Canonical Allele Identifier: CA2172697441
Gene: CAPN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42360072T= , CM000677.2:g.42360072T= GRCh38
NC_000015.9:g.42652270T= , CM000677.1:g.42652270T= GRCh37
NC_000015.8:g.40439562T= NCBI36
NG_008660.1:g.16970T=

Transcript Alleles

HGVS Amino-acid change
ENST00000349748.8:c.267T= ENSP00000183936.4:p.Tyr89=
ENST00000357568.8:c.267T= ENSP00000350181.3:p.Tyr89=
ENST00000397163.8:c.267T= MANE Select ENSP00000380349.3:p.Tyr89=
ENST00000466369.5:n.540+5619T=
ENST00000483208.5:n.540+5619T=
ENST00000495723.1:n.540+5619T=
ENST00000549793.5:n.540+5619T=
ENST00000318023.11:c.267T= ENSP00000326281.8:p.Tyr89=
ENST00000349748.7:c.267T= ENSP00000183936.4:p.Tyr89=
ENST00000357568.7:c.267T= ENSP00000350181.3:p.Tyr89=
ENST00000397163.7:c.267T= ENSP00000380349.3:p.Tyr89=
NM_000070.2:c.267T= NP_000061.1:p.Tyr89=
NM_024344.1:c.267T= NP_077320.1:p.Tyr89=
NM_173087.1:c.267T= NP_775110.1:p.Tyr89=
NM_000070.3:c.267T= MANE Select NP_000061.1:p.Tyr89=
NM_024344.2:c.267T= NP_077320.1:p.Tyr89=
NM_173087.2:c.267T= NP_775110.1:p.Tyr89=