Canonical Allele Identifier: CA2172719027

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401713T= , CM000677.2:g.42401713T=	GRCh38
NC_000015.9:g.42693911T= , CM000677.1:g.42693911T=	GRCh37
NC_000015.8:g.40481203T=	NCBI36
NG_008660.1:g.58611T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1283T=	ENSP00000183936.4:p.Val428=
ENST00000357568.8:c.1427T=	ENSP00000350181.3:p.Val476=
ENST00000397163.8:c.1427T= MANE Select	ENSP00000380349.3:p.Val476=
ENST00000466369.5:n.1936T=
ENST00000483208.5:n.1658T=
ENST00000495723.1:n.1658T=
ENST00000549793.5:n.1658T=
ENST00000638141.2:n.1298T=
ENST00000673705.1:c.309+2061T=	ENSP00000501021.1:n.309+2061T=
ENST00000318023.11:c.1283T=	ENSP00000326281.8:p.Val428=
ENST00000349748.7:c.1283T=	ENSP00000183936.4:p.Val428=
ENST00000357568.7:c.1427T=	ENSP00000350181.3:p.Val476=
ENST00000397163.7:c.1427T=	ENSP00000380349.3:p.Val476=
NM_000070.2:c.1427T=	NP_000061.1:p.Val476=
NM_024344.1:c.1427T=	NP_077320.1:p.Val476=
NM_173087.1:c.1283T=	NP_775110.1:p.Val428=
NM_000070.3:c.1427T= MANE Select	NP_000061.1:p.Val476=
NM_024344.2:c.1427T=	NP_077320.1:p.Val476=
NM_173087.2:c.1283T=	NP_775110.1:p.Val428=