Canonical Allele Identifier: CA2073001083

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672260C= , CM000674.2:g.132672260C=	GRCh38
NC_000012.11:g.133248846C= , CM000674.1:g.133248846C=	GRCh37
NC_000012.10:g.131758919C=	NCBI36
NG_033840.1:g.20265G= , LRG_789:g.20265G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.504G=
ENST00000699982.1:c.1603G=
ENST00000699983.1:c.1603G=
ENST00000699984.1:c.1603G=
ENST00000320574.10:c.1749G= MANE Select	ENSP00000322570.5:p.Glu583=
ENST00000672742.1:c.*1251G=	ENSP00000500279.1:n.*1251G=
ENST00000320574.9:c.1749G=	ENSP00000322570.5:p.Glu583=
ENST00000535270.5:c.1668G=	ENSP00000445753.1:p.Glu556=
ENST00000537064.5:c.*796G=	ENSP00000442578.1:n.*796G=
NM_006231.3:c.1749G= , LRG_789t1:c.1749G=	NP_006222.2:p.Glu583=
XM_011534795.1:c.1749G=	XP_011533097.1:p.Glu583=
XM_011534796.1:c.1620G=	XP_011533098.1:p.Glu540=
XM_011534797.1:c.828G=	XP_011533099.1:p.Glu276=
XM_011534798.1:c.411G=	XP_011533100.1:p.Glu137=
XM_011534799.1:c.1749G=	XP_011533101.1:p.Glu583=
XM_011534800.1:c.1749G=	XP_011533102.1:p.Glu583=
XM_011534801.1:c.1749G=	XP_011533103.1:p.Glu583=
XR_941395.1:n.1958G=
XM_011534795.3:c.1749G=	XP_011533097.1:p.Glu583=
XM_011534797.3:c.828G=	XP_011533099.1:p.Glu276=
XM_011534799.2:c.1749G=	XP_011533101.1:p.Glu583=
XR_002957338.1:n.1953G=
XR_002957339.1:n.1953G=
XR_941395.2:n.1953G=
NM_006231.4:c.1749G= MANE Select	NP_006222.2:p.Glu583=