Canonical Allele Identifier: CA6893133

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132649754C>T , CM000674.2:g.132649754C>T	GRCh38
NC_000012.11:g.133226340C>T , CM000674.1:g.133226340C>T	GRCh37
NC_000012.10:g.131736413C>T	NCBI36
NG_033840.1:g.42771G>A , LRG_789:g.42771G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.1341G>A
ENST00000503265.5:n.316G>A
ENST00000544870.6:c.1391G>A	ENSP00000479927.2:n.1391G>A
ENST00000699981.1:n.1372G>A
ENST00000699982.1:c.3572G>A
ENST00000699983.1:c.4276G>A
ENST00000699984.1:c.3572G>A
ENST00000320574.10:c.3718G>A MANE Select	ENSP00000322570.5:p.Glu1240Lys
ENST00000672002.1:c.1391G>A	ENSP00000500233.1:n.1391G>A
ENST00000672742.1:c.*3924G>A	ENSP00000500279.1:n.*3924G>A
ENST00000320574.9:c.3718G>A	ENSP00000322570.5:p.Glu1240Lys
ENST00000503265.4:n.1261G>A
ENST00000535270.5:c.3637G>A	ENSP00000445753.1:p.Glu1213Lys
ENST00000536445.5:n.2062G>A
ENST00000537064.5:c.*3469G>A	ENSP00000442578.1:n.*3469G>A
NM_006231.3:c.3718G>A , LRG_789t1:c.3718G>A	NP_006222.2:p.Glu1240Lys
XM_011534795.1:c.3718G>A	XP_011533097.1:p.Glu1240Lys
XM_011534796.1:c.3589G>A	XP_011533098.1:p.Glu1197Lys
XM_011534797.1:c.2797G>A	XP_011533099.1:p.Glu933Lys
XM_011534798.1:c.2380G>A	XP_011533100.1:p.Glu794Lys
XM_011534799.1:c.3718G>A	XP_011533101.1:p.Glu1240Lys
XM_011534800.1:c.3718G>A	XP_011533102.1:p.Glu1240Lys
XM_011534801.1:c.3718G>A	XP_011533103.1:p.Glu1240Lys
XM_011534802.1:c.706G>A	XP_011533104.1:p.Glu236Lys
XR_941395.1:n.3927G>A
XM_011534795.3:c.3718G>A	XP_011533097.1:p.Glu1240Lys
XM_011534797.3:c.2797G>A	XP_011533099.1:p.Glu933Lys
XM_011534799.2:c.3718G>A	XP_011533101.1:p.Glu1240Lys
XM_011534802.3:c.706G>A	XP_011533104.1:p.Glu236Lys
XR_002957338.1:n.3922G>A
XR_002957339.1:n.3922G>A
XR_941395.2:n.3922G>A
NM_006231.4:c.3718G>A MANE Select	NP_006222.2:p.Glu1240Lys