Canonical Allele Identifier: CA405219685

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878344T>G (hg19) ; chr19:g.33387438T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387438T>G , CM000681.2:g.33387438T>G	GRCh38
NC_000019.9:g.33878344T>G , CM000681.1:g.33878344T>G	GRCh37
NC_000019.8:g.38570184T>G	NCBI36
NG_013358.1:g.139456A>C
NG_013358.2:g.139456A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1454A>C	ENSP00000468516.4:p.Glu485Ala
ENST00000651901.2:c.1478A>C	ENSP00000498922.2:p.Glu493Ala
ENST00000698359.1:c.1343A>C	ENSP00000513682.1:p.Glu448Ala
ENST00000698360.1:c.1439A>C	ENSP00000513683.1:p.Glu480Ala
ENST00000698361.1:c.*16A>C	ENSP00000513684.1:n.*16A>C
ENST00000698362.1:c.*525A>C	ENSP00000513685.1:n.*525A>C
ENST00000698426.1:c.1067A>C	ENSP00000513713.1:p.Glu356Ala
ENST00000698427.1:c.1430A>C	ENSP00000513714.1:p.Glu477Ala
ENST00000698428.1:c.1067A>C	ENSP00000513715.1:p.Glu356Ala
ENST00000698429.1:n.1271A>C
ENST00000698430.1:c.1638A>C
ENST00000698431.1:c.1125A>C	ENSP00000513717.1:n.1125A>C
ENST00000698432.1:c.1197A>C
ENST00000698433.1:n.850A>C
ENST00000244137.12:c.1388A>C MANE Select	ENSP00000244137.5:p.Glu463Ala
ENST00000588328.6:c.1443A>C
ENST00000651901.1:c.1474A>C
ENST00000244137.11:c.1388A>C	ENSP00000244137.5:p.Glu463Ala
ENST00000397032.8:c.1265A>C	ENSP00000380226.3:p.Glu422Ala
ENST00000436370.7:c.1196A>C	ENSP00000391890.2:p.Glu399Ala
ENST00000589598.5:n.113A>C
ENST00000591968.1:n.460A>C
ENST00000593085.1:n.1275A>C
NM_000285.3:c.1388A>C	NP_000276.2:p.Glu463Ala
NM_001166056.1:c.1265A>C	NP_001159528.1:p.Glu422Ala
NM_001166057.1:c.1196A>C	NP_001159529.1:p.Glu399Ala
NM_000285.4:c.1388A>C MANE Select	NP_000276.2:p.Glu463Ala
NM_001166056.2:c.1265A>C	NP_001159528.1:p.Glu422Ala
NM_001166057.2:c.1196A>C	NP_001159529.1:p.Glu399Ala