Canonical Allele Identifier: CA405219730

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878368A>G (hg19) ; chr19:g.33387462A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387462A>G , CM000681.2:g.33387462A>G	GRCh38
NC_000019.9:g.33878368A>G , CM000681.1:g.33878368A>G	GRCh37
NC_000019.8:g.38570208A>G	NCBI36
NG_013358.1:g.139432T>C
NG_013358.2:g.139432T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1430T>C	ENSP00000468516.4:p.Val477Ala
ENST00000651901.2:c.1454T>C	ENSP00000498922.2:p.Val485Ala
ENST00000698359.1:c.1319T>C	ENSP00000513682.1:p.Val440Ala
ENST00000698360.1:c.1415T>C	ENSP00000513683.1:p.Val472Ala
ENST00000698361.1:c.1480T>C	ENSP00000513684.1:p.Ser494Pro
ENST00000698362.1:c.*501T>C	ENSP00000513685.1:n.*501T>C
ENST00000698426.1:c.1043T>C	ENSP00000513713.1:p.Val348Ala
ENST00000698427.1:c.1406T>C	ENSP00000513714.1:p.Val469Ala
ENST00000698428.1:c.1043T>C	ENSP00000513715.1:p.Val348Ala
ENST00000698429.1:n.1247T>C
ENST00000698430.1:c.1614T>C
ENST00000698431.1:c.1101T>C	ENSP00000513717.1:n.1101T>C
ENST00000698432.1:c.1173T>C
ENST00000698433.1:n.826T>C
ENST00000244137.12:c.1364T>C MANE Select	ENSP00000244137.5:p.Val455Ala
ENST00000588328.6:c.1419T>C
ENST00000651901.1:c.1450T>C
ENST00000244137.11:c.1364T>C	ENSP00000244137.5:p.Val455Ala
ENST00000397032.8:c.1241T>C	ENSP00000380226.3:p.Val414Ala
ENST00000436370.7:c.1172T>C	ENSP00000391890.2:p.Val391Ala
ENST00000589598.5:n.89T>C
ENST00000591968.1:n.436T>C
ENST00000593085.1:n.1251T>C
NM_000285.3:c.1364T>C	NP_000276.2:p.Val455Ala
NM_001166056.1:c.1241T>C	NP_001159528.1:p.Val414Ala
NM_001166057.1:c.1172T>C	NP_001159529.1:p.Val391Ala
NM_000285.4:c.1364T>C MANE Select	NP_000276.2:p.Val455Ala
NM_001166056.2:c.1241T>C	NP_001159528.1:p.Val414Ala
NM_001166057.2:c.1172T>C	NP_001159529.1:p.Val391Ala