Canonical Allele Identifier: CA2172714566
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42402913C= , CM000677.2:g.42402913C= GRCh38
NC_000015.9:g.42695111C= , CM000677.1:g.42695111C= GRCh37
NC_000015.8:g.40482403C= NCBI36
NG_008660.1:g.59811C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1512C= ENSP00000183936.4:p.Ser504=
ENST00000357568.8:c.1656C= ENSP00000350181.3:p.Ser552=
ENST00000397163.8:c.1656C= MANE Select ENSP00000380349.3:p.Ser552=
ENST00000466369.5:n.2165C=
ENST00000483208.5:n.2545C=
ENST00000495723.1:n.2545C=
ENST00000549793.5:n.1887C=
ENST00000638141.2:n.1527C=
ENST00000673646.1:c.120C= ENSP00000501007.1:p.Ser40=
ENST00000673705.1:c.309+3261C= ENSP00000501021.1:n.309+3261C=
ENST00000673813.1:n.578C=
ENST00000318023.11:c.1512C= ENSP00000326281.8:p.Ser504=
ENST00000349748.7:c.1512C= ENSP00000183936.4:p.Ser504=
ENST00000357568.7:c.1656C= ENSP00000350181.3:p.Ser552=
ENST00000397163.7:c.1656C= ENSP00000380349.3:p.Ser552=
ENST00000397200.8:c.120C= ENSP00000380384.4:p.Ser40=
ENST00000567071.5:c.115C=
ENST00000569827.5:c.120C= ENSP00000454379.1:p.Ser40=
NM_000070.2:c.1656C= NP_000061.1:p.Ser552=
NM_024344.1:c.1656C= NP_077320.1:p.Ser552=
NM_173087.1:c.1512C= NP_775110.1:p.Ser504=
NM_173088.1:c.120C= NP_775111.1:p.Ser40=
NM_000070.3:c.1656C= MANE Select NP_000061.1:p.Ser552=
NM_024344.2:c.1656C= NP_077320.1:p.Ser552=
NM_173087.2:c.1512C= NP_775110.1:p.Ser504=
NM_173088.2:c.120C= NP_775111.1:p.Ser40=