Canonical Allele Identifier: CA405219350
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387366G>C , CM000681.2:g.33387366G>C GRCh38
NC_000019.9:g.33878272G>C , CM000681.1:g.33878272G>C GRCh37
NC_000019.8:g.38570112G>C NCBI36
NG_013358.1:g.139528C>G
NG_013358.2:g.139528C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1526C>G ENSP00000468516.4:p.Thr509Ser
ENST00000651901.2:c.1550C>G ENSP00000498922.2:p.Thr517Ser
ENST00000698359.1:c.1415C>G ENSP00000513682.1:p.Thr472Ser
ENST00000698360.1:c.1511C>G ENSP00000513683.1:p.Thr504Ser
ENST00000698361.1:c.*88C>G ENSP00000513684.1:n.*88C>G
ENST00000698362.1:c.*597C>G ENSP00000513685.1:n.*597C>G
ENST00000698426.1:c.1139C>G ENSP00000513713.1:p.Thr380Ser
ENST00000698427.1:c.1502C>G ENSP00000513714.1:p.Thr501Ser
ENST00000698428.1:c.1139C>G ENSP00000513715.1:p.Thr380Ser
ENST00000698429.1:n.1343C>G
ENST00000698430.1:c.1710C>G
ENST00000698431.1:c.1197C>G ENSP00000513717.1:n.1197C>G
ENST00000698432.1:c.1269C>G
ENST00000698433.1:n.922C>G
ENST00000244137.12:c.1460C>G MANE Select ENSP00000244137.5:p.Thr487Ser
ENST00000588328.6:c.1515C>G
ENST00000651901.1:c.1546C>G
ENST00000244137.11:c.1460C>G ENSP00000244137.5:p.Thr487Ser
ENST00000397032.8:c.1337C>G ENSP00000380226.3:p.Thr446Ser
ENST00000436370.7:c.1268C>G ENSP00000391890.2:p.Thr423Ser
ENST00000589598.5:n.185C>G
ENST00000591968.1:n.532C>G
ENST00000593085.1:n.1347C>G
NM_000285.3:c.1460C>G NP_000276.2:p.Thr487Ser
NM_001166056.1:c.1337C>G NP_001159528.1:p.Thr446Ser
NM_001166057.1:c.1268C>G NP_001159529.1:p.Thr423Ser
NM_000285.4:c.1460C>G MANE Select NP_000276.2:p.Thr487Ser
NM_001166056.2:c.1337C>G NP_001159528.1:p.Thr446Ser
NM_001166057.2:c.1268C>G NP_001159529.1:p.Thr423Ser