Canonical Allele Identifier: CA506686811

Gene: PEPD

Linked Data

• ClinVar Variation Id: 2720301
• ClinVar RCV Id: RCV003554005
• MyVariant Identifiers: chr19:g.33878367G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387461G>C , CM000681.2:g.33387461G>C	GRCh38
NC_000019.9:g.33878367G>C , CM000681.1:g.33878367G>C	GRCh37
NC_000019.8:g.38570207G>C	NCBI36
NG_013358.1:g.139433C>G
NG_013358.2:g.139433C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1431C>G	ENSP00000468516.4:p.Val477=
ENST00000651901.2:c.1455C>G	ENSP00000498922.2:p.Val485=
ENST00000698359.1:c.1320C>G	ENSP00000513682.1:p.Val440=
ENST00000698360.1:c.1416C>G	ENSP00000513683.1:p.Val472=
ENST00000698361.1:c.1481C>G	ENSP00000513684.1:p.Ser494Trp
ENST00000698362.1:c.*502C>G	ENSP00000513685.1:n.*502C>G
ENST00000698426.1:c.1044C>G	ENSP00000513713.1:p.Val348=
ENST00000698427.1:c.1407C>G	ENSP00000513714.1:p.Val469=
ENST00000698428.1:c.1044C>G	ENSP00000513715.1:p.Val348=
ENST00000698429.1:n.1248C>G
ENST00000698430.1:c.1615C>G
ENST00000698431.1:c.1102C>G	ENSP00000513717.1:n.1102C>G
ENST00000698432.1:c.1174C>G
ENST00000698433.1:n.827C>G
ENST00000244137.12:c.1365C>G MANE Select	ENSP00000244137.5:p.Val455=
ENST00000588328.6:c.1420C>G
ENST00000651901.1:c.1451C>G
ENST00000244137.11:c.1365C>G	ENSP00000244137.5:p.Val455=
ENST00000397032.8:c.1242C>G	ENSP00000380226.3:p.Val414=
ENST00000436370.7:c.1173C>G	ENSP00000391890.2:p.Val391=
ENST00000589598.5:n.90C>G
ENST00000591968.1:n.437C>G
ENST00000593085.1:n.1252C>G
NM_000285.3:c.1365C>G	NP_000276.2:p.Val455=
NM_001166056.1:c.1242C>G	NP_001159528.1:p.Val414=
NM_001166057.1:c.1173C>G	NP_001159529.1:p.Val391=
NM_000285.4:c.1365C>G MANE Select	NP_000276.2:p.Val455=
NM_001166056.2:c.1242C>G	NP_001159528.1:p.Val414=
NM_001166057.2:c.1173C>G	NP_001159529.1:p.Val391=