Canonical Allele Identifier: CA7511471

Gene: CAPN3

Linked Data

• dbSNP Id: rs766893323
• ExAC: 15:42695165 C / G
• gnomAD v2: 15-42695165-C-G
• MyVariant Identifiers: chr15:g.42695165C>G (hg19) ; chr15:g.42402967C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402967C>G , CM000677.2:g.42402967C>G	GRCh38
NC_000015.9:g.42695165C>G , CM000677.1:g.42695165C>G	GRCh37
NC_000015.8:g.40482457C>G	NCBI36
NG_008660.1:g.59865C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1566C>G	ENSP00000183936.4:p.Ile522Met
ENST00000357568.8:c.1710C>G	ENSP00000350181.3:p.Ile570Met
ENST00000397163.8:c.1710C>G MANE Select	ENSP00000380349.3:p.Ile570Met
ENST00000466369.5:n.2219C>G
ENST00000483208.5:n.2599C>G
ENST00000495723.1:n.2599C>G
ENST00000549793.5:n.1941C>G
ENST00000638141.2:n.1581C>G
ENST00000673646.1:c.174C>G	ENSP00000501007.1:p.Ile58Met
ENST00000673705.1:c.309+3315C>G	ENSP00000501021.1:n.309+3315C>G
ENST00000673813.1:n.580+52C>G
ENST00000318023.11:c.1566C>G	ENSP00000326281.8:p.Ile522Met
ENST00000349748.7:c.1566C>G	ENSP00000183936.4:p.Ile522Met
ENST00000357568.7:c.1710C>G	ENSP00000350181.3:p.Ile570Met
ENST00000397163.7:c.1710C>G	ENSP00000380349.3:p.Ile570Met
ENST00000397200.8:c.174C>G	ENSP00000380384.4:p.Ile58Met
ENST00000567071.5:c.169C>G
ENST00000569827.5:c.174C>G	ENSP00000454379.1:p.Ile58Met
NM_000070.2:c.1710C>G	NP_000061.1:p.Ile570Met
NM_024344.1:c.1710C>G	NP_077320.1:p.Ile570Met
NM_173087.1:c.1566C>G	NP_775110.1:p.Ile522Met
NM_173088.1:c.174C>G	NP_775111.1:p.Ile58Met
NM_000070.3:c.1710C>G MANE Select	NP_000061.1:p.Ile570Met
NM_024344.2:c.1710C>G	NP_077320.1:p.Ile570Met
NM_173087.2:c.1566C>G	NP_775110.1:p.Ile522Met
NM_173088.2:c.174C>G	NP_775111.1:p.Ile58Met