Canonical Allele Identifier: CA405219417
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387377G>C , CM000681.2:g.33387377G>C GRCh38
NC_000019.9:g.33878283G>C , CM000681.1:g.33878283G>C GRCh37
NC_000019.8:g.38570123G>C NCBI36
NG_013358.1:g.139517C>G
NG_013358.2:g.139517C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1515C>G ENSP00000468516.4:p.Asp505Glu
ENST00000651901.2:c.1539C>G ENSP00000498922.2:p.Asp513Glu
ENST00000698359.1:c.1404C>G ENSP00000513682.1:p.Asp468Glu
ENST00000698360.1:c.1500C>G ENSP00000513683.1:p.Asp500Glu
ENST00000698361.1:c.*77C>G ENSP00000513684.1:n.*77C>G
ENST00000698362.1:c.*586C>G ENSP00000513685.1:n.*586C>G
ENST00000698426.1:c.1128C>G ENSP00000513713.1:p.Asp376Glu
ENST00000698427.1:c.1491C>G ENSP00000513714.1:p.Asp497Glu
ENST00000698428.1:c.1128C>G ENSP00000513715.1:p.Asp376Glu
ENST00000698429.1:n.1332C>G
ENST00000698430.1:c.1699C>G
ENST00000698431.1:c.1186C>G ENSP00000513717.1:n.1186C>G
ENST00000698432.1:c.1258C>G
ENST00000698433.1:n.911C>G
ENST00000244137.12:c.1449C>G MANE Select ENSP00000244137.5:p.Asp483Glu
ENST00000588328.6:c.1504C>G
ENST00000651901.1:c.1535C>G
ENST00000244137.11:c.1449C>G ENSP00000244137.5:p.Asp483Glu
ENST00000397032.8:c.1326C>G ENSP00000380226.3:p.Asp442Glu
ENST00000436370.7:c.1257C>G ENSP00000391890.2:p.Asp419Glu
ENST00000589598.5:n.174C>G
ENST00000591968.1:n.521C>G
ENST00000593085.1:n.1336C>G
NM_000285.3:c.1449C>G NP_000276.2:p.Asp483Glu
NM_001166056.1:c.1326C>G NP_001159528.1:p.Asp442Glu
NM_001166057.1:c.1257C>G NP_001159529.1:p.Asp419Glu
NM_000285.4:c.1449C>G MANE Select NP_000276.2:p.Asp483Glu
NM_001166056.2:c.1326C>G NP_001159528.1:p.Asp442Glu
NM_001166057.2:c.1257C>G NP_001159529.1:p.Asp419Glu