Canonical Allele Identifier: CA6893351

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132659444C>T , CM000674.2:g.132659444C>T	GRCh38
NC_000012.11:g.133236030C>T , CM000674.1:g.133236030C>T	GRCh37
NC_000012.10:g.131746103C>T	NCBI36
NG_033840.1:g.33081G>A , LRG_789:g.33081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544870.6:c.747G>A	ENSP00000479927.2:p.Lys249=
ENST00000699982.1:c.2980G>A
ENST00000699983.1:c.2980G>A
ENST00000699984.1:c.2980G>A
ENST00000320574.10:c.3126G>A MANE Select	ENSP00000322570.5:p.Lys1042=
ENST00000672002.1:c.747G>A	ENSP00000500233.1:p.Lys249=
ENST00000672742.1:c.*2628G>A	ENSP00000500279.1:n.*2628G>A
ENST00000320574.9:c.3126G>A	ENSP00000322570.5:p.Lys1042=
ENST00000535270.5:c.3045G>A	ENSP00000445753.1:p.Lys1015=
ENST00000536445.5:n.1470G>A
ENST00000537064.5:c.*2173G>A	ENSP00000442578.1:n.*2173G>A
NM_006231.3:c.3126G>A , LRG_789t1:c.3126G>A	NP_006222.2:p.Lys1042=
XM_011534795.1:c.3126G>A	XP_011533097.1:p.Lys1042=
XM_011534796.1:c.2997G>A	XP_011533098.1:p.Lys999=
XM_011534797.1:c.2205G>A	XP_011533099.1:p.Lys735=
XM_011534798.1:c.1788G>A	XP_011533100.1:p.Lys596=
XM_011534799.1:c.3126G>A	XP_011533101.1:p.Lys1042=
XM_011534800.1:c.3126G>A	XP_011533102.1:p.Lys1042=
XM_011534801.1:c.3126G>A	XP_011533103.1:p.Lys1042=
XM_011534802.1:c.114G>A	XP_011533104.1:p.Lys38=
XR_941395.1:n.3335G>A
XM_011534795.3:c.3126G>A	XP_011533097.1:p.Lys1042=
XM_011534797.3:c.2205G>A	XP_011533099.1:p.Lys735=
XM_011534799.2:c.3126G>A	XP_011533101.1:p.Lys1042=
XM_011534802.3:c.114G>A	XP_011533104.1:p.Lys38=
XR_002957338.1:n.3330G>A
XR_002957339.1:n.3330G>A
XR_941395.2:n.3330G>A
NM_006231.4:c.3126G>A MANE Select	NP_006222.2:p.Lys1042=