Canonical Allele Identifier: CA405219684
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387438T>C , CM000681.2:g.33387438T>C GRCh38
NC_000019.9:g.33878344T>C , CM000681.1:g.33878344T>C GRCh37
NC_000019.8:g.38570184T>C NCBI36
NG_013358.1:g.139456A>G
NG_013358.2:g.139456A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1454A>G ENSP00000468516.4:p.Glu485Gly
ENST00000651901.2:c.1478A>G ENSP00000498922.2:p.Glu493Gly
ENST00000698359.1:c.1343A>G ENSP00000513682.1:p.Glu448Gly
ENST00000698360.1:c.1439A>G ENSP00000513683.1:p.Glu480Gly
ENST00000698361.1:c.*16A>G ENSP00000513684.1:n.*16A>G
ENST00000698362.1:c.*525A>G ENSP00000513685.1:n.*525A>G
ENST00000698426.1:c.1067A>G ENSP00000513713.1:p.Glu356Gly
ENST00000698427.1:c.1430A>G ENSP00000513714.1:p.Glu477Gly
ENST00000698428.1:c.1067A>G ENSP00000513715.1:p.Glu356Gly
ENST00000698429.1:n.1271A>G
ENST00000698430.1:c.1638A>G
ENST00000698431.1:c.1125A>G ENSP00000513717.1:n.1125A>G
ENST00000698432.1:c.1197A>G
ENST00000698433.1:n.850A>G
ENST00000244137.12:c.1388A>G MANE Select ENSP00000244137.5:p.Glu463Gly
ENST00000588328.6:c.1443A>G
ENST00000651901.1:c.1474A>G
ENST00000244137.11:c.1388A>G ENSP00000244137.5:p.Glu463Gly
ENST00000397032.8:c.1265A>G ENSP00000380226.3:p.Glu422Gly
ENST00000436370.7:c.1196A>G ENSP00000391890.2:p.Glu399Gly
ENST00000589598.5:n.113A>G
ENST00000591968.1:n.460A>G
ENST00000593085.1:n.1275A>G
NM_000285.3:c.1388A>G NP_000276.2:p.Glu463Gly
NM_001166056.1:c.1265A>G NP_001159528.1:p.Glu422Gly
NM_001166057.1:c.1196A>G NP_001159529.1:p.Glu399Gly
NM_000285.4:c.1388A>G MANE Select NP_000276.2:p.Glu463Gly
NM_001166056.2:c.1265A>G NP_001159528.1:p.Glu422Gly
NM_001166057.2:c.1196A>G NP_001159529.1:p.Glu399Gly