Canonical Allele Identifier: CA2172714672
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42402954A= , CM000677.2:g.42402954A= GRCh38
NC_000015.9:g.42695152A= , CM000677.1:g.42695152A= GRCh37
NC_000015.8:g.40482444A= NCBI36
NG_008660.1:g.59852A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1553A= ENSP00000183936.4:p.Glu518=
ENST00000357568.8:c.1697A= ENSP00000350181.3:p.Glu566=
ENST00000397163.8:c.1697A= MANE Select ENSP00000380349.3:p.Glu566=
ENST00000466369.5:n.2206A=
ENST00000483208.5:n.2586A=
ENST00000495723.1:n.2586A=
ENST00000549793.5:n.1928A=
ENST00000638141.2:n.1568A=
ENST00000673646.1:c.161A= ENSP00000501007.1:p.Glu54=
ENST00000673705.1:c.309+3302A= ENSP00000501021.1:n.309+3302A=
ENST00000673813.1:n.580+39A=
ENST00000318023.11:c.1553A= ENSP00000326281.8:p.Glu518=
ENST00000349748.7:c.1553A= ENSP00000183936.4:p.Glu518=
ENST00000357568.7:c.1697A= ENSP00000350181.3:p.Glu566=
ENST00000397163.7:c.1697A= ENSP00000380349.3:p.Glu566=
ENST00000397200.8:c.161A= ENSP00000380384.4:p.Glu54=
ENST00000567071.5:c.156A=
ENST00000569827.5:c.161A= ENSP00000454379.1:p.Glu54=
NM_000070.2:c.1697A= NP_000061.1:p.Glu566=
NM_024344.1:c.1697A= NP_077320.1:p.Glu566=
NM_173087.1:c.1553A= NP_775110.1:p.Glu518=
NM_173088.1:c.161A= NP_775111.1:p.Glu54=
NM_000070.3:c.1697A= MANE Select NP_000061.1:p.Glu566=
NM_024344.2:c.1697A= NP_077320.1:p.Glu566=
NM_173087.2:c.1553A= NP_775110.1:p.Glu518=
NM_173088.2:c.161A= NP_775111.1:p.Glu54=