Canonical Allele Identifier: CA6892161

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132626137T>C , CM000674.2:g.132626137T>C	GRCh38
NC_000012.11:g.133202723T>C , CM000674.1:g.133202723T>C	GRCh37
NC_000012.10:g.131712796T>C	NCBI36
NG_033840.1:g.66388A>G , LRG_789:g.66388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.2049A>G	ENSP00000500921.1:n.2049A>G
ENST00000534922.6:n.424A>G
ENST00000544870.6:c.4164A>G	ENSP00000479927.2:n.4164A>G
ENST00000699981.1:n.4165A>G
ENST00000699982.1:c.6365A>G
ENST00000699983.1:c.7069A>G
ENST00000699984.1:c.6297A>G
ENST00000320574.10:c.6511A>G MANE Select	ENSP00000322570.5:p.Lys2171Glu
ENST00000434528.4:c.2049A>G	ENSP00000500921.1:n.2049A>G
ENST00000672002.1:c.4184A>G	ENSP00000500233.1:n.4184A>G
ENST00000672742.1:c.*6717A>G	ENSP00000500279.1:n.*6717A>G
ENST00000320574.9:c.6511A>G	ENSP00000322570.5:p.Lys2171Glu
ENST00000534922.5:n.424A>G
ENST00000535270.5:c.6430A>G	ENSP00000445753.1:p.Lys2144Glu
ENST00000537064.5:c.*6262A>G	ENSP00000442578.1:n.*6262A>G
ENST00000538196.1:n.283A>G
ENST00000544692.5:n.1880A>G
NM_006231.3:c.6511A>G , LRG_789t1:c.6511A>G	NP_006222.2:p.Lys2171Glu
XM_011534795.1:c.6511A>G	XP_011533097.1:p.Lys2171Glu
XM_011534796.1:c.6382A>G	XP_011533098.1:p.Lys2128Glu
XM_011534797.1:c.5590A>G	XP_011533099.1:p.Lys1864Glu
XM_011534798.1:c.5173A>G	XP_011533100.1:p.Lys1725Glu
XM_011534802.1:c.3499A>G	XP_011533104.1:p.Lys1167Glu
XM_011534795.3:c.6511A>G	XP_011533097.1:p.Lys2171Glu
XM_011534797.3:c.5590A>G	XP_011533099.1:p.Lys1864Glu
XM_011534802.3:c.3499A>G	XP_011533104.1:p.Lys1167Glu
XR_002957339.1:n.7057A>G
NM_006231.4:c.6511A>G MANE Select	NP_006222.2:p.Lys2171Glu