Canonical Allele Identifier: CA405219303
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387357G>T , CM000681.2:g.33387357G>T GRCh38
NC_000019.9:g.33878263G>T , CM000681.1:g.33878263G>T GRCh37
NC_000019.8:g.38570103G>T NCBI36
NG_013358.1:g.139537C>A
NG_013358.2:g.139537C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1535C>A ENSP00000468516.4:p.Ser512Tyr
ENST00000651901.2:c.1559C>A ENSP00000498922.2:p.Ser520Tyr
ENST00000698359.1:c.1424C>A ENSP00000513682.1:p.Ser475Tyr
ENST00000698360.1:c.1520C>A ENSP00000513683.1:p.Ser507Tyr
ENST00000698361.1:c.*97C>A ENSP00000513684.1:n.*97C>A
ENST00000698362.1:c.*606C>A ENSP00000513685.1:n.*606C>A
ENST00000698426.1:c.1148C>A ENSP00000513713.1:p.Ser383Tyr
ENST00000698427.1:c.1511C>A ENSP00000513714.1:p.Ser504Tyr
ENST00000698428.1:c.1148C>A ENSP00000513715.1:p.Ser383Tyr
ENST00000698429.1:n.1352C>A
ENST00000698430.1:c.1719C>A
ENST00000698431.1:c.1206C>A ENSP00000513717.1:n.1206C>A
ENST00000698432.1:c.1278C>A
ENST00000698433.1:n.931C>A
ENST00000244137.12:c.1469C>A MANE Select ENSP00000244137.5:p.Ser490Tyr
ENST00000588328.6:c.1524C>A
ENST00000651901.1:c.1555C>A
ENST00000244137.11:c.1469C>A ENSP00000244137.5:p.Ser490Tyr
ENST00000397032.8:c.1346C>A ENSP00000380226.3:p.Ser449Tyr
ENST00000436370.7:c.1277C>A ENSP00000391890.2:p.Ser426Tyr
ENST00000589598.5:n.194C>A
ENST00000591968.1:n.541C>A
ENST00000593085.1:n.1356C>A
NM_000285.3:c.1469C>A NP_000276.2:p.Ser490Tyr
NM_001166056.1:c.1346C>A NP_001159528.1:p.Ser449Tyr
NM_001166057.1:c.1277C>A NP_001159529.1:p.Ser426Tyr
NM_000285.4:c.1469C>A MANE Select NP_000276.2:p.Ser490Tyr
NM_001166056.2:c.1346C>A NP_001159528.1:p.Ser449Tyr
NM_001166057.2:c.1277C>A NP_001159529.1:p.Ser426Tyr