Canonical Allele Identifier: CA2172714644

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402943G= , CM000677.2:g.42402943G=	GRCh38
NC_000015.9:g.42695141G= , CM000677.1:g.42695141G=	GRCh37
NC_000015.8:g.40482433G=	NCBI36
NG_008660.1:g.59841G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1542G=	ENSP00000183936.4:p.Glu514=
ENST00000357568.8:c.1686G=	ENSP00000350181.3:p.Glu562=
ENST00000397163.8:c.1686G= MANE Select	ENSP00000380349.3:p.Glu562=
ENST00000466369.5:n.2195G=
ENST00000483208.5:n.2575G=
ENST00000495723.1:n.2575G=
ENST00000549793.5:n.1917G=
ENST00000638141.2:n.1557G=
ENST00000673646.1:c.150G=	ENSP00000501007.1:p.Glu50=
ENST00000673705.1:c.309+3291G=	ENSP00000501021.1:n.309+3291G=
ENST00000673813.1:n.580+28G=
ENST00000318023.11:c.1542G=	ENSP00000326281.8:p.Glu514=
ENST00000349748.7:c.1542G=	ENSP00000183936.4:p.Glu514=
ENST00000357568.7:c.1686G=	ENSP00000350181.3:p.Glu562=
ENST00000397163.7:c.1686G=	ENSP00000380349.3:p.Glu562=
ENST00000397200.8:c.150G=	ENSP00000380384.4:p.Glu50=
ENST00000567071.5:c.145G=
ENST00000569827.5:c.150G=	ENSP00000454379.1:p.Glu50=
NM_000070.2:c.1686G=	NP_000061.1:p.Glu562=
NM_024344.1:c.1686G=	NP_077320.1:p.Glu562=
NM_173087.1:c.1542G=	NP_775110.1:p.Glu514=
NM_173088.1:c.150G=	NP_775111.1:p.Glu50=
NM_000070.3:c.1686G= MANE Select	NP_000061.1:p.Glu562=
NM_024344.2:c.1686G=	NP_077320.1:p.Glu562=
NM_173087.2:c.1542G=	NP_775110.1:p.Glu514=
NM_173088.2:c.150G=	NP_775111.1:p.Glu50=