Canonical Allele Identifier: CA9363878

Gene: PEPD

Linked Data

• ClinVar Variation Id: 1391035
• ClinVar RCV Id: RCV001891290 ; RCV002553596
• dbSNP Id: rs747974977
• ExAC: 19:33878369 C / T
• gnomAD v2: 19-33878369-C-T
• gnomAD v3: 19-33387463-C-T
• gnomAD v4: 19-33387463-C-T
• MyVariant Identifiers: chr19:g.33878369C>T (hg19) ; chr19:g.33387463C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1429G>A	ENSP00000468516.4:p.Val477Ile
ENST00000651901.2:c.1453G>A	ENSP00000498922.2:p.Val485Ile
ENST00000698359.1:c.1318G>A	ENSP00000513682.1:p.Val440Ile
ENST00000698360.1:c.1414G>A	ENSP00000513683.1:p.Val472Ile
ENST00000698361.1:c.1479G>A	ENSP00000513684.1:p.Thr493=
ENST00000698362.1:c.*500G>A	ENSP00000513685.1:n.*500G>A
ENST00000698426.1:c.1042G>A	ENSP00000513713.1:p.Val348Ile
ENST00000698427.1:c.1405G>A	ENSP00000513714.1:p.Val469Ile
ENST00000698428.1:c.1042G>A	ENSP00000513715.1:p.Val348Ile
ENST00000698429.1:n.1246G>A
ENST00000698430.1:c.1613G>A
ENST00000698431.1:c.1100G>A	ENSP00000513717.1:n.1100G>A
ENST00000698432.1:c.1172G>A
ENST00000698433.1:n.825G>A
ENST00000244137.12:c.1363G>A MANE Select	ENSP00000244137.5:p.Val455Ile
ENST00000588328.6:c.1418G>A
ENST00000651901.1:c.1449G>A
ENST00000244137.11:c.1363G>A	ENSP00000244137.5:p.Val455Ile
ENST00000397032.8:c.1240G>A	ENSP00000380226.3:p.Val414Ile
ENST00000436370.7:c.1171G>A	ENSP00000391890.2:p.Val391Ile
ENST00000589598.5:n.88G>A
ENST00000591968.1:n.435G>A
ENST00000593085.1:n.1250G>A
NM_000285.3:c.1363G>A	NP_000276.2:p.Val455Ile
NM_001166056.1:c.1240G>A	NP_001159528.1:p.Val414Ile
NM_001166057.1:c.1171G>A	NP_001159529.1:p.Val391Ile
NM_000285.4:c.1363G>A MANE Select	NP_000276.2:p.Val455Ile
NM_001166056.2:c.1240G>A	NP_001159528.1:p.Val414Ile
NM_001166057.2:c.1171G>A	NP_001159529.1:p.Val391Ile