Canonical Allele Identifier: CA9363870

Gene: PEPD

Linked Data

• ClinVar Variation Id: 328784
• ClinVar RCV Id: RCV000397948 ; RCV002057492
• dbSNP Id: rs201222933
• ExAC: 19:33878347 A / G
• gnomAD v2: 19-33878347-A-G
• gnomAD v3: 19-33387441-A-G
• gnomAD v4: 19-33387441-A-G
• MyVariant Identifiers: chr19:g.33878347A>G (hg19) ; chr19:g.33387441A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387441A>G , CM000681.2:g.33387441A>G	GRCh38
NC_000019.9:g.33878347A>G , CM000681.1:g.33878347A>G	GRCh37
NC_000019.8:g.38570187A>G	NCBI36
NG_013358.1:g.139453T>C
NG_013358.2:g.139453T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1451T>C	ENSP00000468516.4:p.Ile484Thr
ENST00000651901.2:c.1475T>C	ENSP00000498922.2:p.Ile492Thr
ENST00000698359.1:c.1340T>C	ENSP00000513682.1:p.Ile447Thr
ENST00000698360.1:c.1436T>C	ENSP00000513683.1:p.Ile479Thr
ENST00000698361.1:c.*13T>C	ENSP00000513684.1:n.*13T>C
ENST00000698362.1:c.*522T>C	ENSP00000513685.1:n.*522T>C
ENST00000698426.1:c.1064T>C	ENSP00000513713.1:p.Ile355Thr
ENST00000698427.1:c.1427T>C	ENSP00000513714.1:p.Ile476Thr
ENST00000698428.1:c.1064T>C	ENSP00000513715.1:p.Ile355Thr
ENST00000698429.1:n.1268T>C
ENST00000698430.1:c.1635T>C
ENST00000698431.1:c.1122T>C	ENSP00000513717.1:n.1122T>C
ENST00000698432.1:c.1194T>C
ENST00000698433.1:n.847T>C
ENST00000244137.12:c.1385T>C MANE Select	ENSP00000244137.5:p.Ile462Thr
ENST00000588328.6:c.1440T>C
ENST00000651901.1:c.1471T>C
ENST00000244137.11:c.1385T>C	ENSP00000244137.5:p.Ile462Thr
ENST00000397032.8:c.1262T>C	ENSP00000380226.3:p.Ile421Thr
ENST00000436370.7:c.1193T>C	ENSP00000391890.2:p.Ile398Thr
ENST00000589598.5:n.110T>C
ENST00000591968.1:n.457T>C
ENST00000593085.1:n.1272T>C
NM_000285.3:c.1385T>C	NP_000276.2:p.Ile462Thr
NM_001166056.1:c.1262T>C	NP_001159528.1:p.Ile421Thr
NM_001166057.1:c.1193T>C	NP_001159529.1:p.Ile398Thr
NM_000285.4:c.1385T>C MANE Select	NP_000276.2:p.Ile462Thr
NM_001166056.2:c.1262T>C	NP_001159528.1:p.Ile421Thr
NM_001166057.2:c.1193T>C	NP_001159529.1:p.Ile398Thr