Canonical Allele Identifier: CA405219794

Gene: PEPD

Linked Data

• dbSNP Id: rs1390186557
• gnomAD v2: 19-33878387-C-T
• gnomAD v4: 19-33387481-C-T
• MyVariant Identifiers: chr19:g.33878387C>T (hg19) ; chr19:g.33387481C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387481C>T , CM000681.2:g.33387481C>T	GRCh38
NC_000019.9:g.33878387C>T , CM000681.1:g.33878387C>T	GRCh37
NC_000019.8:g.38570227C>T	NCBI36
NG_013358.1:g.139413G>A
NG_013358.2:g.139413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1411G>A	ENSP00000468516.4:p.Val471Ile
ENST00000651901.2:c.1435G>A	ENSP00000498922.2:p.Val479Ile
ENST00000698359.1:c.1300G>A	ENSP00000513682.1:p.Val434Ile
ENST00000698360.1:c.1396G>A	ENSP00000513683.1:p.Val466Ile
ENST00000698361.1:c.1461G>A	ENSP00000513684.1:p.Gly487=
ENST00000698362.1:c.*482G>A	ENSP00000513685.1:n.*482G>A
ENST00000698426.1:c.1024G>A	ENSP00000513713.1:p.Val342Ile
ENST00000698427.1:c.1387G>A	ENSP00000513714.1:p.Val463Ile
ENST00000698428.1:c.1024G>A	ENSP00000513715.1:p.Val342Ile
ENST00000698429.1:n.1228G>A
ENST00000698430.1:c.1595G>A
ENST00000698431.1:c.1082G>A	ENSP00000513717.1:n.1082G>A
ENST00000698432.1:c.1154G>A
ENST00000698433.1:n.807G>A
ENST00000244137.12:c.1345G>A MANE Select	ENSP00000244137.5:p.Val449Ile
ENST00000588328.6:c.1400G>A
ENST00000651901.1:c.1431G>A
ENST00000244137.11:c.1345G>A	ENSP00000244137.5:p.Val449Ile
ENST00000397032.8:c.1222G>A	ENSP00000380226.3:p.Val408Ile
ENST00000436370.7:c.1153G>A	ENSP00000391890.2:p.Val385Ile
ENST00000589598.5:n.70G>A
ENST00000591968.1:n.417G>A
ENST00000593085.1:n.1232G>A
NM_000285.3:c.1345G>A	NP_000276.2:p.Val449Ile
NM_001166056.1:c.1222G>A	NP_001159528.1:p.Val408Ile
NM_001166057.1:c.1153G>A	NP_001159529.1:p.Val385Ile
NM_000285.4:c.1345G>A MANE Select	NP_000276.2:p.Val449Ile
NM_001166056.2:c.1222G>A	NP_001159528.1:p.Val408Ile
NM_001166057.2:c.1153G>A	NP_001159529.1:p.Val385Ile