Canonical Allele Identifier: CA246298823

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676187G>A , CM000674.2:g.132676187G>A	GRCh38
NC_000012.11:g.133252773G>A , CM000674.1:g.133252773G>A	GRCh37
NC_000012.10:g.131762846G>A	NCBI36
NG_033840.1:g.16338C>T , LRG_789:g.16338C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.927C>T MANE Select	NP_006222.2:p.Asn309=
ENST00000320574.10:c.927C>T MANE Select	ENSP00000322570.5:p.Asn309=
NM_006231.3:c.927C>T , LRG_789t1:c.927C>T	NP_006222.2:p.Asn309=
ENST00000320574.9:c.927C>T	ENSP00000322570.5:p.Asn309=
ENST00000535270.5:c.846C>T	ENSP00000445753.1:p.Asn282=
ENST00000535934.2:n.312C>T
ENST00000537064.5:c.910-3C>T	ENSP00000442578.1:n.910-3C>T
ENST00000545015.2:n.954C>T
ENST00000672742.1:c.*421C>T	ENSP00000500279.1:n.*421C>T
ENST00000699982.1:c.773C>T
ENST00000699983.1:c.773C>T
ENST00000699984.1:c.773C>T
XM_011534795.1:c.927C>T	XP_011533097.1:p.Asn309=
XM_011534795.3:c.927C>T	XP_011533097.1:p.Asn309=
XM_011534796.1:c.798C>T	XP_011533098.1:p.Asn266=
XM_011534797.1:c.9-3C>T	XP_011533099.1:n.9-3C>T
XM_011534797.3:c.9-3C>T	XP_011533099.1:n.9-3C>T
XM_011534799.1:c.927C>T	XP_011533101.1:p.Asn309=
XM_011534799.2:c.927C>T	XP_011533101.1:p.Asn309=
XM_011534800.1:c.927C>T	XP_011533102.1:p.Asn309=
XM_011534801.1:c.927C>T	XP_011533103.1:p.Asn309=
XR_002957338.1:n.1131C>T
XR_002957339.1:n.1131C>T
XR_941395.1:n.1136C>T
XR_941395.2:n.1131C>T