Canonical Allele Identifier: CA405224157

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892665A>T (hg19) ; chr19:g.33401759A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401759A>T , CM000681.2:g.33401759A>T	GRCh38
NC_000019.9:g.33892665A>T , CM000681.1:g.33892665A>T	GRCh37
NC_000019.8:g.38584505A>T	NCBI36
NG_013358.1:g.125135T>A
NG_013358.2:g.125135T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.929T>A	ENSP00000468516.4:p.Leu310Gln
ENST00000651901.2:c.929T>A	ENSP00000498922.2:p.Leu310Gln
ENST00000698359.1:c.884T>A	ENSP00000513682.1:p.Leu295Gln
ENST00000698360.1:c.980T>A	ENSP00000513683.1:p.Leu327Gln
ENST00000698361.1:c.929T>A	ENSP00000513684.1:p.Leu310Gln
ENST00000698362.1:c.929T>A	ENSP00000513685.1:p.Leu310Gln
ENST00000698363.1:n.992T>A
ENST00000698364.1:n.992T>A
ENST00000698365.1:n.992T>A
ENST00000698426.1:c.608T>A	ENSP00000513713.1:p.Leu203Gln
ENST00000698427.1:c.971T>A	ENSP00000513714.1:p.Leu324Gln
ENST00000698428.1:c.608T>A	ENSP00000513715.1:p.Leu203Gln
ENST00000698429.1:n.812T>A
ENST00000698430.1:c.1179T>A
ENST00000698431.1:c.666T>A	ENSP00000513717.1:n.666T>A
ENST00000698432.1:c.738T>A
ENST00000698433.1:n.391T>A
ENST00000698434.1:n.416T>A
ENST00000244137.12:c.929T>A MANE Select	ENSP00000244137.5:p.Leu310Gln
ENST00000588328.6:c.918T>A
ENST00000590731.6:n.604T>A
ENST00000651901.1:c.925T>A
ENST00000244137.11:c.929T>A	ENSP00000244137.5:p.Leu310Gln
ENST00000397032.8:c.806T>A	ENSP00000380226.3:p.Leu269Gln
ENST00000436370.7:c.737T>A	ENSP00000391890.2:p.Leu246Gln
ENST00000588328.5:c.420T>A
NM_000285.3:c.929T>A	NP_000276.2:p.Leu310Gln
NM_001166056.1:c.806T>A	NP_001159528.1:p.Leu269Gln
NM_001166057.1:c.737T>A	NP_001159529.1:p.Leu246Gln
NM_000285.4:c.929T>A MANE Select	NP_000276.2:p.Leu310Gln
NM_001166056.2:c.806T>A	NP_001159528.1:p.Leu269Gln
NM_001166057.2:c.737T>A	NP_001159529.1:p.Leu246Gln