Canonical Allele Identifier: CA9363867

Gene: PEPD

Linked Data

• ClinVar Variation Id: 2160305
• ClinVar RCV Id: RCV003075881 ; RCV004071928
• dbSNP Id: rs762921626
• ExAC: 19:33878330 C / T
• gnomAD v2: 19-33878330-C-T
• gnomAD v4: 19-33387424-C-T
• MyVariant Identifiers: chr19:g.33878330C>T (hg19) ; chr19:g.33387424C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387424C>T , CM000681.2:g.33387424C>T	GRCh38
NC_000019.9:g.33878330C>T , CM000681.1:g.33878330C>T	GRCh37
NC_000019.8:g.38570170C>T	NCBI36
NG_013358.1:g.139470G>A
NG_013358.2:g.139470G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1468G>A	ENSP00000468516.4:p.Val490Met
ENST00000651901.2:c.1492G>A	ENSP00000498922.2:p.Val498Met
ENST00000698359.1:c.1357G>A	ENSP00000513682.1:p.Val453Met
ENST00000698360.1:c.1453G>A	ENSP00000513683.1:p.Val485Met
ENST00000698361.1:c.*30G>A	ENSP00000513684.1:n.*30G>A
ENST00000698362.1:c.*539G>A	ENSP00000513685.1:n.*539G>A
ENST00000698426.1:c.1081G>A	ENSP00000513713.1:p.Val361Met
ENST00000698427.1:c.1444G>A	ENSP00000513714.1:p.Val482Met
ENST00000698428.1:c.1081G>A	ENSP00000513715.1:p.Val361Met
ENST00000698429.1:n.1285G>A
ENST00000698430.1:c.1652G>A
ENST00000698431.1:c.1139G>A	ENSP00000513717.1:n.1139G>A
ENST00000698432.1:c.1211G>A
ENST00000698433.1:n.864G>A
ENST00000244137.12:c.1402G>A MANE Select	ENSP00000244137.5:p.Val468Met
ENST00000588328.6:c.1457G>A
ENST00000651901.1:c.1488G>A
ENST00000244137.11:c.1402G>A	ENSP00000244137.5:p.Val468Met
ENST00000397032.8:c.1279G>A	ENSP00000380226.3:p.Val427Met
ENST00000436370.7:c.1210G>A	ENSP00000391890.2:p.Val404Met
ENST00000589598.5:n.127G>A
ENST00000591968.1:n.474G>A
ENST00000593085.1:n.1289G>A
NM_000285.3:c.1402G>A	NP_000276.2:p.Val468Met
NM_001166056.1:c.1279G>A	NP_001159528.1:p.Val427Met
NM_001166057.1:c.1210G>A	NP_001159529.1:p.Val404Met
NM_000285.4:c.1402G>A MANE Select	NP_000276.2:p.Val468Met
NM_001166056.2:c.1279G>A	NP_001159528.1:p.Val427Met
NM_001166057.2:c.1210G>A	NP_001159529.1:p.Val404Met