Canonical Allele Identifier: CA2172714649
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42402944C= , CM000677.2:g.42402944C= GRCh38
NC_000015.9:g.42695142C= , CM000677.1:g.42695142C= GRCh37
NC_000015.8:g.40482434C= NCBI36
NG_008660.1:g.59842C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1543C= ENSP00000183936.4:p.Pro515=
ENST00000357568.8:c.1687C= ENSP00000350181.3:p.Pro563=
ENST00000397163.8:c.1687C= MANE Select ENSP00000380349.3:p.Pro563=
ENST00000466369.5:n.2196C=
ENST00000483208.5:n.2576C=
ENST00000495723.1:n.2576C=
ENST00000549793.5:n.1918C=
ENST00000638141.2:n.1558C=
ENST00000673646.1:c.151C= ENSP00000501007.1:p.Pro51=
ENST00000673705.1:c.309+3292C= ENSP00000501021.1:n.309+3292C=
ENST00000673813.1:n.580+29C=
ENST00000318023.11:c.1543C= ENSP00000326281.8:p.Pro515=
ENST00000349748.7:c.1543C= ENSP00000183936.4:p.Pro515=
ENST00000357568.7:c.1687C= ENSP00000350181.3:p.Pro563=
ENST00000397163.7:c.1687C= ENSP00000380349.3:p.Pro563=
ENST00000397200.8:c.151C= ENSP00000380384.4:p.Pro51=
ENST00000567071.5:c.146C=
ENST00000569827.5:c.151C= ENSP00000454379.1:p.Pro51=
NM_000070.2:c.1687C= NP_000061.1:p.Pro563=
NM_024344.1:c.1687C= NP_077320.1:p.Pro563=
NM_173087.1:c.1543C= NP_775110.1:p.Pro515=
NM_173088.1:c.151C= NP_775111.1:p.Pro51=
NM_000070.3:c.1687C= MANE Select NP_000061.1:p.Pro563=
NM_024344.2:c.1687C= NP_077320.1:p.Pro563=
NM_173087.2:c.1543C= NP_775110.1:p.Pro515=
NM_173088.2:c.151C= NP_775111.1:p.Pro51=