Canonical Allele Identifier: CA307568558

Gene: PEPD

Linked Data

• ClinVar Variation Id: 1510807
• ClinVar RCV Id: RCV002014140
• dbSNP Id: rs767937361
• gnomAD v2: 19-33878378-C-T
• gnomAD v3: 19-33387472-C-T
• gnomAD v4: 19-33387472-C-T
• MyVariant Identifiers: chr19:g.33878378C>T (hg19) ; chr19:g.33387472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387472C>T , CM000681.2:g.33387472C>T	GRCh38
NC_000019.9:g.33878378C>T , CM000681.1:g.33878378C>T	GRCh37
NC_000019.8:g.38570218C>T	NCBI36
NG_013358.1:g.139422G>A
NG_013358.2:g.139422G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.1420G>A	ENSP00000468516.4:p.Glu474Lys
ENST00000651901.2:c.1444G>A	ENSP00000498922.2:p.Glu482Lys
ENST00000698359.1:c.1309G>A	ENSP00000513682.1:p.Glu437Lys
ENST00000698360.1:c.1405G>A	ENSP00000513683.1:p.Glu469Lys
ENST00000698361.1:c.1470G>A	ENSP00000513684.1:p.Ser490=
ENST00000698362.1:c.*491G>A	ENSP00000513685.1:n.*491G>A
ENST00000698426.1:c.1033G>A	ENSP00000513713.1:p.Glu345Lys
ENST00000698427.1:c.1396G>A	ENSP00000513714.1:p.Glu466Lys
ENST00000698428.1:c.1033G>A	ENSP00000513715.1:p.Glu345Lys
ENST00000698429.1:n.1237G>A
ENST00000698430.1:c.1604G>A
ENST00000698431.1:c.1091G>A	ENSP00000513717.1:n.1091G>A
ENST00000698432.1:c.1163G>A
ENST00000698433.1:n.816G>A
ENST00000244137.12:c.1354G>A MANE Select	ENSP00000244137.5:p.Glu452Lys
ENST00000588328.6:c.1409G>A
ENST00000651901.1:c.1440G>A
ENST00000244137.11:c.1354G>A	ENSP00000244137.5:p.Glu452Lys
ENST00000397032.8:c.1231G>A	ENSP00000380226.3:p.Glu411Lys
ENST00000436370.7:c.1162G>A	ENSP00000391890.2:p.Glu388Lys
ENST00000589598.5:n.79G>A
ENST00000591968.1:n.426G>A
ENST00000593085.1:n.1241G>A
NM_000285.3:c.1354G>A	NP_000276.2:p.Glu452Lys
NM_001166056.1:c.1231G>A	NP_001159528.1:p.Glu411Lys
NM_001166057.1:c.1162G>A	NP_001159529.1:p.Glu388Lys
NM_000285.4:c.1354G>A MANE Select	NP_000276.2:p.Glu452Lys
NM_001166056.2:c.1231G>A	NP_001159528.1:p.Glu411Lys
NM_001166057.2:c.1162G>A	NP_001159529.1:p.Glu388Lys