Canonical Allele Identifier: CA405219765

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878381T>G (hg19) ; chr19:g.33387475T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387475T>G , CM000681.2:g.33387475T>G	GRCh38
NC_000019.9:g.33878381T>G , CM000681.1:g.33878381T>G	GRCh37
NC_000019.8:g.38570221T>G	NCBI36
NG_013358.1:g.139419A>C
NG_013358.2:g.139419A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.1417A>C	ENSP00000468516.4:p.Ile473Leu
ENST00000651901.2:c.1441A>C	ENSP00000498922.2:p.Ile481Leu
ENST00000698359.1:c.1306A>C	ENSP00000513682.1:p.Ile436Leu
ENST00000698360.1:c.1402A>C	ENSP00000513683.1:p.Ile468Leu
ENST00000698361.1:c.1467A>C	ENSP00000513684.1:p.Ala489=
ENST00000698362.1:c.*488A>C	ENSP00000513685.1:n.*488A>C
ENST00000698426.1:c.1030A>C	ENSP00000513713.1:p.Ile344Leu
ENST00000698427.1:c.1393A>C	ENSP00000513714.1:p.Ile465Leu
ENST00000698428.1:c.1030A>C	ENSP00000513715.1:p.Ile344Leu
ENST00000698429.1:n.1234A>C
ENST00000698430.1:c.1601A>C
ENST00000698431.1:c.1088A>C	ENSP00000513717.1:n.1088A>C
ENST00000698432.1:c.1160A>C
ENST00000698433.1:n.813A>C
ENST00000244137.12:c.1351A>C MANE Select	ENSP00000244137.5:p.Ile451Leu
ENST00000588328.6:c.1406A>C
ENST00000651901.1:c.1437A>C
ENST00000244137.11:c.1351A>C	ENSP00000244137.5:p.Ile451Leu
ENST00000397032.8:c.1228A>C	ENSP00000380226.3:p.Ile410Leu
ENST00000436370.7:c.1159A>C	ENSP00000391890.2:p.Ile387Leu
ENST00000589598.5:n.76A>C
ENST00000591968.1:n.423A>C
ENST00000593085.1:n.1238A>C
NM_000285.3:c.1351A>C	NP_000276.2:p.Ile451Leu
NM_001166056.1:c.1228A>C	NP_001159528.1:p.Ile410Leu
NM_001166057.1:c.1159A>C	NP_001159529.1:p.Ile387Leu
NM_000285.4:c.1351A>C MANE Select	NP_000276.2:p.Ile451Leu
NM_001166056.2:c.1228A>C	NP_001159528.1:p.Ile410Leu
NM_001166057.2:c.1159A>C	NP_001159529.1:p.Ile387Leu