Canonical Allele Identifier: CA2172710274
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42388959G= , CM000677.2:g.42388959G= GRCh38
NC_000015.9:g.42681157G= , CM000677.1:g.42681157G= GRCh37
NC_000015.8:g.40468449G= NCBI36
NG_008660.1:g.45857G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.664G= ENSP00000183936.4:p.Gly222=
ENST00000357568.8:c.664G= ENSP00000350181.3:p.Gly222=
ENST00000397163.8:c.664G= MANE Select ENSP00000380349.3:p.Gly222=
ENST00000466369.5:n.1173G=
ENST00000483208.5:n.895G=
ENST00000495723.1:n.895G=
ENST00000549793.5:n.895G=
ENST00000638141.2:n.679G=
ENST00000673705.1:c.70+4407G= ENSP00000501021.1:n.70+4407G=
ENST00000318023.11:c.664G= ENSP00000326281.8:p.Gly222=
ENST00000349748.7:c.664G= ENSP00000183936.4:p.Gly222=
ENST00000357568.7:c.664G= ENSP00000350181.3:p.Gly222=
ENST00000397163.7:c.664G= ENSP00000380349.3:p.Gly222=
NM_000070.2:c.664G= NP_000061.1:p.Gly222=
NM_024344.1:c.664G= NP_077320.1:p.Gly222=
NM_173087.1:c.664G= NP_775110.1:p.Gly222=
NM_000070.3:c.664G= MANE Select NP_000061.1:p.Gly222=
NM_024344.2:c.664G= NP_077320.1:p.Gly222=
NM_173087.2:c.664G= NP_775110.1:p.Gly222=