Canonical Allele Identifier: CA391999819
Gene: CAPN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42401711G>T , CM000677.2:g.42401711G>T GRCh38
NC_000015.9:g.42693909G>T , CM000677.1:g.42693909G>T GRCh37
NC_000015.8:g.40481201G>T NCBI36
NG_008660.1:g.58609G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1281G>T ENSP00000183936.4:p.Glu427Asp
ENST00000357568.8:c.1425G>T ENSP00000350181.3:p.Glu475Asp
ENST00000397163.8:c.1425G>T MANE Select ENSP00000380349.3:p.Glu475Asp
ENST00000466369.5:n.1934G>T
ENST00000483208.5:n.1656G>T
ENST00000495723.1:n.1656G>T
ENST00000549793.5:n.1656G>T
ENST00000638141.2:n.1296G>T
ENST00000673705.1:c.309+2059G>T ENSP00000501021.1:n.309+2059G>T
ENST00000318023.11:c.1281G>T ENSP00000326281.8:p.Glu427Asp
ENST00000349748.7:c.1281G>T ENSP00000183936.4:p.Glu427Asp
ENST00000357568.7:c.1425G>T ENSP00000350181.3:p.Glu475Asp
ENST00000397163.7:c.1425G>T ENSP00000380349.3:p.Glu475Asp
NM_000070.2:c.1425G>T NP_000061.1:p.Glu475Asp
NM_024344.1:c.1425G>T NP_077320.1:p.Glu475Asp
NM_173087.1:c.1281G>T NP_775110.1:p.Glu427Asp
NM_000070.3:c.1425G>T MANE Select NP_000061.1:p.Glu475Asp
NM_024344.2:c.1425G>T NP_077320.1:p.Glu475Asp
NM_173087.2:c.1281G>T NP_775110.1:p.Glu427Asp