Canonical Allele Identifier: CA506686742

Gene: PEPD

Linked Data

• ClinVar Variation Id: 2992264
• ClinVar RCV Id: RCV003855391
• MyVariant Identifiers: chr19:g.33878271G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387365G>C , CM000681.2:g.33387365G>C	GRCh38
NC_000019.9:g.33878271G>C , CM000681.1:g.33878271G>C	GRCh37
NC_000019.8:g.38570111G>C	NCBI36
NG_013358.1:g.139529C>G
NG_013358.2:g.139529C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1527C>G	ENSP00000468516.4:p.Thr509=
ENST00000651901.2:c.1551C>G	ENSP00000498922.2:p.Thr517=
ENST00000698359.1:c.1416C>G	ENSP00000513682.1:p.Thr472=
ENST00000698360.1:c.1512C>G	ENSP00000513683.1:p.Thr504=
ENST00000698361.1:c.*89C>G	ENSP00000513684.1:n.*89C>G
ENST00000698362.1:c.*598C>G	ENSP00000513685.1:n.*598C>G
ENST00000698426.1:c.1140C>G	ENSP00000513713.1:p.Thr380=
ENST00000698427.1:c.1503C>G	ENSP00000513714.1:p.Thr501=
ENST00000698428.1:c.1140C>G	ENSP00000513715.1:p.Thr380=
ENST00000698429.1:n.1344C>G
ENST00000698430.1:c.1711C>G
ENST00000698431.1:c.1198C>G	ENSP00000513717.1:n.1198C>G
ENST00000698432.1:c.1270C>G
ENST00000698433.1:n.923C>G
ENST00000244137.12:c.1461C>G MANE Select	ENSP00000244137.5:p.Thr487=
ENST00000588328.6:c.1516C>G
ENST00000651901.1:c.1547C>G
ENST00000244137.11:c.1461C>G	ENSP00000244137.5:p.Thr487=
ENST00000397032.8:c.1338C>G	ENSP00000380226.3:p.Thr446=
ENST00000436370.7:c.1269C>G	ENSP00000391890.2:p.Thr423=
ENST00000589598.5:n.186C>G
ENST00000591968.1:n.533C>G
ENST00000593085.1:n.1348C>G
NM_000285.3:c.1461C>G	NP_000276.2:p.Thr487=
NM_001166056.1:c.1338C>G	NP_001159528.1:p.Thr446=
NM_001166057.1:c.1269C>G	NP_001159529.1:p.Thr423=
NM_000285.4:c.1461C>G MANE Select	NP_000276.2:p.Thr487=
NM_001166056.2:c.1338C>G	NP_001159528.1:p.Thr446=
NM_001166057.2:c.1269C>G	NP_001159529.1:p.Thr423=