Canonical Allele Identifier: CA2332735664

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464017G= , CM000681.2:g.33464017G=	GRCh38
NC_000019.9:g.33954923G= , CM000681.1:g.33954923G=	GRCh37
NC_000019.8:g.38646763G=	NCBI36
NG_013358.1:g.62877C=
NG_013358.2:g.62877C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.594C=	ENSP00000468516.4:p.Thr198=
ENST00000651646.2:c.594C=	ENSP00000498950.2:p.Thr198=
ENST00000651901.2:c.594C=	ENSP00000498922.2:p.Thr198=
ENST00000698359.1:c.549C=	ENSP00000513682.1:p.Thr183=
ENST00000698360.1:c.594C=	ENSP00000513683.1:p.Thr198=
ENST00000698361.1:c.594C=	ENSP00000513684.1:p.Thr198=
ENST00000698362.1:c.594C=	ENSP00000513685.1:p.Thr198=
ENST00000698363.1:n.657C=
ENST00000698364.1:n.657C=
ENST00000698365.1:n.657C=
ENST00000698426.1:c.273C=	ENSP00000513713.1:p.Thr91=
ENST00000698427.1:c.636C=	ENSP00000513714.1:p.Thr212=
ENST00000698428.1:c.273C=	ENSP00000513715.1:p.Thr91=
ENST00000698430.1:c.844C=
ENST00000698431.1:c.331C=	ENSP00000513717.1:n.331C=
ENST00000698432.1:c.403C=
ENST00000698435.1:c.282C=	ENSP00000513719.1:p.Thr94=
ENST00000698436.1:c.*206C=	ENSP00000513720.1:n.*206C=
ENST00000698437.1:n.577C=
ENST00000698438.1:n.576C=
ENST00000698439.1:c.451C=	ENSP00000513721.1:n.451C=
ENST00000244137.12:c.594C= MANE Select	ENSP00000244137.5:p.Thr198=
ENST00000588328.6:c.583C=
ENST00000590731.6:n.269C=
ENST00000651646.1:c.592C=
ENST00000651901.1:c.590C=
ENST00000244137.11:c.594C=	ENSP00000244137.5:p.Thr198=
ENST00000397032.8:c.548+14029C=	ENSP00000380226.3:n.548+14029C=
ENST00000436370.7:c.402C=	ENSP00000391890.2:p.Thr134=
ENST00000588328.5:c.85C=
ENST00000588719.5:n.229C=
ENST00000590408.1:c.312C=
ENST00000590731.5:n.269C=
ENST00000590755.6:c.421C=	ENSP00000476667.1:n.421C=
ENST00000593163.5:n.759C=
ENST00000609145.5:c.27C=	ENSP00000476514.1:p.Thr9=
NM_000285.3:c.594C=	NP_000276.2:p.Thr198=
NM_001166056.1:c.548+14029C=	NP_001159528.1:n.548+14029C=
NM_001166057.1:c.402C=	NP_001159529.1:p.Thr134=
NM_000285.4:c.594C= MANE Select	NP_000276.2:p.Thr198=
NM_001166056.2:c.548+14029C=	NP_001159528.1:n.548+14029C=
NM_001166057.2:c.402C=	NP_001159529.1:p.Thr134=