Canonical Allele Identifier: CA2172719052

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42401736C= , CM000677.2:g.42401736C=	GRCh38
NC_000015.9:g.42693934C= , CM000677.1:g.42693934C=	GRCh37
NC_000015.8:g.40481226C=	NCBI36
NG_008660.1:g.58634C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1306C=	ENSP00000183936.4:p.Leu436=
ENST00000357568.8:c.1450C=	ENSP00000350181.3:p.Leu484=
ENST00000397163.8:c.1450C= MANE Select	ENSP00000380349.3:p.Leu484=
ENST00000466369.5:n.1959C=
ENST00000483208.5:n.1681C=
ENST00000495723.1:n.1681C=
ENST00000549793.5:n.1681C=
ENST00000638141.2:n.1321C=
ENST00000673705.1:c.309+2084C=	ENSP00000501021.1:n.309+2084C=
ENST00000318023.11:c.1306C=	ENSP00000326281.8:p.Leu436=
ENST00000349748.7:c.1306C=	ENSP00000183936.4:p.Leu436=
ENST00000357568.7:c.1450C=	ENSP00000350181.3:p.Leu484=
ENST00000397163.7:c.1450C=	ENSP00000380349.3:p.Leu484=
NM_000070.2:c.1450C=	NP_000061.1:p.Leu484=
NM_024344.1:c.1450C=	NP_077320.1:p.Leu484=
NM_173087.1:c.1306C=	NP_775110.1:p.Leu436=
NM_000070.3:c.1450C= MANE Select	NP_000061.1:p.Leu484=
NM_024344.2:c.1450C=	NP_077320.1:p.Leu484=
NM_173087.2:c.1306C=	NP_775110.1:p.Leu436=