Canonical Allele Identifier: CA506686748

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878280C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387374C>T , CM000681.2:g.33387374C>T	GRCh38
NC_000019.9:g.33878280C>T , CM000681.1:g.33878280C>T	GRCh37
NC_000019.8:g.38570120C>T	NCBI36
NG_013358.1:g.139520G>A
NG_013358.2:g.139520G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.1518G>A	ENSP00000468516.4:p.Lys506=
ENST00000651901.2:c.1542G>A	ENSP00000498922.2:p.Lys514=
ENST00000698359.1:c.1407G>A	ENSP00000513682.1:p.Lys469=
ENST00000698360.1:c.1503G>A	ENSP00000513683.1:p.Lys501=
ENST00000698361.1:c.*80G>A	ENSP00000513684.1:n.*80G>A
ENST00000698362.1:c.*589G>A	ENSP00000513685.1:n.*589G>A
ENST00000698426.1:c.1131G>A	ENSP00000513713.1:p.Lys377=
ENST00000698427.1:c.1494G>A	ENSP00000513714.1:p.Lys498=
ENST00000698428.1:c.1131G>A	ENSP00000513715.1:p.Lys377=
ENST00000698429.1:n.1335G>A
ENST00000698430.1:c.1702G>A
ENST00000698431.1:c.1189G>A	ENSP00000513717.1:n.1189G>A
ENST00000698432.1:c.1261G>A
ENST00000698433.1:n.914G>A
ENST00000244137.12:c.1452G>A MANE Select	ENSP00000244137.5:p.Lys484=
ENST00000588328.6:c.1507G>A
ENST00000651901.1:c.1538G>A
ENST00000244137.11:c.1452G>A	ENSP00000244137.5:p.Lys484=
ENST00000397032.8:c.1329G>A	ENSP00000380226.3:p.Lys443=
ENST00000436370.7:c.1260G>A	ENSP00000391890.2:p.Lys420=
ENST00000589598.5:n.177G>A
ENST00000591968.1:n.524G>A
ENST00000593085.1:n.1339G>A
NM_000285.3:c.1452G>A	NP_000276.2:p.Lys484=
NM_001166056.1:c.1329G>A	NP_001159528.1:p.Lys443=
NM_001166057.1:c.1260G>A	NP_001159529.1:p.Lys420=
NM_000285.4:c.1452G>A MANE Select	NP_000276.2:p.Lys484=
NM_001166056.2:c.1329G>A	NP_001159528.1:p.Lys443=
NM_001166057.2:c.1260G>A	NP_001159529.1:p.Lys420=