Canonical Allele Identifier: CA405219633
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387415T>A , CM000681.2:g.33387415T>A GRCh38
NC_000019.9:g.33878321T>A , CM000681.1:g.33878321T>A GRCh37
NC_000019.8:g.38570161T>A NCBI36
NG_013358.1:g.139479A>T
NG_013358.2:g.139479A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1477A>T ENSP00000468516.4:p.Thr493Ser
ENST00000651901.2:c.1501A>T ENSP00000498922.2:p.Thr501Ser
ENST00000698359.1:c.1366A>T ENSP00000513682.1:p.Thr456Ser
ENST00000698360.1:c.1462A>T ENSP00000513683.1:p.Thr488Ser
ENST00000698361.1:c.*39A>T ENSP00000513684.1:n.*39A>T
ENST00000698362.1:c.*548A>T ENSP00000513685.1:n.*548A>T
ENST00000698426.1:c.1090A>T ENSP00000513713.1:p.Thr364Ser
ENST00000698427.1:c.1453A>T ENSP00000513714.1:p.Thr485Ser
ENST00000698428.1:c.1090A>T ENSP00000513715.1:p.Thr364Ser
ENST00000698429.1:n.1294A>T
ENST00000698430.1:c.1661A>T
ENST00000698431.1:c.1148A>T ENSP00000513717.1:n.1148A>T
ENST00000698432.1:c.1220A>T
ENST00000698433.1:n.873A>T
ENST00000244137.12:c.1411A>T MANE Select ENSP00000244137.5:p.Thr471Ser
ENST00000588328.6:c.1466A>T
ENST00000651901.1:c.1497A>T
ENST00000244137.11:c.1411A>T ENSP00000244137.5:p.Thr471Ser
ENST00000397032.8:c.1288A>T ENSP00000380226.3:p.Thr430Ser
ENST00000436370.7:c.1219A>T ENSP00000391890.2:p.Thr407Ser
ENST00000589598.5:n.136A>T
ENST00000591968.1:n.483A>T
ENST00000593085.1:n.1298A>T
NM_000285.3:c.1411A>T NP_000276.2:p.Thr471Ser
NM_001166056.1:c.1288A>T NP_001159528.1:p.Thr430Ser
NM_001166057.1:c.1219A>T NP_001159529.1:p.Thr407Ser
NM_000285.4:c.1411A>T MANE Select NP_000276.2:p.Thr471Ser
NM_001166056.2:c.1288A>T NP_001159528.1:p.Thr430Ser
NM_001166057.2:c.1219A>T NP_001159529.1:p.Thr407Ser