Canonical Allele Identifier: CA405219474
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387387G>C , CM000681.2:g.33387387G>C GRCh38
NC_000019.9:g.33878293G>C , CM000681.1:g.33878293G>C GRCh37
NC_000019.8:g.38570133G>C NCBI36
NG_013358.1:g.139507C>G
NG_013358.2:g.139507C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1505C>G ENSP00000468516.4:p.Ala502Gly
ENST00000651901.2:c.1529C>G ENSP00000498922.2:p.Ala510Gly
ENST00000698359.1:c.1394C>G ENSP00000513682.1:p.Ala465Gly
ENST00000698360.1:c.1490C>G ENSP00000513683.1:p.Ala497Gly
ENST00000698361.1:c.*67C>G ENSP00000513684.1:n.*67C>G
ENST00000698362.1:c.*576C>G ENSP00000513685.1:n.*576C>G
ENST00000698426.1:c.1118C>G ENSP00000513713.1:p.Ala373Gly
ENST00000698427.1:c.1481C>G ENSP00000513714.1:p.Ala494Gly
ENST00000698428.1:c.1118C>G ENSP00000513715.1:p.Ala373Gly
ENST00000698429.1:n.1322C>G
ENST00000698430.1:c.1689C>G
ENST00000698431.1:c.1176C>G ENSP00000513717.1:n.1176C>G
ENST00000698432.1:c.1248C>G
ENST00000698433.1:n.901C>G
ENST00000244137.12:c.1439C>G MANE Select ENSP00000244137.5:p.Ala480Gly
ENST00000588328.6:c.1494C>G
ENST00000651901.1:c.1525C>G
ENST00000244137.11:c.1439C>G ENSP00000244137.5:p.Ala480Gly
ENST00000397032.8:c.1316C>G ENSP00000380226.3:p.Ala439Gly
ENST00000436370.7:c.1247C>G ENSP00000391890.2:p.Ala416Gly
ENST00000589598.5:n.164C>G
ENST00000591968.1:n.511C>G
ENST00000593085.1:n.1326C>G
NM_000285.3:c.1439C>G NP_000276.2:p.Ala480Gly
NM_001166056.1:c.1316C>G NP_001159528.1:p.Ala439Gly
NM_001166057.1:c.1247C>G NP_001159529.1:p.Ala416Gly
NM_000285.4:c.1439C>G MANE Select NP_000276.2:p.Ala480Gly
NM_001166056.2:c.1316C>G NP_001159528.1:p.Ala439Gly
NM_001166057.2:c.1247C>G NP_001159529.1:p.Ala416Gly