Canonical Allele Identifier: CA6892121

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132625697G>A , CM000674.2:g.132625697G>A	GRCh38
NC_000012.11:g.133202283G>A , CM000674.1:g.133202283G>A	GRCh37
NC_000012.10:g.131712356G>A	NCBI36
NG_033840.1:g.66828C>T , LRG_789:g.66828C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.6605C>T MANE Select	NP_006222.2:p.Thr2202Met
ENST00000320574.10:c.6605C>T MANE Select	ENSP00000322570.5:p.Thr2202Met
NM_006231.3:c.6605C>T , LRG_789t1:c.6605C>T	NP_006222.2:p.Thr2202Met
ENST00000320574.9:c.6605C>T	ENSP00000322570.5:p.Thr2202Met
ENST00000434528.4:c.2143C>T	ENSP00000500921.1:n.2143C>T
ENST00000434528.5:c.2143C>T	ENSP00000500921.1:n.2143C>T
ENST00000534922.5:n.518C>T
ENST00000534922.6:n.518C>T
ENST00000535270.5:c.6524C>T	ENSP00000445753.1:p.Thr2175Met
ENST00000537064.5:c.*6356C>T	ENSP00000442578.1:n.*6356C>T
ENST00000538196.1:n.377C>T
ENST00000541627.2:n.255C>T
ENST00000544692.5:n.1974C>T
ENST00000544870.6:c.4258C>T	ENSP00000479927.2:n.4258C>T
ENST00000672002.1:c.4278C>T	ENSP00000500233.1:n.4278C>T
ENST00000672742.1:c.*6811C>T	ENSP00000500279.1:n.*6811C>T
ENST00000699981.1:n.4259C>T
ENST00000699982.1:c.6459C>T
ENST00000699983.1:c.7163C>T
ENST00000699984.1:c.6391C>T
XM_011534795.1:c.6605C>T	XP_011533097.1:p.Thr2202Met
XM_011534795.3:c.6605C>T	XP_011533097.1:p.Thr2202Met
XM_011534796.1:c.6476C>T	XP_011533098.1:p.Thr2159Met
XM_011534797.1:c.5684C>T	XP_011533099.1:p.Thr1895Met
XM_011534797.3:c.5684C>T	XP_011533099.1:p.Thr1895Met
XM_011534798.1:c.5267C>T	XP_011533100.1:p.Thr1756Met
XM_011534802.1:c.3593C>T	XP_011533104.1:p.Thr1198Met
XM_011534802.3:c.3593C>T	XP_011533104.1:p.Thr1198Met
XR_002957339.1:n.7497C>T