Canonical Allele Identifier: CA405219628
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387414G>C , CM000681.2:g.33387414G>C GRCh38
NC_000019.9:g.33878320G>C , CM000681.1:g.33878320G>C GRCh37
NC_000019.8:g.38570160G>C NCBI36
NG_013358.1:g.139480C>G
NG_013358.2:g.139480C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1478C>G ENSP00000468516.4:p.Thr493Ser
ENST00000651901.2:c.1502C>G ENSP00000498922.2:p.Thr501Ser
ENST00000698359.1:c.1367C>G ENSP00000513682.1:p.Thr456Ser
ENST00000698360.1:c.1463C>G ENSP00000513683.1:p.Thr488Ser
ENST00000698361.1:c.*40C>G ENSP00000513684.1:n.*40C>G
ENST00000698362.1:c.*549C>G ENSP00000513685.1:n.*549C>G
ENST00000698426.1:c.1091C>G ENSP00000513713.1:p.Thr364Ser
ENST00000698427.1:c.1454C>G ENSP00000513714.1:p.Thr485Ser
ENST00000698428.1:c.1091C>G ENSP00000513715.1:p.Thr364Ser
ENST00000698429.1:n.1295C>G
ENST00000698430.1:c.1662C>G
ENST00000698431.1:c.1149C>G ENSP00000513717.1:n.1149C>G
ENST00000698432.1:c.1221C>G
ENST00000698433.1:n.874C>G
ENST00000244137.12:c.1412C>G MANE Select ENSP00000244137.5:p.Thr471Ser
ENST00000588328.6:c.1467C>G
ENST00000651901.1:c.1498C>G
ENST00000244137.11:c.1412C>G ENSP00000244137.5:p.Thr471Ser
ENST00000397032.8:c.1289C>G ENSP00000380226.3:p.Thr430Ser
ENST00000436370.7:c.1220C>G ENSP00000391890.2:p.Thr407Ser
ENST00000589598.5:n.137C>G
ENST00000591968.1:n.484C>G
ENST00000593085.1:n.1299C>G
NM_000285.3:c.1412C>G NP_000276.2:p.Thr471Ser
NM_001166056.1:c.1289C>G NP_001159528.1:p.Thr430Ser
NM_001166057.1:c.1220C>G NP_001159529.1:p.Thr407Ser
NM_000285.4:c.1412C>G MANE Select NP_000276.2:p.Thr471Ser
NM_001166056.2:c.1289C>G NP_001159528.1:p.Thr430Ser
NM_001166057.2:c.1220C>G NP_001159529.1:p.Thr407Ser