Canonical Allele Identifier: CA2072977279

Gene: POLE

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.6657+227G= MANE Select	NP_006222.2:n.6657+227G=
ENST00000320574.10:c.6657+227G= MANE Select	ENSP00000322570.5:n.6657+227G=
NM_006231.3:c.6657+227G= , LRG_789t1:c.6657+227G=	NP_006222.2:n.6657+227G=
ENST00000320574.9:c.6657+227G=	ENSP00000322570.5:n.6657+227G=
ENST00000434528.4:c.2195+227G=	ENSP00000500921.1:n.2195+227G=
ENST00000434528.5:c.2195+227G=	ENSP00000500921.1:n.2195+227G=
ENST00000534922.5:n.797G=
ENST00000535270.5:c.6576+227G=	ENSP00000445753.1:n.6576+227G=
ENST00000537064.5:c.*6408+227G=	ENSP00000442578.1:n.*6408+227G=
ENST00000538196.1:n.431G=
ENST00000541627.2:n.534G=
ENST00000544692.5:n.2026+227G=
ENST00000544870.6:c.4310+227G=	ENSP00000479927.2:n.4310+227G=
ENST00000672002.1:c.4330+227G=	ENSP00000500233.1:n.4330+227G=
ENST00000672742.1:c.*6863+227G=	ENSP00000500279.1:n.*6863+227G=
ENST00000699981.1:n.4311+227G=
ENST00000699982.1:c.6511+227G=
ENST00000699983.1:c.7215+227G=
ENST00000699984.1:c.6443+227G=
XM_011534795.1:c.6659G=	XP_011533097.1:p.Arg2220=
XM_011534795.3:c.6659G=	XP_011533097.1:p.Arg2220=
XM_011534796.1:c.6530G=	XP_011533098.1:p.Arg2177=
XM_011534797.1:c.5738G=	XP_011533099.1:p.Arg1913=
XM_011534797.3:c.5738G=	XP_011533099.1:p.Arg1913=
XM_011534798.1:c.5321G=	XP_011533100.1:p.Arg1774=
XM_011534802.1:c.3647G=	XP_011533104.1:p.Arg1216=
XM_011534802.3:c.3647G=	XP_011533104.1:p.Arg1216=
XR_002957339.1:n.7549+227G=