Canonical Allele Identifier: CA2172719024

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401708G= , CM000677.2:g.42401708G=	GRCh38
NC_000015.9:g.42693906G= , CM000677.1:g.42693906G=	GRCh37
NC_000015.8:g.40481198G=	NCBI36
NG_008660.1:g.58606G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1278G=	ENSP00000183936.4:p.Ser426=
ENST00000357568.8:c.1422G=	ENSP00000350181.3:p.Ser474=
ENST00000397163.8:c.1422G= MANE Select	ENSP00000380349.3:p.Ser474=
ENST00000466369.5:n.1931G=
ENST00000483208.5:n.1653G=
ENST00000495723.1:n.1653G=
ENST00000549793.5:n.1653G=
ENST00000638141.2:n.1293G=
ENST00000673705.1:c.309+2056G=	ENSP00000501021.1:n.309+2056G=
ENST00000318023.11:c.1278G=	ENSP00000326281.8:p.Ser426=
ENST00000349748.7:c.1278G=	ENSP00000183936.4:p.Ser426=
ENST00000357568.7:c.1422G=	ENSP00000350181.3:p.Ser474=
ENST00000397163.7:c.1422G=	ENSP00000380349.3:p.Ser474=
NM_000070.2:c.1422G=	NP_000061.1:p.Ser474=
NM_024344.1:c.1422G=	NP_077320.1:p.Ser474=
NM_173087.1:c.1278G=	NP_775110.1:p.Ser426=
NM_000070.3:c.1422G= MANE Select	NP_000061.1:p.Ser474=
NM_024344.2:c.1422G=	NP_077320.1:p.Ser474=
NM_173087.2:c.1278G=	NP_775110.1:p.Ser426=