Canonical Allele Identifier: CA391998310

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 1507710
• ClinVar RCV Id: RCV002048143
• dbSNP Id: rs2053483911
• MyVariant Identifiers: chr15:g.42681247A>G (hg19) ; chr15:g.42389049A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389049A>G , CM000677.2:g.42389049A>G	GRCh38
NC_000015.9:g.42681247A>G , CM000677.1:g.42681247A>G	GRCh37
NC_000015.8:g.40468539A>G	NCBI36
NG_008660.1:g.45947A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.754A>G	ENSP00000183936.4:p.Met252Val
ENST00000357568.8:c.754A>G	ENSP00000350181.3:p.Met252Val
ENST00000397163.8:c.754A>G MANE Select	ENSP00000380349.3:p.Met252Val
ENST00000466369.5:n.1263A>G
ENST00000483208.5:n.985A>G
ENST00000495723.1:n.985A>G
ENST00000549793.5:n.985A>G
ENST00000638141.2:n.769A>G
ENST00000673705.1:c.70+4497A>G	ENSP00000501021.1:n.70+4497A>G
ENST00000318023.11:c.754A>G	ENSP00000326281.8:p.Met252Val
ENST00000349748.7:c.754A>G	ENSP00000183936.4:p.Met252Val
ENST00000357568.7:c.754A>G	ENSP00000350181.3:p.Met252Val
ENST00000397163.7:c.754A>G	ENSP00000380349.3:p.Met252Val
NM_000070.2:c.754A>G	NP_000061.1:p.Met252Val
NM_024344.1:c.754A>G	NP_077320.1:p.Met252Val
NM_173087.1:c.754A>G	NP_775110.1:p.Met252Val
NM_000070.3:c.754A>G MANE Select	NP_000061.1:p.Met252Val
NM_024344.2:c.754A>G	NP_077320.1:p.Met252Val
NM_173087.2:c.754A>G	NP_775110.1:p.Met252Val