Canonical Allele Identifier: CA405219773

Gene: PEPD

Linked Data

• dbSNP Id: rs1277057420
• gnomAD v2: 19-33878383-C-T
• gnomAD v3: 19-33387477-C-T
• gnomAD v4: 19-33387477-C-T
• COSMIC: COSM3959911
• MyVariant Identifiers: chr19:g.33878383C>T (hg19) ; chr19:g.33387477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387477C>T , CM000681.2:g.33387477C>T	GRCh38
NC_000019.9:g.33878383C>T , CM000681.1:g.33878383C>T	GRCh37
NC_000019.8:g.38570223C>T	NCBI36
NG_013358.1:g.139417G>A
NG_013358.2:g.139417G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.1415G>A	ENSP00000468516.4:p.Arg472His
ENST00000651901.2:c.1439G>A	ENSP00000498922.2:p.Arg480His
ENST00000698359.1:c.1304G>A	ENSP00000513682.1:p.Arg435His
ENST00000698360.1:c.1400G>A	ENSP00000513683.1:p.Arg467His
ENST00000698361.1:c.1465G>A	ENSP00000513684.1:p.Ala489Thr
ENST00000698362.1:c.*486G>A	ENSP00000513685.1:n.*486G>A
ENST00000698426.1:c.1028G>A	ENSP00000513713.1:p.Arg343His
ENST00000698427.1:c.1391G>A	ENSP00000513714.1:p.Arg464His
ENST00000698428.1:c.1028G>A	ENSP00000513715.1:p.Arg343His
ENST00000698429.1:n.1232G>A
ENST00000698430.1:c.1599G>A
ENST00000698431.1:c.1086G>A	ENSP00000513717.1:n.1086G>A
ENST00000698432.1:c.1158G>A
ENST00000698433.1:n.811G>A
ENST00000244137.12:c.1349G>A MANE Select	ENSP00000244137.5:p.Arg450His
ENST00000588328.6:c.1404G>A
ENST00000651901.1:c.1435G>A
ENST00000244137.11:c.1349G>A	ENSP00000244137.5:p.Arg450His
ENST00000397032.8:c.1226G>A	ENSP00000380226.3:p.Arg409His
ENST00000436370.7:c.1157G>A	ENSP00000391890.2:p.Arg386His
ENST00000589598.5:n.74G>A
ENST00000591968.1:n.421G>A
ENST00000593085.1:n.1236G>A
NM_000285.3:c.1349G>A	NP_000276.2:p.Arg450His
NM_001166056.1:c.1226G>A	NP_001159528.1:p.Arg409His
NM_001166057.1:c.1157G>A	NP_001159529.1:p.Arg386His
NM_000285.4:c.1349G>A MANE Select	NP_000276.2:p.Arg450His
NM_001166056.2:c.1226G>A	NP_001159528.1:p.Arg409His
NM_001166057.2:c.1157G>A	NP_001159529.1:p.Arg386His