Canonical Allele Identifier: CA506686822

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878376C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387470C>T , CM000681.2:g.33387470C>T	GRCh38
NC_000019.9:g.33878376C>T , CM000681.1:g.33878376C>T	GRCh37
NC_000019.8:g.38570216C>T	NCBI36
NG_013358.1:g.139424G>A
NG_013358.2:g.139424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1422G>A	ENSP00000468516.4:p.Glu474=
ENST00000651901.2:c.1446G>A	ENSP00000498922.2:p.Glu482=
ENST00000698359.1:c.1311G>A	ENSP00000513682.1:p.Glu437=
ENST00000698360.1:c.1407G>A	ENSP00000513683.1:p.Glu469=
ENST00000698361.1:c.1472G>A	ENSP00000513684.1:p.Arg491Lys
ENST00000698362.1:c.*493G>A	ENSP00000513685.1:n.*493G>A
ENST00000698426.1:c.1035G>A	ENSP00000513713.1:p.Glu345=
ENST00000698427.1:c.1398G>A	ENSP00000513714.1:p.Glu466=
ENST00000698428.1:c.1035G>A	ENSP00000513715.1:p.Glu345=
ENST00000698429.1:n.1239G>A
ENST00000698430.1:c.1606G>A
ENST00000698431.1:c.1093G>A	ENSP00000513717.1:n.1093G>A
ENST00000698432.1:c.1165G>A
ENST00000698433.1:n.818G>A
ENST00000244137.12:c.1356G>A MANE Select	ENSP00000244137.5:p.Glu452=
ENST00000588328.6:c.1411G>A
ENST00000651901.1:c.1442G>A
ENST00000244137.11:c.1356G>A	ENSP00000244137.5:p.Glu452=
ENST00000397032.8:c.1233G>A	ENSP00000380226.3:p.Glu411=
ENST00000436370.7:c.1164G>A	ENSP00000391890.2:p.Glu388=
ENST00000589598.5:n.81G>A
ENST00000591968.1:n.428G>A
ENST00000593085.1:n.1243G>A
NM_000285.3:c.1356G>A	NP_000276.2:p.Glu452=
NM_001166056.1:c.1233G>A	NP_001159528.1:p.Glu411=
NM_001166057.1:c.1164G>A	NP_001159529.1:p.Glu388=
NM_000285.4:c.1356G>A MANE Select	NP_000276.2:p.Glu452=
NM_001166056.2:c.1233G>A	NP_001159528.1:p.Glu411=
NM_001166057.2:c.1164G>A	NP_001159529.1:p.Glu388=