Canonical Allele Identifier: CA405219790

Gene: PEPD

Linked Data

• gnomAD v4: 19-33387481-C-A
• MyVariant Identifiers: chr19:g.33878387C>A (hg19) ; chr19:g.33387481C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.1411G>T	ENSP00000468516.4:p.Val471Phe
ENST00000651901.2:c.1435G>T	ENSP00000498922.2:p.Val479Phe
ENST00000698359.1:c.1300G>T	ENSP00000513682.1:p.Val434Phe
ENST00000698360.1:c.1396G>T	ENSP00000513683.1:p.Val466Phe
ENST00000698361.1:c.1461G>T	ENSP00000513684.1:p.Gly487=
ENST00000698362.1:c.*482G>T	ENSP00000513685.1:n.*482G>T
ENST00000698426.1:c.1024G>T	ENSP00000513713.1:p.Val342Phe
ENST00000698427.1:c.1387G>T	ENSP00000513714.1:p.Val463Phe
ENST00000698428.1:c.1024G>T	ENSP00000513715.1:p.Val342Phe
ENST00000698429.1:n.1228G>T
ENST00000698430.1:c.1595G>T
ENST00000698431.1:c.1082G>T	ENSP00000513717.1:n.1082G>T
ENST00000698432.1:c.1154G>T
ENST00000698433.1:n.807G>T
ENST00000244137.12:c.1345G>T MANE Select	ENSP00000244137.5:p.Val449Phe
ENST00000588328.6:c.1400G>T
ENST00000651901.1:c.1431G>T
ENST00000244137.11:c.1345G>T	ENSP00000244137.5:p.Val449Phe
ENST00000397032.8:c.1222G>T	ENSP00000380226.3:p.Val408Phe
ENST00000436370.7:c.1153G>T	ENSP00000391890.2:p.Val385Phe
ENST00000589598.5:n.70G>T
ENST00000591968.1:n.417G>T
ENST00000593085.1:n.1232G>T
NM_000285.3:c.1345G>T	NP_000276.2:p.Val449Phe
NM_001166056.1:c.1222G>T	NP_001159528.1:p.Val408Phe
NM_001166057.1:c.1153G>T	NP_001159529.1:p.Val385Phe
NM_000285.4:c.1345G>T MANE Select	NP_000276.2:p.Val449Phe
NM_001166056.2:c.1222G>T	NP_001159528.1:p.Val408Phe
NM_001166057.2:c.1153G>T	NP_001159529.1:p.Val385Phe