Canonical Allele Identifier: CA405219751
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387471T>C , CM000681.2:g.33387471T>C GRCh38
NC_000019.9:g.33878377T>C , CM000681.1:g.33878377T>C GRCh37
NC_000019.8:g.38570217T>C NCBI36
NG_013358.1:g.139423A>G
NG_013358.2:g.139423A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1421A>G ENSP00000468516.4:p.Glu474Gly
ENST00000651901.2:c.1445A>G ENSP00000498922.2:p.Glu482Gly
ENST00000698359.1:c.1310A>G ENSP00000513682.1:p.Glu437Gly
ENST00000698360.1:c.1406A>G ENSP00000513683.1:p.Glu469Gly
ENST00000698361.1:c.1471A>G ENSP00000513684.1:p.Arg491Gly
ENST00000698362.1:c.*492A>G ENSP00000513685.1:n.*492A>G
ENST00000698426.1:c.1034A>G ENSP00000513713.1:p.Glu345Gly
ENST00000698427.1:c.1397A>G ENSP00000513714.1:p.Glu466Gly
ENST00000698428.1:c.1034A>G ENSP00000513715.1:p.Glu345Gly
ENST00000698429.1:n.1238A>G
ENST00000698430.1:c.1605A>G
ENST00000698431.1:c.1092A>G ENSP00000513717.1:n.1092A>G
ENST00000698432.1:c.1164A>G
ENST00000698433.1:n.817A>G
ENST00000244137.12:c.1355A>G MANE Select ENSP00000244137.5:p.Glu452Gly
ENST00000588328.6:c.1410A>G
ENST00000651901.1:c.1441A>G
ENST00000244137.11:c.1355A>G ENSP00000244137.5:p.Glu452Gly
ENST00000397032.8:c.1232A>G ENSP00000380226.3:p.Glu411Gly
ENST00000436370.7:c.1163A>G ENSP00000391890.2:p.Glu388Gly
ENST00000589598.5:n.80A>G
ENST00000591968.1:n.427A>G
ENST00000593085.1:n.1242A>G
NM_000285.3:c.1355A>G NP_000276.2:p.Glu452Gly
NM_001166056.1:c.1232A>G NP_001159528.1:p.Glu411Gly
NM_001166057.1:c.1163A>G NP_001159529.1:p.Glu388Gly
NM_000285.4:c.1355A>G MANE Select NP_000276.2:p.Glu452Gly
NM_001166056.2:c.1232A>G NP_001159528.1:p.Glu411Gly
NM_001166057.2:c.1163A>G NP_001159529.1:p.Glu388Gly