Canonical Allele Identifier: CA7511356

Gene: CAPN3

Linked Data

• dbSNP Id: rs778381048
• ExAC: 15:42693895 C / G
• gnomAD v2: 15-42693895-C-G
• gnomAD v4: 15-42401697-C-G
• MyVariant Identifiers: chr15:g.42693895C>G (hg19) ; chr15:g.42401697C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401697C>G , CM000677.2:g.42401697C>G	GRCh38
NC_000015.9:g.42693895C>G , CM000677.1:g.42693895C>G	GRCh37
NC_000015.8:g.40481187C>G	NCBI36
NG_008660.1:g.58595C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1267C>G	ENSP00000183936.4:p.Pro423Ala
ENST00000357568.8:c.1411C>G	ENSP00000350181.3:p.Pro471Ala
ENST00000397163.8:c.1411C>G MANE Select	ENSP00000380349.3:p.Pro471Ala
ENST00000466369.5:n.1920C>G
ENST00000483208.5:n.1642C>G
ENST00000495723.1:n.1642C>G
ENST00000549793.5:n.1642C>G
ENST00000638141.2:n.1282C>G
ENST00000673705.1:c.309+2045C>G	ENSP00000501021.1:n.309+2045C>G
ENST00000318023.11:c.1267C>G	ENSP00000326281.8:p.Pro423Ala
ENST00000349748.7:c.1267C>G	ENSP00000183936.4:p.Pro423Ala
ENST00000357568.7:c.1411C>G	ENSP00000350181.3:p.Pro471Ala
ENST00000397163.7:c.1411C>G	ENSP00000380349.3:p.Pro471Ala
NM_000070.2:c.1411C>G	NP_000061.1:p.Pro471Ala
NM_024344.1:c.1411C>G	NP_077320.1:p.Pro471Ala
NM_173087.1:c.1267C>G	NP_775110.1:p.Pro423Ala
NM_000070.3:c.1411C>G MANE Select	NP_000061.1:p.Pro471Ala
NM_024344.2:c.1411C>G	NP_077320.1:p.Pro471Ala
NM_173087.2:c.1267C>G	NP_775110.1:p.Pro423Ala