Canonical Allele Identifier: CA9364208

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33463006A>G , CM000681.2:g.33463006A>G	GRCh38
NC_000019.9:g.33953912A>G , CM000681.1:g.33953912A>G	GRCh37
NC_000019.8:g.38645752A>G	NCBI36
NG_013358.1:g.63888T>C
NG_013358.2:g.63888T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.660T>C	ENSP00000468516.4:p.Tyr220=
ENST00000651646.2:c.660T>C	ENSP00000498950.2:p.Tyr220=
ENST00000651901.2:c.660T>C	ENSP00000498922.2:p.Tyr220=
ENST00000698359.1:c.615T>C	ENSP00000513682.1:p.Tyr205=
ENST00000698360.1:c.660T>C	ENSP00000513683.1:p.Tyr220=
ENST00000698361.1:c.660T>C	ENSP00000513684.1:p.Tyr220=
ENST00000698362.1:c.660T>C	ENSP00000513685.1:p.Tyr220=
ENST00000698363.1:n.723T>C
ENST00000698364.1:n.723T>C
ENST00000698365.1:n.723T>C
ENST00000698426.1:c.339T>C	ENSP00000513713.1:p.Tyr113=
ENST00000698427.1:c.702T>C	ENSP00000513714.1:p.Tyr234=
ENST00000698428.1:c.339T>C	ENSP00000513715.1:p.Tyr113=
ENST00000698430.1:c.910T>C
ENST00000698431.1:c.397T>C	ENSP00000513717.1:n.397T>C
ENST00000698432.1:c.469T>C
ENST00000698435.1:c.348T>C	ENSP00000513719.1:p.Tyr116=
ENST00000698436.1:c.*272T>C	ENSP00000513720.1:n.*272T>C
ENST00000698437.1:n.643T>C
ENST00000698438.1:n.642T>C
ENST00000698439.1:c.517T>C	ENSP00000513721.1:n.517T>C
ENST00000244137.12:c.660T>C MANE Select	ENSP00000244137.5:p.Tyr220=
ENST00000588328.6:c.649T>C
ENST00000590731.6:n.335T>C
ENST00000651646.1:c.658T>C
ENST00000651901.1:c.656T>C
ENST00000244137.11:c.660T>C	ENSP00000244137.5:p.Tyr220=
ENST00000397032.8:c.548+15040T>C	ENSP00000380226.3:n.548+15040T>C
ENST00000436370.7:c.468T>C	ENSP00000391890.2:p.Tyr156=
ENST00000588328.5:c.151T>C
ENST00000588719.5:n.295T>C
ENST00000590408.1:c.378T>C
ENST00000590731.5:n.335T>C
ENST00000590755.6:c.487T>C	ENSP00000476667.1:n.487T>C
ENST00000593163.5:n.825T>C
ENST00000609145.5:c.93T>C	ENSP00000476514.1:p.Tyr31=
NM_000285.3:c.660T>C	NP_000276.2:p.Tyr220=
NM_001166056.1:c.548+15040T>C	NP_001159528.1:n.548+15040T>C
NM_001166057.1:c.468T>C	NP_001159529.1:p.Tyr156=
NM_000285.4:c.660T>C MANE Select	NP_000276.2:p.Tyr220=
NM_001166056.2:c.548+15040T>C	NP_001159528.1:n.548+15040T>C
NM_001166057.2:c.468T>C	NP_001159529.1:p.Tyr156=