Canonical Allele Identifier: CA405219481

Gene: PEPD

Linked Data

• dbSNP Id: rs1568442025
• MyVariant Identifiers: chr19:g.33878294C>T (hg19) ; chr19:g.33387388C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387388C>T , CM000681.2:g.33387388C>T	GRCh38
NC_000019.9:g.33878294C>T , CM000681.1:g.33878294C>T	GRCh37
NC_000019.8:g.38570134C>T	NCBI36
NG_013358.1:g.139506G>A
NG_013358.2:g.139506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1504G>A	ENSP00000468516.4:p.Ala502Thr
ENST00000651901.2:c.1528G>A	ENSP00000498922.2:p.Ala510Thr
ENST00000698359.1:c.1393G>A	ENSP00000513682.1:p.Ala465Thr
ENST00000698360.1:c.1489G>A	ENSP00000513683.1:p.Ala497Thr
ENST00000698361.1:c.*66G>A	ENSP00000513684.1:n.*66G>A
ENST00000698362.1:c.*575G>A	ENSP00000513685.1:n.*575G>A
ENST00000698426.1:c.1117G>A	ENSP00000513713.1:p.Ala373Thr
ENST00000698427.1:c.1480G>A	ENSP00000513714.1:p.Ala494Thr
ENST00000698428.1:c.1117G>A	ENSP00000513715.1:p.Ala373Thr
ENST00000698429.1:n.1321G>A
ENST00000698430.1:c.1688G>A
ENST00000698431.1:c.1175G>A	ENSP00000513717.1:n.1175G>A
ENST00000698432.1:c.1247G>A
ENST00000698433.1:n.900G>A
ENST00000244137.12:c.1438G>A MANE Select	ENSP00000244137.5:p.Ala480Thr
ENST00000588328.6:c.1493G>A
ENST00000651901.1:c.1524G>A
ENST00000244137.11:c.1438G>A	ENSP00000244137.5:p.Ala480Thr
ENST00000397032.8:c.1315G>A	ENSP00000380226.3:p.Ala439Thr
ENST00000436370.7:c.1246G>A	ENSP00000391890.2:p.Ala416Thr
ENST00000589598.5:n.163G>A
ENST00000591968.1:n.510G>A
ENST00000593085.1:n.1325G>A
NM_000285.3:c.1438G>A	NP_000276.2:p.Ala480Thr
NM_001166056.1:c.1315G>A	NP_001159528.1:p.Ala439Thr
NM_001166057.1:c.1246G>A	NP_001159529.1:p.Ala416Thr
NM_000285.4:c.1438G>A MANE Select	NP_000276.2:p.Ala480Thr
NM_001166056.2:c.1315G>A	NP_001159528.1:p.Ala439Thr
NM_001166057.2:c.1246G>A	NP_001159529.1:p.Ala416Thr