Canonical Allele Identifier: CA9363924

Gene: PEPD

Linked Data

• ClinVar Variation Id: 328788
• ClinVar RCV Id: RCV000330861 ; RCV001516737
• dbSNP Id: rs369183873
• ExAC: 19:33878823 G / A
• gnomAD v2: 19-33878823-G-A
• gnomAD v3: 19-33387917-G-A
• gnomAD v4: 19-33387917-G-A
• MyVariant Identifiers: chr19:g.33878823G>A (hg19) ; chr19:g.33387917G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387917G>A , CM000681.2:g.33387917G>A	GRCh38
NC_000019.9:g.33878823G>A , CM000681.1:g.33878823G>A	GRCh37
NC_000019.8:g.38570663G>A	NCBI36
NG_013358.1:g.138977C>T
NG_013358.2:g.138977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1383C>T	ENSP00000468516.4:p.Val461=
ENST00000651901.2:c.1317C>T	ENSP00000498922.2:p.Val439=
ENST00000698359.1:c.1272C>T	ENSP00000513682.1:p.Val424=
ENST00000698360.1:c.1368C>T	ENSP00000513683.1:p.Val456=
ENST00000698361.1:c.1433C>T	ENSP00000513684.1:p.Ser478Phe
ENST00000698362.1:c.*46C>T	ENSP00000513685.1:n.*46C>T
ENST00000698426.1:c.996C>T	ENSP00000513713.1:p.Val332=
ENST00000698427.1:c.1359C>T	ENSP00000513714.1:p.Val453=
ENST00000698428.1:c.996C>T	ENSP00000513715.1:p.Val332=
ENST00000698429.1:n.1200C>T
ENST00000698430.1:c.1567C>T
ENST00000698431.1:c.1054C>T	ENSP00000513717.1:n.1054C>T
ENST00000698432.1:c.1126C>T
ENST00000698433.1:n.779C>T
ENST00000244137.12:c.1317C>T MANE Select	ENSP00000244137.5:p.Val439=
ENST00000588328.6:c.1372C>T
ENST00000651901.1:c.1313C>T
ENST00000244137.11:c.1317C>T	ENSP00000244137.5:p.Val439=
ENST00000397032.8:c.1194C>T	ENSP00000380226.3:p.Val398=
ENST00000436370.7:c.1125C>T	ENSP00000391890.2:p.Val375=
ENST00000591968.1:n.389C>T
ENST00000593085.1:n.1204C>T
NM_000285.3:c.1317C>T	NP_000276.2:p.Val439=
NM_001166056.1:c.1194C>T	NP_001159528.1:p.Val398=
NM_001166057.1:c.1125C>T	NP_001159529.1:p.Val375=
NM_000285.4:c.1317C>T MANE Select	NP_000276.2:p.Val439=
NM_001166056.2:c.1194C>T	NP_001159528.1:p.Val398=
NM_001166057.2:c.1125C>T	NP_001159529.1:p.Val375=