Canonical Allele Identifier: CA405219742
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387468T>A , CM000681.2:g.33387468T>A GRCh38
NC_000019.9:g.33878374T>A , CM000681.1:g.33878374T>A GRCh37
NC_000019.8:g.38570214T>A NCBI36
NG_013358.1:g.139426A>T
NG_013358.2:g.139426A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1424A>T ENSP00000468516.4:p.Glu475Val
ENST00000651901.2:c.1448A>T ENSP00000498922.2:p.Glu483Val
ENST00000698359.1:c.1313A>T ENSP00000513682.1:p.Glu438Val
ENST00000698360.1:c.1409A>T ENSP00000513683.1:p.Glu470Val
ENST00000698361.1:c.1474A>T ENSP00000513684.1:p.Arg492Trp
ENST00000698362.1:c.*495A>T ENSP00000513685.1:n.*495A>T
ENST00000698426.1:c.1037A>T ENSP00000513713.1:p.Glu346Val
ENST00000698427.1:c.1400A>T ENSP00000513714.1:p.Glu467Val
ENST00000698428.1:c.1037A>T ENSP00000513715.1:p.Glu346Val
ENST00000698429.1:n.1241A>T
ENST00000698430.1:c.1608A>T
ENST00000698431.1:c.1095A>T ENSP00000513717.1:n.1095A>T
ENST00000698432.1:c.1167A>T
ENST00000698433.1:n.820A>T
ENST00000244137.12:c.1358A>T MANE Select ENSP00000244137.5:p.Glu453Val
ENST00000588328.6:c.1413A>T
ENST00000651901.1:c.1444A>T
ENST00000244137.11:c.1358A>T ENSP00000244137.5:p.Glu453Val
ENST00000397032.8:c.1235A>T ENSP00000380226.3:p.Glu412Val
ENST00000436370.7:c.1166A>T ENSP00000391890.2:p.Glu389Val
ENST00000589598.5:n.83A>T
ENST00000591968.1:n.430A>T
ENST00000593085.1:n.1245A>T
NM_000285.3:c.1358A>T NP_000276.2:p.Glu453Val
NM_001166056.1:c.1235A>T NP_001159528.1:p.Glu412Val
NM_001166057.1:c.1166A>T NP_001159529.1:p.Glu389Val
NM_000285.4:c.1358A>T MANE Select NP_000276.2:p.Glu453Val
NM_001166056.2:c.1235A>T NP_001159528.1:p.Glu412Val
NM_001166057.2:c.1166A>T NP_001159529.1:p.Glu389Val