Canonical Allele Identifier: CA2172714730

Gene: CAPN3

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1566C=	ENSP00000183936.4:p.Ile522=
ENST00000357568.8:c.1710C=	ENSP00000350181.3:p.Ile570=
ENST00000397163.8:c.1710C= MANE Select	ENSP00000380349.3:p.Ile570=
ENST00000466369.5:n.2219C=
ENST00000483208.5:n.2599C=
ENST00000495723.1:n.2599C=
ENST00000549793.5:n.1941C=
ENST00000638141.2:n.1581C=
ENST00000673646.1:c.174C=	ENSP00000501007.1:p.Ile58=
ENST00000673705.1:c.309+3315C=	ENSP00000501021.1:n.309+3315C=
ENST00000673813.1:n.580+52C=
ENST00000318023.11:c.1566C=	ENSP00000326281.8:p.Ile522=
ENST00000349748.7:c.1566C=	ENSP00000183936.4:p.Ile522=
ENST00000357568.7:c.1710C=	ENSP00000350181.3:p.Ile570=
ENST00000397163.7:c.1710C=	ENSP00000380349.3:p.Ile570=
ENST00000397200.8:c.174C=	ENSP00000380384.4:p.Ile58=
ENST00000567071.5:c.169C=
ENST00000569827.5:c.174C=	ENSP00000454379.1:p.Ile58=
NM_000070.2:c.1710C=	NP_000061.1:p.Ile570=
NM_024344.1:c.1710C=	NP_077320.1:p.Ile570=
NM_173087.1:c.1566C=	NP_775110.1:p.Ile522=
NM_173088.1:c.174C=	NP_775111.1:p.Ile58=
NM_000070.3:c.1710C= MANE Select	NP_000061.1:p.Ile570=
NM_024344.2:c.1710C=	NP_077320.1:p.Ile570=
NM_173087.2:c.1566C=	NP_775110.1:p.Ile522=
NM_173088.2:c.174C=	NP_775111.1:p.Ile58=