Canonical Allele Identifier: CA2172719170

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401804C= , CM000677.2:g.42401804C=	GRCh38
NC_000015.9:g.42694002C= , CM000677.1:g.42694002C=	GRCh37
NC_000015.8:g.40481294C=	NCBI36
NG_008660.1:g.58702C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1374C=	ENSP00000183936.4:p.Ile458=
ENST00000357568.8:c.1518C=	ENSP00000350181.3:p.Ile506=
ENST00000397163.8:c.1518C= MANE Select	ENSP00000380349.3:p.Ile506=
ENST00000466369.5:n.2027C=
ENST00000483208.5:n.1749C=
ENST00000495723.1:n.1749C=
ENST00000549793.5:n.1749C=
ENST00000638141.2:n.1389C=
ENST00000673705.1:c.309+2152C=	ENSP00000501021.1:n.309+2152C=
ENST00000318023.11:c.1374C=	ENSP00000326281.8:p.Ile458=
ENST00000349748.7:c.1374C=	ENSP00000183936.4:p.Ile458=
ENST00000357568.7:c.1518C=	ENSP00000350181.3:p.Ile506=
ENST00000397163.7:c.1518C=	ENSP00000380349.3:p.Ile506=
NM_000070.2:c.1518C=	NP_000061.1:p.Ile506=
NM_024344.1:c.1518C=	NP_077320.1:p.Ile506=
NM_173087.1:c.1374C=	NP_775110.1:p.Ile458=
NM_000070.3:c.1518C= MANE Select	NP_000061.1:p.Ile506=
NM_024344.2:c.1518C=	NP_077320.1:p.Ile506=
NM_173087.2:c.1374C=	NP_775110.1:p.Ile458=