Canonical Allele Identifier: CA2172714758

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402974G= , CM000677.2:g.42402974G=	GRCh38
NC_000015.9:g.42695172G= , CM000677.1:g.42695172G=	GRCh37
NC_000015.8:g.40482464G=	NCBI36
NG_008660.1:g.59872G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1573G=	ENSP00000183936.4:p.Val525=
ENST00000357568.8:c.1717G=	ENSP00000350181.3:p.Val573=
ENST00000397163.8:c.1717G= MANE Select	ENSP00000380349.3:p.Val573=
ENST00000466369.5:n.2226G=
ENST00000483208.5:n.2606G=
ENST00000495723.1:n.2606G=
ENST00000549793.5:n.1948G=
ENST00000638141.2:n.1588G=
ENST00000673646.1:c.181G=	ENSP00000501007.1:p.Val61=
ENST00000673705.1:c.309+3322G=	ENSP00000501021.1:n.309+3322G=
ENST00000673813.1:n.580+59G=
ENST00000318023.11:c.1573G=	ENSP00000326281.8:p.Val525=
ENST00000349748.7:c.1573G=	ENSP00000183936.4:p.Val525=
ENST00000357568.7:c.1717G=	ENSP00000350181.3:p.Val573=
ENST00000397163.7:c.1717G=	ENSP00000380349.3:p.Val573=
ENST00000397200.8:c.181G=	ENSP00000380384.4:p.Val61=
ENST00000567071.5:c.176G=
ENST00000569827.5:c.181G=	ENSP00000454379.1:p.Val61=
NM_000070.2:c.1717G=	NP_000061.1:p.Val573=
NM_024344.1:c.1717G=	NP_077320.1:p.Val573=
NM_173087.1:c.1573G=	NP_775110.1:p.Val525=
NM_173088.1:c.181G=	NP_775111.1:p.Val61=
NM_000070.3:c.1717G= MANE Select	NP_000061.1:p.Val573=
NM_024344.2:c.1717G=	NP_077320.1:p.Val573=
NM_173087.2:c.1573G=	NP_775110.1:p.Val525=
NM_173088.2:c.181G=	NP_775111.1:p.Val61=