Canonical Allele Identifier: CA2172710305
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42389024T= , CM000677.2:g.42389024T= GRCh38
NC_000015.9:g.42681222T= , CM000677.1:g.42681222T= GRCh37
NC_000015.8:g.40468514T= NCBI36
NG_008660.1:g.45922T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.729T= ENSP00000183936.4:p.Asp243=
ENST00000357568.8:c.729T= ENSP00000350181.3:p.Asp243=
ENST00000397163.8:c.729T= MANE Select ENSP00000380349.3:p.Asp243=
ENST00000466369.5:n.1238T=
ENST00000483208.5:n.960T=
ENST00000495723.1:n.960T=
ENST00000549793.5:n.960T=
ENST00000638141.2:n.744T=
ENST00000673705.1:c.70+4472T= ENSP00000501021.1:n.70+4472T=
ENST00000318023.11:c.729T= ENSP00000326281.8:p.Asp243=
ENST00000349748.7:c.729T= ENSP00000183936.4:p.Asp243=
ENST00000357568.7:c.729T= ENSP00000350181.3:p.Asp243=
ENST00000397163.7:c.729T= ENSP00000380349.3:p.Asp243=
NM_000070.2:c.729T= NP_000061.1:p.Asp243=
NM_024344.1:c.729T= NP_077320.1:p.Asp243=
NM_173087.1:c.729T= NP_775110.1:p.Asp243=
NM_000070.3:c.729T= MANE Select NP_000061.1:p.Asp243=
NM_024344.2:c.729T= NP_077320.1:p.Asp243=
NM_173087.2:c.729T= NP_775110.1:p.Asp243=