Canonical Allele Identifier: CA9364151

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33411746A>G , CM000681.2:g.33411746A>G	GRCh38
NC_000019.9:g.33902652A>G , CM000681.1:g.33902652A>G	GRCh37
NC_000019.8:g.38594492A>G	NCBI36
NG_013358.1:g.115148T>C
NG_013358.2:g.115148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.744T>C	ENSP00000468516.4:p.Gly248=
ENST00000651901.2:c.744T>C	ENSP00000498922.2:p.Gly248=
ENST00000698359.1:c.699T>C	ENSP00000513682.1:p.Gly233=
ENST00000698360.1:c.795T>C	ENSP00000513683.1:p.Gly265=
ENST00000698361.1:c.744T>C	ENSP00000513684.1:p.Gly248=
ENST00000698362.1:c.744T>C	ENSP00000513685.1:p.Gly248=
ENST00000698363.1:n.807T>C
ENST00000698364.1:n.807T>C
ENST00000698365.1:n.807T>C
ENST00000698426.1:c.423T>C	ENSP00000513713.1:p.Gly141=
ENST00000698427.1:c.786T>C	ENSP00000513714.1:p.Gly262=
ENST00000698428.1:c.423T>C	ENSP00000513715.1:p.Gly141=
ENST00000698429.1:n.627T>C
ENST00000698430.1:c.994T>C
ENST00000698431.1:c.481T>C	ENSP00000513717.1:n.481T>C
ENST00000698432.1:c.553T>C
ENST00000698433.1:n.206T>C
ENST00000698434.1:n.231T>C
ENST00000698435.1:c.432T>C	ENSP00000513719.1:p.Gly144=
ENST00000244137.12:c.744T>C MANE Select	ENSP00000244137.5:p.Gly248=
ENST00000588328.6:c.733T>C
ENST00000590731.6:n.419T>C
ENST00000651901.1:c.740T>C
ENST00000244137.11:c.744T>C	ENSP00000244137.5:p.Gly248=
ENST00000397032.8:c.621T>C	ENSP00000380226.3:p.Gly207=
ENST00000436370.7:c.552T>C	ENSP00000391890.2:p.Gly184=
ENST00000588328.5:c.235T>C
ENST00000588719.5:n.379T>C
ENST00000590731.5:n.419T>C
ENST00000593163.5:n.909T>C
ENST00000609145.5:c.177T>C	ENSP00000476514.1:p.Gly59=
NM_000285.3:c.744T>C	NP_000276.2:p.Gly248=
NM_001166056.1:c.621T>C	NP_001159528.1:p.Gly207=
NM_001166057.1:c.552T>C	NP_001159529.1:p.Gly184=
NM_000285.4:c.744T>C MANE Select	NP_000276.2:p.Gly248=
NM_001166056.2:c.621T>C	NP_001159528.1:p.Gly207=
NM_001166057.2:c.552T>C	NP_001159529.1:p.Gly184=