Canonical Allele Identifier: CA405219743
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387468T>C , CM000681.2:g.33387468T>C GRCh38
NC_000019.9:g.33878374T>C , CM000681.1:g.33878374T>C GRCh37
NC_000019.8:g.38570214T>C NCBI36
NG_013358.1:g.139426A>G
NG_013358.2:g.139426A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1424A>G ENSP00000468516.4:p.Glu475Gly
ENST00000651901.2:c.1448A>G ENSP00000498922.2:p.Glu483Gly
ENST00000698359.1:c.1313A>G ENSP00000513682.1:p.Glu438Gly
ENST00000698360.1:c.1409A>G ENSP00000513683.1:p.Glu470Gly
ENST00000698361.1:c.1474A>G ENSP00000513684.1:p.Arg492Gly
ENST00000698362.1:c.*495A>G ENSP00000513685.1:n.*495A>G
ENST00000698426.1:c.1037A>G ENSP00000513713.1:p.Glu346Gly
ENST00000698427.1:c.1400A>G ENSP00000513714.1:p.Glu467Gly
ENST00000698428.1:c.1037A>G ENSP00000513715.1:p.Glu346Gly
ENST00000698429.1:n.1241A>G
ENST00000698430.1:c.1608A>G
ENST00000698431.1:c.1095A>G ENSP00000513717.1:n.1095A>G
ENST00000698432.1:c.1167A>G
ENST00000698433.1:n.820A>G
ENST00000244137.12:c.1358A>G MANE Select ENSP00000244137.5:p.Glu453Gly
ENST00000588328.6:c.1413A>G
ENST00000651901.1:c.1444A>G
ENST00000244137.11:c.1358A>G ENSP00000244137.5:p.Glu453Gly
ENST00000397032.8:c.1235A>G ENSP00000380226.3:p.Glu412Gly
ENST00000436370.7:c.1166A>G ENSP00000391890.2:p.Glu389Gly
ENST00000589598.5:n.83A>G
ENST00000591968.1:n.430A>G
ENST00000593085.1:n.1245A>G
NM_000285.3:c.1358A>G NP_000276.2:p.Glu453Gly
NM_001166056.1:c.1235A>G NP_001159528.1:p.Glu412Gly
NM_001166057.1:c.1166A>G NP_001159529.1:p.Glu389Gly
NM_000285.4:c.1358A>G MANE Select NP_000276.2:p.Glu453Gly
NM_001166056.2:c.1235A>G NP_001159528.1:p.Glu412Gly
NM_001166057.2:c.1166A>G NP_001159529.1:p.Glu389Gly