Canonical Allele Identifier: CA2172710312

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42389034G= , CM000677.2:g.42389034G=	GRCh38
NC_000015.9:g.42681232G= , CM000677.1:g.42681232G=	GRCh37
NC_000015.8:g.40468524G=	NCBI36
NG_008660.1:g.45932G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.739G=	ENSP00000183936.4:p.Asp247=
ENST00000357568.8:c.739G=	ENSP00000350181.3:p.Asp247=
ENST00000397163.8:c.739G= MANE Select	ENSP00000380349.3:p.Asp247=
ENST00000466369.5:n.1248G=
ENST00000483208.5:n.970G=
ENST00000495723.1:n.970G=
ENST00000549793.5:n.970G=
ENST00000638141.2:n.754G=
ENST00000673705.1:c.70+4482G=	ENSP00000501021.1:n.70+4482G=
ENST00000318023.11:c.739G=	ENSP00000326281.8:p.Asp247=
ENST00000349748.7:c.739G=	ENSP00000183936.4:p.Asp247=
ENST00000357568.7:c.739G=	ENSP00000350181.3:p.Asp247=
ENST00000397163.7:c.739G=	ENSP00000380349.3:p.Asp247=
NM_000070.2:c.739G=	NP_000061.1:p.Asp247=
NM_024344.1:c.739G=	NP_077320.1:p.Asp247=
NM_173087.1:c.739G=	NP_775110.1:p.Asp247=
NM_000070.3:c.739G= MANE Select	NP_000061.1:p.Asp247=
NM_024344.2:c.739G=	NP_077320.1:p.Asp247=
NM_173087.2:c.739G=	NP_775110.1:p.Asp247=