leu189Pro
ENST00000397163.8:c.566T>C MANE Select	ENSP00000380349.3:p.Leu189Pro
ENST00000466369.5:n.1075T>C
ENST00000483208.5:n.797T>C
ENST00000495723.1:n.797T>C
ENST00000549793.5:n.797T>C
ENST00000638141.2:n.581T>C
ENST00000673705.1:c.70+3268T>C	ENSP00000501021.1:n.70+3268T>C
ENST00000318023.11:c.566T>C	ENSP00000326281.8:p.Leu189Pro
ENST00000349748.7:c.566T>C	ENSP00000183936.4:p.Leu189Pro
ENST00000357568.7:c.566T>C	ENSP00000350181.3:p.Leu189Pro
ENST00000397163.7:c.566T>C	ENSP00000380349.3:p.Leu189Pro
NM_000070.2:c.566T>C	NP_000061.1:p.Leu189Pro
NM_024344.1:c.566T>C	NP_077320.1:p.Leu189Pro
NM_173087.1:c.566T>C	NP_775110.1:p.Leu189Pro
NM_000070.3:c.566T>C MANE Select	NP_000061.1:p.Leu189Pro
NM_024344.2:c.566T>C	NP_077320.1:p.Leu189Pro
NM_173087.2:c.566T>C	NP_775110.1:p.Leu189Pro