Canonical Allele Identifier: CA348363

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132626154C>T , CM000674.2:g.132626154C>T	GRCh38
NC_000012.11:g.133202740C>T , CM000674.1:g.133202740C>T	GRCh37
NC_000012.10:g.131712813C>T	NCBI36
NG_033840.1:g.66371G>A , LRG_789:g.66371G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.2032G>A	ENSP00000500921.1:n.2032G>A
ENST00000534922.6:n.407G>A
ENST00000544870.6:c.4147G>A	ENSP00000479927.2:n.4147G>A
ENST00000699981.1:n.4148G>A
ENST00000699982.1:c.6348G>A
ENST00000699983.1:c.7052G>A
ENST00000699984.1:c.6280G>A
ENST00000320574.10:c.6494G>A MANE Select	ENSP00000322570.5:p.Arg2165His
ENST00000434528.4:c.2032G>A	ENSP00000500921.1:n.2032G>A
ENST00000672002.1:c.4167G>A	ENSP00000500233.1:n.4167G>A
ENST00000672742.1:c.*6700G>A	ENSP00000500279.1:n.*6700G>A
ENST00000320574.9:c.6494G>A	ENSP00000322570.5:p.Arg2165His
ENST00000534922.5:n.407G>A
ENST00000535270.5:c.6413G>A	ENSP00000445753.1:p.Arg2138His
ENST00000537064.5:c.*6245G>A	ENSP00000442578.1:n.*6245G>A
ENST00000538196.1:n.266G>A
ENST00000544692.5:n.1863G>A
NM_006231.3:c.6494G>A , LRG_789t1:c.6494G>A	NP_006222.2:p.Arg2165His
XM_011534795.1:c.6494G>A	XP_011533097.1:p.Arg2165His
XM_011534796.1:c.6365G>A	XP_011533098.1:p.Arg2122His
XM_011534797.1:c.5573G>A	XP_011533099.1:p.Arg1858His
XM_011534798.1:c.5156G>A	XP_011533100.1:p.Arg1719His
XM_011534802.1:c.3482G>A	XP_011533104.1:p.Arg1161His
XM_011534795.3:c.6494G>A	XP_011533097.1:p.Arg2165His
XM_011534797.3:c.5573G>A	XP_011533099.1:p.Arg1858His
XM_011534802.3:c.3482G>A	XP_011533104.1:p.Arg1161His
XR_002957339.1:n.7040G>A
NM_006231.4:c.6494G>A MANE Select	NP_006222.2:p.Arg2165His