Canonical Allele Identifier: CA348212

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132664381G>A , CM000674.2:g.132664381G>A	GRCh38
NC_000012.11:g.133240967G>A , CM000674.1:g.133240967G>A	GRCh37
NC_000012.10:g.131751040G>A	NCBI36
NG_033840.1:g.28144C>T , LRG_789:g.28144C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544870.6:c.171C>T	ENSP00000479927.2:p.Ile57=
ENST00000699982.1:c.2404C>T
ENST00000699983.1:c.2404C>T
ENST00000699984.1:c.2404C>T
ENST00000320574.10:c.2550C>T MANE Select	ENSP00000322570.5:p.Ile850=
ENST00000672002.1:c.171C>T	ENSP00000500233.1:p.Ile57=
ENST00000672742.1:c.*2052C>T	ENSP00000500279.1:n.*2052C>T
ENST00000320574.9:c.2550C>T	ENSP00000322570.5:p.Ile850=
ENST00000535270.5:c.2469C>T	ENSP00000445753.1:p.Ile823=
ENST00000537064.5:c.*1597C>T	ENSP00000442578.1:n.*1597C>T
NM_006231.3:c.2550C>T , LRG_789t1:c.2550C>T	NP_006222.2:p.Ile850=
XM_011534795.1:c.2550C>T	XP_011533097.1:p.Ile850=
XM_011534796.1:c.2421C>T	XP_011533098.1:p.Ile807=
XM_011534797.1:c.1629C>T	XP_011533099.1:p.Ile543=
XM_011534798.1:c.1212C>T	XP_011533100.1:p.Ile404=
XM_011534799.1:c.2550C>T	XP_011533101.1:p.Ile850=
XM_011534800.1:c.2550C>T	XP_011533102.1:p.Ile850=
XM_011534801.1:c.2550C>T	XP_011533103.1:p.Ile850=
XR_941395.1:n.2759C>T
XM_011534795.3:c.2550C>T	XP_011533097.1:p.Ile850=
XM_011534797.3:c.1629C>T	XP_011533099.1:p.Ile543=
XM_011534799.2:c.2550C>T	XP_011533101.1:p.Ile850=
XR_002957338.1:n.2754C>T
XR_002957339.1:n.2754C>T
XR_941395.2:n.2754C>T
NM_006231.4:c.2550C>T MANE Select	NP_006222.2:p.Ile850=