Canonical Allele Identifier: CA506686825

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878379G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387473G>T , CM000681.2:g.33387473G>T	GRCh38
NC_000019.9:g.33878379G>T , CM000681.1:g.33878379G>T	GRCh37
NC_000019.8:g.38570219G>T	NCBI36
NG_013358.1:g.139421C>A
NG_013358.2:g.139421C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1419C>A	ENSP00000468516.4:p.Ile473=
ENST00000651901.2:c.1443C>A	ENSP00000498922.2:p.Ile481=
ENST00000698359.1:c.1308C>A	ENSP00000513682.1:p.Ile436=
ENST00000698360.1:c.1404C>A	ENSP00000513683.1:p.Ile468=
ENST00000698361.1:c.1469C>A	ENSP00000513684.1:p.Ser490Ter
ENST00000698362.1:c.*490C>A	ENSP00000513685.1:n.*490C>A
ENST00000698426.1:c.1032C>A	ENSP00000513713.1:p.Ile344=
ENST00000698427.1:c.1395C>A	ENSP00000513714.1:p.Ile465=
ENST00000698428.1:c.1032C>A	ENSP00000513715.1:p.Ile344=
ENST00000698429.1:n.1236C>A
ENST00000698430.1:c.1603C>A
ENST00000698431.1:c.1090C>A	ENSP00000513717.1:n.1090C>A
ENST00000698432.1:c.1162C>A
ENST00000698433.1:n.815C>A
ENST00000244137.12:c.1353C>A MANE Select	ENSP00000244137.5:p.Ile451=
ENST00000588328.6:c.1408C>A
ENST00000651901.1:c.1439C>A
ENST00000244137.11:c.1353C>A	ENSP00000244137.5:p.Ile451=
ENST00000397032.8:c.1230C>A	ENSP00000380226.3:p.Ile410=
ENST00000436370.7:c.1161C>A	ENSP00000391890.2:p.Ile387=
ENST00000589598.5:n.78C>A
ENST00000591968.1:n.425C>A
ENST00000593085.1:n.1240C>A
NM_000285.3:c.1353C>A	NP_000276.2:p.Ile451=
NM_001166056.1:c.1230C>A	NP_001159528.1:p.Ile410=
NM_001166057.1:c.1161C>A	NP_001159529.1:p.Ile387=
NM_000285.4:c.1353C>A MANE Select	NP_000276.2:p.Ile451=
NM_001166056.2:c.1230C>A	NP_001159528.1:p.Ile410=
NM_001166057.2:c.1161C>A	NP_001159529.1:p.Ile387=