Canonical Allele Identifier: CA2172714721

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402964C= , CM000677.2:g.42402964C=	GRCh38
NC_000015.9:g.42695162C= , CM000677.1:g.42695162C=	GRCh37
NC_000015.8:g.40482454C=	NCBI36
NG_008660.1:g.59862C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1563C=	ENSP00000183936.4:p.Phe521=
ENST00000357568.8:c.1707C=	ENSP00000350181.3:p.Phe569=
ENST00000397163.8:c.1707C= MANE Select	ENSP00000380349.3:p.Phe569=
ENST00000466369.5:n.2216C=
ENST00000483208.5:n.2596C=
ENST00000495723.1:n.2596C=
ENST00000549793.5:n.1938C=
ENST00000638141.2:n.1578C=
ENST00000673646.1:c.171C=	ENSP00000501007.1:p.Phe57=
ENST00000673705.1:c.309+3312C=	ENSP00000501021.1:n.309+3312C=
ENST00000673813.1:n.580+49C=
ENST00000318023.11:c.1563C=	ENSP00000326281.8:p.Phe521=
ENST00000349748.7:c.1563C=	ENSP00000183936.4:p.Phe521=
ENST00000357568.7:c.1707C=	ENSP00000350181.3:p.Phe569=
ENST00000397163.7:c.1707C=	ENSP00000380349.3:p.Phe569=
ENST00000397200.8:c.171C=	ENSP00000380384.4:p.Phe57=
ENST00000567071.5:c.166C=
ENST00000569827.5:c.171C=	ENSP00000454379.1:p.Phe57=
NM_000070.2:c.1707C=	NP_000061.1:p.Phe569=
NM_024344.1:c.1707C=	NP_077320.1:p.Phe569=
NM_173087.1:c.1563C=	NP_775110.1:p.Phe521=
NM_173088.1:c.171C=	NP_775111.1:p.Phe57=
NM_000070.3:c.1707C= MANE Select	NP_000061.1:p.Phe569=
NM_024344.2:c.1707C=	NP_077320.1:p.Phe569=
NM_173087.2:c.1563C=	NP_775110.1:p.Phe521=
NM_173088.2:c.171C=	NP_775111.1:p.Phe57=