Canonical Allele Identifier: CA405219546
Gene: PEPD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33387399T>C , CM000681.2:g.33387399T>C GRCh38
NC_000019.9:g.33878305T>C , CM000681.1:g.33878305T>C GRCh37
NC_000019.8:g.38570145T>C NCBI36
NG_013358.1:g.139495A>G
NG_013358.2:g.139495A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000588328.7:c.1493A>G ENSP00000468516.4:p.Glu498Gly
ENST00000651901.2:c.1517A>G ENSP00000498922.2:p.Glu506Gly
ENST00000698359.1:c.1382A>G ENSP00000513682.1:p.Glu461Gly
ENST00000698360.1:c.1478A>G ENSP00000513683.1:p.Glu493Gly
ENST00000698361.1:c.*55A>G ENSP00000513684.1:n.*55A>G
ENST00000698362.1:c.*564A>G ENSP00000513685.1:n.*564A>G
ENST00000698426.1:c.1106A>G ENSP00000513713.1:p.Glu369Gly
ENST00000698427.1:c.1469A>G ENSP00000513714.1:p.Glu490Gly
ENST00000698428.1:c.1106A>G ENSP00000513715.1:p.Glu369Gly
ENST00000698429.1:n.1310A>G
ENST00000698430.1:c.1677A>G
ENST00000698431.1:c.1164A>G ENSP00000513717.1:n.1164A>G
ENST00000698432.1:c.1236A>G
ENST00000698433.1:n.889A>G
ENST00000244137.12:c.1427A>G MANE Select ENSP00000244137.5:p.Glu476Gly
ENST00000588328.6:c.1482A>G
ENST00000651901.1:c.1513A>G
ENST00000244137.11:c.1427A>G ENSP00000244137.5:p.Glu476Gly
ENST00000397032.8:c.1304A>G ENSP00000380226.3:p.Glu435Gly
ENST00000436370.7:c.1235A>G ENSP00000391890.2:p.Glu412Gly
ENST00000589598.5:n.152A>G
ENST00000591968.1:n.499A>G
ENST00000593085.1:n.1314A>G
NM_000285.3:c.1427A>G NP_000276.2:p.Glu476Gly
NM_001166056.1:c.1304A>G NP_001159528.1:p.Glu435Gly
NM_001166057.1:c.1235A>G NP_001159529.1:p.Glu412Gly
NM_000285.4:c.1427A>G MANE Select NP_000276.2:p.Glu476Gly
NM_001166056.2:c.1304A>G NP_001159528.1:p.Glu435Gly
NM_001166057.2:c.1235A>G NP_001159529.1:p.Glu412Gly