Canonical Allele Identifier: CA405219749
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387470C>G , CM000681.2:g.33387470C>G GRCh38
NC_000019.9:g.33878376C>G , CM000681.1:g.33878376C>G GRCh37
NC_000019.8:g.38570216C>G NCBI36
NG_013358.1:g.139424G>C
NG_013358.2:g.139424G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1422G>C ENSP00000468516.4:p.Glu474Asp
ENST00000651901.2:c.1446G>C ENSP00000498922.2:p.Glu482Asp
ENST00000698359.1:c.1311G>C ENSP00000513682.1:p.Glu437Asp
ENST00000698360.1:c.1407G>C ENSP00000513683.1:p.Glu469Asp
ENST00000698361.1:c.1472G>C ENSP00000513684.1:p.Arg491Thr
ENST00000698362.1:c.*493G>C ENSP00000513685.1:n.*493G>C
ENST00000698426.1:c.1035G>C ENSP00000513713.1:p.Glu345Asp
ENST00000698427.1:c.1398G>C ENSP00000513714.1:p.Glu466Asp
ENST00000698428.1:c.1035G>C ENSP00000513715.1:p.Glu345Asp
ENST00000698429.1:n.1239G>C
ENST00000698430.1:c.1606G>C
ENST00000698431.1:c.1093G>C ENSP00000513717.1:n.1093G>C
ENST00000698432.1:c.1165G>C
ENST00000698433.1:n.818G>C
ENST00000244137.12:c.1356G>C MANE Select ENSP00000244137.5:p.Glu452Asp
ENST00000588328.6:c.1411G>C
ENST00000651901.1:c.1442G>C
ENST00000244137.11:c.1356G>C ENSP00000244137.5:p.Glu452Asp
ENST00000397032.8:c.1233G>C ENSP00000380226.3:p.Glu411Asp
ENST00000436370.7:c.1164G>C ENSP00000391890.2:p.Glu388Asp
ENST00000589598.5:n.81G>C
ENST00000591968.1:n.428G>C
ENST00000593085.1:n.1243G>C
NM_000285.3:c.1356G>C NP_000276.2:p.Glu452Asp
NM_001166056.1:c.1233G>C NP_001159528.1:p.Glu411Asp
NM_001166057.1:c.1164G>C NP_001159529.1:p.Glu388Asp
NM_000285.4:c.1356G>C MANE Select NP_000276.2:p.Glu452Asp
NM_001166056.2:c.1233G>C NP_001159528.1:p.Glu411Asp
NM_001166057.2:c.1164G>C NP_001159529.1:p.Glu388Asp