Canonical Allele Identifier: CA405219598
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387408T>C , CM000681.2:g.33387408T>C GRCh38
NC_000019.9:g.33878314T>C , CM000681.1:g.33878314T>C GRCh37
NC_000019.8:g.38570154T>C NCBI36
NG_013358.1:g.139486A>G
NG_013358.2:g.139486A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1484A>G ENSP00000468516.4:p.Glu495Gly
ENST00000651901.2:c.1508A>G ENSP00000498922.2:p.Glu503Gly
ENST00000698359.1:c.1373A>G ENSP00000513682.1:p.Glu458Gly
ENST00000698360.1:c.1469A>G ENSP00000513683.1:p.Glu490Gly
ENST00000698361.1:c.*46A>G ENSP00000513684.1:n.*46A>G
ENST00000698362.1:c.*555A>G ENSP00000513685.1:n.*555A>G
ENST00000698426.1:c.1097A>G ENSP00000513713.1:p.Glu366Gly
ENST00000698427.1:c.1460A>G ENSP00000513714.1:p.Glu487Gly
ENST00000698428.1:c.1097A>G ENSP00000513715.1:p.Glu366Gly
ENST00000698429.1:n.1301A>G
ENST00000698430.1:c.1668A>G
ENST00000698431.1:c.1155A>G ENSP00000513717.1:n.1155A>G
ENST00000698432.1:c.1227A>G
ENST00000698433.1:n.880A>G
ENST00000244137.12:c.1418A>G MANE Select ENSP00000244137.5:p.Glu473Gly
ENST00000588328.6:c.1473A>G
ENST00000651901.1:c.1504A>G
ENST00000244137.11:c.1418A>G ENSP00000244137.5:p.Glu473Gly
ENST00000397032.8:c.1295A>G ENSP00000380226.3:p.Glu432Gly
ENST00000436370.7:c.1226A>G ENSP00000391890.2:p.Glu409Gly
ENST00000589598.5:n.143A>G
ENST00000591968.1:n.490A>G
ENST00000593085.1:n.1305A>G
NM_000285.3:c.1418A>G NP_000276.2:p.Glu473Gly
NM_001166056.1:c.1295A>G NP_001159528.1:p.Glu432Gly
NM_001166057.1:c.1226A>G NP_001159529.1:p.Glu409Gly
NM_000285.4:c.1418A>G MANE Select NP_000276.2:p.Glu473Gly
NM_001166056.2:c.1295A>G NP_001159528.1:p.Glu432Gly
NM_001166057.2:c.1226A>G NP_001159529.1:p.Glu409Gly