Canonical Allele Identifier: CA6892084

Gene: POLE

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132625418C>T , CM000674.2:g.132625418C>T	GRCh38
NC_000012.11:g.133202004C>T , CM000674.1:g.133202004C>T	GRCh37
NC_000012.10:g.131712077C>T	NCBI36
NG_033840.1:g.67107G>A , LRG_789:g.67107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.2195+227G>A	ENSP00000500921.1:n.2195+227G>A
ENST00000544870.6:c.4310+227G>A	ENSP00000479927.2:n.4310+227G>A
ENST00000699981.1:n.4311+227G>A
ENST00000699982.1:c.6511+227G>A
ENST00000699983.1:c.7215+227G>A
ENST00000699984.1:c.6443+227G>A
ENST00000320574.10:c.6657+227G>A MANE Select	ENSP00000322570.5:n.6657+227G>A
ENST00000434528.4:c.2195+227G>A	ENSP00000500921.1:n.2195+227G>A
ENST00000672002.1:c.4330+227G>A	ENSP00000500233.1:n.4330+227G>A
ENST00000672742.1:c.*6863+227G>A	ENSP00000500279.1:n.*6863+227G>A
ENST00000320574.9:c.6657+227G>A	ENSP00000322570.5:n.6657+227G>A
ENST00000534922.5:n.797G>A
ENST00000535270.5:c.6576+227G>A	ENSP00000445753.1:n.6576+227G>A
ENST00000537064.5:c.*6408+227G>A	ENSP00000442578.1:n.*6408+227G>A
ENST00000538196.1:n.431G>A
ENST00000541627.2:n.534G>A
ENST00000544692.5:n.2026+227G>A
NM_006231.3:c.6657+227G>A , LRG_789t1:c.6657+227G>A	NP_006222.2:n.6657+227G>A
XM_011534795.1:c.6659G>A	XP_011533097.1:p.Arg2220Gln
XM_011534796.1:c.6530G>A	XP_011533098.1:p.Arg2177Gln
XM_011534797.1:c.5738G>A	XP_011533099.1:p.Arg1913Gln
XM_011534798.1:c.5321G>A	XP_011533100.1:p.Arg1774Gln
XM_011534802.1:c.3647G>A	XP_011533104.1:p.Arg1216Gln
XM_011534795.3:c.6659G>A	XP_011533097.1:p.Arg2220Gln
XM_011534797.3:c.5738G>A	XP_011533099.1:p.Arg1913Gln
XM_011534802.3:c.3647G>A	XP_011533104.1:p.Arg1216Gln
XR_002957339.1:n.7549+227G>A
NM_006231.4:c.6657+227G>A MANE Select	NP_006222.2:n.6657+227G>A