Canonical Allele Identifier: CA392000162
Gene: CAPN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42402833C>A , CM000677.2:g.42402833C>A GRCh38
NC_000015.9:g.42695031C>A , CM000677.1:g.42695031C>A GRCh37
NC_000015.8:g.40482323C>A NCBI36
NG_008660.1:g.59731C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349748.8:c.1432C>A ENSP00000183936.4:p.Leu478Met
ENST00000357568.8:c.1576C>A ENSP00000350181.3:p.Leu526Met
ENST00000397163.8:c.1576C>A MANE Select ENSP00000380349.3:p.Leu526Met
ENST00000466369.5:n.2085C>A
ENST00000483208.5:n.2465C>A
ENST00000495723.1:n.2465C>A
ENST00000549793.5:n.1807C>A
ENST00000638141.2:n.1447C>A
ENST00000673646.1:c.40C>A ENSP00000501007.1:p.Leu14Met
ENST00000673705.1:c.309+3181C>A ENSP00000501021.1:n.309+3181C>A
ENST00000673813.1:n.498C>A
ENST00000318023.11:c.1432C>A ENSP00000326281.8:p.Leu478Met
ENST00000349748.7:c.1432C>A ENSP00000183936.4:p.Leu478Met
ENST00000357568.7:c.1576C>A ENSP00000350181.3:p.Leu526Met
ENST00000397163.7:c.1576C>A ENSP00000380349.3:p.Leu526Met
ENST00000397200.8:c.40C>A ENSP00000380384.4:p.Leu14Met
ENST00000567071.5:c.35C>A
ENST00000569827.5:c.40C>A ENSP00000454379.1:p.Leu14Met
NM_000070.2:c.1576C>A NP_000061.1:p.Leu526Met
NM_024344.1:c.1576C>A NP_077320.1:p.Leu526Met
NM_173087.1:c.1432C>A NP_775110.1:p.Leu478Met
NM_173088.1:c.40C>A NP_775111.1:p.Leu14Met
NM_000070.3:c.1576C>A MANE Select NP_000061.1:p.Leu526Met
NM_024344.2:c.1576C>A NP_077320.1:p.Leu526Met
NM_173087.2:c.1432C>A NP_775110.1:p.Leu478Met
NM_173088.2:c.40C>A NP_775111.1:p.Leu14Met