Canonical Allele Identifier: CA2172719065
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42401746A= , CM000677.2:g.42401746A= GRCh38
NC_000015.9:g.42693944A= , CM000677.1:g.42693944A= GRCh37
NC_000015.8:g.40481236A= NCBI36
NG_008660.1:g.58644A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1316A= ENSP00000183936.4:p.Lys439=
ENST00000357568.8:c.1460A= ENSP00000350181.3:p.Lys487=
ENST00000397163.8:c.1460A= MANE Select ENSP00000380349.3:p.Lys487=
ENST00000466369.5:n.1969A=
ENST00000483208.5:n.1691A=
ENST00000495723.1:n.1691A=
ENST00000549793.5:n.1691A=
ENST00000638141.2:n.1331A=
ENST00000673705.1:c.309+2094A= ENSP00000501021.1:n.309+2094A=
ENST00000318023.11:c.1316A= ENSP00000326281.8:p.Lys439=
ENST00000349748.7:c.1316A= ENSP00000183936.4:p.Lys439=
ENST00000357568.7:c.1460A= ENSP00000350181.3:p.Lys487=
ENST00000397163.7:c.1460A= ENSP00000380349.3:p.Lys487=
NM_000070.2:c.1460A= NP_000061.1:p.Lys487=
NM_024344.1:c.1460A= NP_077320.1:p.Lys487=
NM_173087.1:c.1316A= NP_775110.1:p.Lys439=
NM_000070.3:c.1460A= MANE Select NP_000061.1:p.Lys487=
NM_024344.2:c.1460A= NP_077320.1:p.Lys487=
NM_173087.2:c.1316A= NP_775110.1:p.Lys439=