Canonical Allele Identifier: CA6892571

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132641713G>A , CM000674.2:g.132641713G>A	GRCh38
NC_000012.11:g.133218299G>A , CM000674.1:g.133218299G>A	GRCh37
NC_000012.10:g.131728372G>A	NCBI36
NG_033840.1:g.50812C>T , LRG_789:g.50812C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.5312C>T MANE Select	NP_006222.2:p.Thr1771Met
ENST00000320574.10:c.5312C>T MANE Select	ENSP00000322570.5:p.Thr1771Met
NM_006231.3:c.5312C>T , LRG_789t1:c.5312C>T	NP_006222.2:p.Thr1771Met
ENST00000320574.9:c.5312C>T	ENSP00000322570.5:p.Thr1771Met
ENST00000416953.3:n.2853C>T
ENST00000434528.4:c.221C>T	ENSP00000500921.1:p.Thr74Met
ENST00000434528.5:c.221C>T	ENSP00000500921.1:p.Thr74Met
ENST00000535270.5:c.5231C>T	ENSP00000445753.1:p.Thr1744Met
ENST00000537064.5:c.*5063C>T	ENSP00000442578.1:n.*5063C>T
ENST00000542362.1:n.169C>T
ENST00000544870.6:c.2985C>T	ENSP00000479927.2:n.2985C>T
ENST00000672002.1:c.2985C>T	ENSP00000500233.1:n.2985C>T
ENST00000672742.1:c.*5518C>T	ENSP00000500279.1:n.*5518C>T
ENST00000699981.1:n.2966C>T
ENST00000699982.1:c.5166C>T
ENST00000699983.1:c.5870C>T
ENST00000699984.1:c.5166C>T
XM_011534795.1:c.5312C>T	XP_011533097.1:p.Thr1771Met
XM_011534795.3:c.5312C>T	XP_011533097.1:p.Thr1771Met
XM_011534796.1:c.5183C>T	XP_011533098.1:p.Thr1728Met
XM_011534797.1:c.4391C>T	XP_011533099.1:p.Thr1464Met
XM_011534797.3:c.4391C>T	XP_011533099.1:p.Thr1464Met
XM_011534798.1:c.3974C>T	XP_011533100.1:p.Thr1325Met
XM_011534799.1:c.5312C>T	XP_011533101.1:p.Thr1771Met
XM_011534799.2:c.5312C>T	XP_011533101.1:p.Thr1771Met
XM_011534800.1:c.5312C>T	XP_011533102.1:p.Thr1771Met
XM_011534802.1:c.2300C>T	XP_011533104.1:p.Thr767Met
XM_011534802.3:c.2300C>T	XP_011533104.1:p.Thr767Met
XR_002957338.1:n.5516C>T
XR_002957339.1:n.5516C>T
XR_941395.2:n.5565C>T