Canonical Allele Identifier: CA405219540
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387398T>G , CM000681.2:g.33387398T>G GRCh38
NC_000019.9:g.33878304T>G , CM000681.1:g.33878304T>G GRCh37
NC_000019.8:g.38570144T>G NCBI36
NG_013358.1:g.139496A>C
NG_013358.2:g.139496A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1494A>C ENSP00000468516.4:p.Glu498Asp
ENST00000651901.2:c.1518A>C ENSP00000498922.2:p.Glu506Asp
ENST00000698359.1:c.1383A>C ENSP00000513682.1:p.Glu461Asp
ENST00000698360.1:c.1479A>C ENSP00000513683.1:p.Glu493Asp
ENST00000698361.1:c.*56A>C ENSP00000513684.1:n.*56A>C
ENST00000698362.1:c.*565A>C ENSP00000513685.1:n.*565A>C
ENST00000698426.1:c.1107A>C ENSP00000513713.1:p.Glu369Asp
ENST00000698427.1:c.1470A>C ENSP00000513714.1:p.Glu490Asp
ENST00000698428.1:c.1107A>C ENSP00000513715.1:p.Glu369Asp
ENST00000698429.1:n.1311A>C
ENST00000698430.1:c.1678A>C
ENST00000698431.1:c.1165A>C ENSP00000513717.1:n.1165A>C
ENST00000698432.1:c.1237A>C
ENST00000698433.1:n.890A>C
ENST00000244137.12:c.1428A>C MANE Select ENSP00000244137.5:p.Glu476Asp
ENST00000588328.6:c.1483A>C
ENST00000651901.1:c.1514A>C
ENST00000244137.11:c.1428A>C ENSP00000244137.5:p.Glu476Asp
ENST00000397032.8:c.1305A>C ENSP00000380226.3:p.Glu435Asp
ENST00000436370.7:c.1236A>C ENSP00000391890.2:p.Glu412Asp
ENST00000589598.5:n.153A>C
ENST00000591968.1:n.500A>C
ENST00000593085.1:n.1315A>C
NM_000285.3:c.1428A>C NP_000276.2:p.Glu476Asp
NM_001166056.1:c.1305A>C NP_001159528.1:p.Glu435Asp
NM_001166057.1:c.1236A>C NP_001159529.1:p.Glu412Asp
NM_000285.4:c.1428A>C MANE Select NP_000276.2:p.Glu476Asp
NM_001166056.2:c.1305A>C NP_001159528.1:p.Glu435Asp
NM_001166057.2:c.1236A>C NP_001159529.1:p.Glu412Asp