Canonical Allele Identifier: CA405219732

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878369C>A (hg19) ; chr19:g.33387463C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387463C>A , CM000681.2:g.33387463C>A	GRCh38
NC_000019.9:g.33878369C>A , CM000681.1:g.33878369C>A	GRCh37
NC_000019.8:g.38570209C>A	NCBI36
NG_013358.1:g.139431G>T
NG_013358.2:g.139431G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1429G>T	ENSP00000468516.4:p.Val477Phe
ENST00000651901.2:c.1453G>T	ENSP00000498922.2:p.Val485Phe
ENST00000698359.1:c.1318G>T	ENSP00000513682.1:p.Val440Phe
ENST00000698360.1:c.1414G>T	ENSP00000513683.1:p.Val472Phe
ENST00000698361.1:c.1479G>T	ENSP00000513684.1:p.Thr493=
ENST00000698362.1:c.*500G>T	ENSP00000513685.1:n.*500G>T
ENST00000698426.1:c.1042G>T	ENSP00000513713.1:p.Val348Phe
ENST00000698427.1:c.1405G>T	ENSP00000513714.1:p.Val469Phe
ENST00000698428.1:c.1042G>T	ENSP00000513715.1:p.Val348Phe
ENST00000698429.1:n.1246G>T
ENST00000698430.1:c.1613G>T
ENST00000698431.1:c.1100G>T	ENSP00000513717.1:n.1100G>T
ENST00000698432.1:c.1172G>T
ENST00000698433.1:n.825G>T
ENST00000244137.12:c.1363G>T MANE Select	ENSP00000244137.5:p.Val455Phe
ENST00000588328.6:c.1418G>T
ENST00000651901.1:c.1449G>T
ENST00000244137.11:c.1363G>T	ENSP00000244137.5:p.Val455Phe
ENST00000397032.8:c.1240G>T	ENSP00000380226.3:p.Val414Phe
ENST00000436370.7:c.1171G>T	ENSP00000391890.2:p.Val391Phe
ENST00000589598.5:n.88G>T
ENST00000591968.1:n.435G>T
ENST00000593085.1:n.1250G>T
NM_000285.3:c.1363G>T	NP_000276.2:p.Val455Phe
NM_001166056.1:c.1240G>T	NP_001159528.1:p.Val414Phe
NM_001166057.1:c.1171G>T	NP_001159529.1:p.Val391Phe
NM_000285.4:c.1363G>T MANE Select	NP_000276.2:p.Val455Phe
NM_001166056.2:c.1240G>T	NP_001159528.1:p.Val414Phe
NM_001166057.2:c.1171G>T	NP_001159529.1:p.Val391Phe