Canonical Allele Identifier: CA347568

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 217145
• ClinVar RCV Id: RCV000201159 ; RCV000710091 ; RCV001814104 ; RCV003462345
• dbSNP Id: rs775453643
• ExAC: 15:42688999 T / C
• gnomAD v4: 15-42396801-T-C
• MyVariant Identifiers: chr15:g.42688999T>C (hg19) ; chr15:g.42396801T>C (hg38)
• PubMed: PMID:16627476 ; PMID:18258189 ; PMID:18337726 ; PMID:22443334

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42396801T>C , CM000677.2:g.42396801T>C	GRCh38
NC_000015.9:g.42688999T>C , CM000677.1:g.42688999T>C	GRCh37
NC_000015.8:g.40476291T>C	NCBI36
NG_008660.1:g.53699T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.973T>C	ENSP00000183936.4:p.Trp325Arg
ENST00000357568.8:c.1117T>C	ENSP00000350181.3:p.Trp373Arg
ENST00000397163.8:c.1117T>C MANE Select	ENSP00000380349.3:p.Trp373Arg
ENST00000466369.5:n.1626T>C
ENST00000483208.5:n.1348T>C
ENST00000495723.1:n.1348T>C
ENST00000549793.5:n.1348T>C
ENST00000638141.2:n.988T>C
ENST00000673658.1:n.101T>C
ENST00000673705.1:c.72T>C	ENSP00000501021.1:p.Asp24=
ENST00000318023.11:c.973T>C	ENSP00000326281.8:p.Trp325Arg
ENST00000349748.7:c.973T>C	ENSP00000183936.4:p.Trp325Arg
ENST00000357568.7:c.1117T>C	ENSP00000350181.3:p.Trp373Arg
ENST00000397163.7:c.1117T>C	ENSP00000380349.3:p.Trp373Arg
NM_000070.2:c.1117T>C	NP_000061.1:p.Trp373Arg
NM_024344.1:c.1117T>C	NP_077320.1:p.Trp373Arg
NM_173087.1:c.973T>C	NP_775110.1:p.Trp325Arg
NM_000070.3:c.1117T>C MANE Select	NP_000061.1:p.Trp373Arg
NM_024344.2:c.1117T>C	NP_077320.1:p.Trp373Arg
NM_173087.2:c.973T>C	NP_775110.1:p.Trp325Arg