Canonical Allele Identifier: CA2072988688

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132642843G= , CM000674.2:g.132642843G=	GRCh38
NC_000012.11:g.133219429G= , CM000674.1:g.133219429G=	GRCh37
NC_000012.10:g.131729502G=	NCBI36
NG_033840.1:g.49682C= , LRG_789:g.49682C=

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.4705C= MANE Select	NP_006222.2:p.Gln1569=
ENST00000320574.10:c.4705C= MANE Select	ENSP00000322570.5:p.Gln1569=
NM_006231.3:c.4705C= , LRG_789t1:c.4705C=	NP_006222.2:p.Gln1569=
ENST00000320574.9:c.4705C=	ENSP00000322570.5:p.Gln1569=
ENST00000416953.3:n.2328C=
ENST00000535270.5:c.4624C=	ENSP00000445753.1:p.Gln1542=
ENST00000537064.5:c.*4456C=	ENSP00000442578.1:n.*4456C=
ENST00000544870.6:c.2378C=	ENSP00000479927.2:n.2378C=
ENST00000672002.1:c.2378C=	ENSP00000500233.1:n.2378C=
ENST00000672742.1:c.*4911C=	ENSP00000500279.1:n.*4911C=
ENST00000699981.1:n.2359C=
ENST00000699982.1:c.4559C=
ENST00000699983.1:c.5263C=
ENST00000699984.1:c.4559C=
XM_011534795.1:c.4705C=	XP_011533097.1:p.Gln1569=
XM_011534795.3:c.4705C=	XP_011533097.1:p.Gln1569=
XM_011534796.1:c.4576C=	XP_011533098.1:p.Gln1526=
XM_011534797.1:c.3784C=	XP_011533099.1:p.Gln1262=
XM_011534797.3:c.3784C=	XP_011533099.1:p.Gln1262=
XM_011534798.1:c.3367C=	XP_011533100.1:p.Gln1123=
XM_011534799.1:c.4705C=	XP_011533101.1:p.Gln1569=
XM_011534799.2:c.4705C=	XP_011533101.1:p.Gln1569=
XM_011534800.1:c.4705C=	XP_011533102.1:p.Gln1569=
XM_011534802.1:c.1693C=	XP_011533104.1:p.Gln565=
XM_011534802.3:c.1693C=	XP_011533104.1:p.Gln565=
XR_002957338.1:n.4909C=
XR_002957339.1:n.4909C=
XR_941395.1:n.4963C=
XR_941395.2:n.4958C=