Canonical Allele Identifier: CA506686780

Gene: PEPD

Linked Data

• ClinVar Variation Id: 2999187
• ClinVar RCV Id: RCV003851818
• dbSNP Id: rs1253850333
• gnomAD v3: 19-33387425-G-A
• gnomAD v4: 19-33387425-G-A
• MyVariant Identifiers: chr19:g.33878331G>A (hg19) ; chr19:g.33387425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387425G>A , CM000681.2:g.33387425G>A	GRCh38
NC_000019.9:g.33878331G>A , CM000681.1:g.33878331G>A	GRCh37
NC_000019.8:g.38570171G>A	NCBI36
NG_013358.1:g.139469C>T
NG_013358.2:g.139469C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1467C>T	ENSP00000468516.4:p.Cys489=
ENST00000651901.2:c.1491C>T	ENSP00000498922.2:p.Cys497=
ENST00000698359.1:c.1356C>T	ENSP00000513682.1:p.Cys452=
ENST00000698360.1:c.1452C>T	ENSP00000513683.1:p.Cys484=
ENST00000698361.1:c.*29C>T	ENSP00000513684.1:n.*29C>T
ENST00000698362.1:c.*538C>T	ENSP00000513685.1:n.*538C>T
ENST00000698426.1:c.1080C>T	ENSP00000513713.1:p.Cys360=
ENST00000698427.1:c.1443C>T	ENSP00000513714.1:p.Cys481=
ENST00000698428.1:c.1080C>T	ENSP00000513715.1:p.Cys360=
ENST00000698429.1:n.1284C>T
ENST00000698430.1:c.1651C>T
ENST00000698431.1:c.1138C>T	ENSP00000513717.1:n.1138C>T
ENST00000698432.1:c.1210C>T
ENST00000698433.1:n.863C>T
ENST00000244137.12:c.1401C>T MANE Select	ENSP00000244137.5:p.Cys467=
ENST00000588328.6:c.1456C>T
ENST00000651901.1:c.1487C>T
ENST00000244137.11:c.1401C>T	ENSP00000244137.5:p.Cys467=
ENST00000397032.8:c.1278C>T	ENSP00000380226.3:p.Cys426=
ENST00000436370.7:c.1209C>T	ENSP00000391890.2:p.Cys403=
ENST00000589598.5:n.126C>T
ENST00000591968.1:n.473C>T
ENST00000593085.1:n.1288C>T
NM_000285.3:c.1401C>T	NP_000276.2:p.Cys467=
NM_001166056.1:c.1278C>T	NP_001159528.1:p.Cys426=
NM_001166057.1:c.1209C>T	NP_001159529.1:p.Cys403=
NM_000285.4:c.1401C>T MANE Select	NP_000276.2:p.Cys467=
NM_001166056.2:c.1278C>T	NP_001159528.1:p.Cys426=
NM_001166057.2:c.1209C>T	NP_001159529.1:p.Cys403=