Canonical Allele Identifier: CA10606744

Gene: CAPN3

Linked Data

• ClinVar Variation Id: 290348
• ClinVar RCV Id: RCV000298797 ; RCV000812975
• dbSNP Id: rs752848213
• gnomAD v4: 15-42402919-C-G
• MyVariant Identifiers: chr15:g.42695117C>G (hg19) ; chr15:g.42402919C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402919C>G , CM000677.2:g.42402919C>G	GRCh38
NC_000015.9:g.42695117C>G , CM000677.1:g.42695117C>G	GRCh37
NC_000015.8:g.40482409C>G	NCBI36
NG_008660.1:g.59817C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1518C>G	ENSP00000183936.4:p.Tyr506Ter
ENST00000357568.8:c.1662C>G	ENSP00000350181.3:p.Tyr554Ter
ENST00000397163.8:c.1662C>G MANE Select	ENSP00000380349.3:p.Tyr554Ter
ENST00000466369.5:n.2171C>G
ENST00000483208.5:n.2551C>G
ENST00000495723.1:n.2551C>G
ENST00000549793.5:n.1893C>G
ENST00000638141.2:n.1533C>G
ENST00000673646.1:c.126C>G	ENSP00000501007.1:p.Tyr42Ter
ENST00000673705.1:c.309+3267C>G	ENSP00000501021.1:n.309+3267C>G
ENST00000673813.1:n.580+4C>G
ENST00000318023.11:c.1518C>G	ENSP00000326281.8:p.Tyr506Ter
ENST00000349748.7:c.1518C>G	ENSP00000183936.4:p.Tyr506Ter
ENST00000357568.7:c.1662C>G	ENSP00000350181.3:p.Tyr554Ter
ENST00000397163.7:c.1662C>G	ENSP00000380349.3:p.Tyr554Ter
ENST00000397200.8:c.126C>G	ENSP00000380384.4:p.Tyr42Ter
ENST00000567071.5:c.121C>G
ENST00000569827.5:c.126C>G	ENSP00000454379.1:p.Tyr42Ter
NM_000070.2:c.1662C>G	NP_000061.1:p.Tyr554Ter
NM_024344.1:c.1662C>G	NP_077320.1:p.Tyr554Ter
NM_173087.1:c.1518C>G	NP_775110.1:p.Tyr506Ter
NM_173088.1:c.126C>G	NP_775111.1:p.Tyr42Ter
NM_000070.3:c.1662C>G MANE Select	NP_000061.1:p.Tyr554Ter
NM_024344.2:c.1662C>G	NP_077320.1:p.Tyr554Ter
NM_173087.2:c.1518C>G	NP_775110.1:p.Tyr506Ter
NM_173088.2:c.126C>G	NP_775111.1:p.Tyr42Ter