Canonical Allele Identifier: CA6892290

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132632732G>T , CM000674.2:g.132632732G>T	GRCh38
NC_000012.11:g.133209318G>T , CM000674.1:g.133209318G>T	GRCh37
NC_000012.10:g.131719391G>T	NCBI36
NG_033840.1:g.59793C>A , LRG_789:g.59793C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.6068C>A MANE Select	NP_006222.2:p.Thr2023Asn
ENST00000320574.10:c.6068C>A MANE Select	ENSP00000322570.5:p.Thr2023Asn
NM_006231.3:c.6068C>A , LRG_789t1:c.6068C>A	NP_006222.2:p.Thr2023Asn
ENST00000320574.9:c.6068C>A	ENSP00000322570.5:p.Thr2023Asn
ENST00000434528.4:c.1606C>A	ENSP00000500921.1:n.1606C>A
ENST00000434528.5:c.1606C>A	ENSP00000500921.1:n.1606C>A
ENST00000441786.3:c.358C>A
ENST00000535270.5:c.5987C>A	ENSP00000445753.1:p.Thr1996Asn
ENST00000537064.5:c.*5819C>A	ENSP00000442578.1:n.*5819C>A
ENST00000541213.5:n.1546C>A
ENST00000544414.1:n.351C>A
ENST00000544692.5:n.1437C>A
ENST00000544870.5:c.366C>A
ENST00000544870.6:c.3741C>A	ENSP00000479927.2:n.3741C>A
ENST00000672002.1:c.3741C>A	ENSP00000500233.1:n.3741C>A
ENST00000672742.1:c.*6274C>A	ENSP00000500279.1:n.*6274C>A
ENST00000699981.1:n.3722C>A
ENST00000699982.1:c.5922C>A
ENST00000699983.1:c.6626C>A
ENST00000699984.1:c.5922C>A
XM_011534795.1:c.6068C>A	XP_011533097.1:p.Thr2023Asn
XM_011534795.3:c.6068C>A	XP_011533097.1:p.Thr2023Asn
XM_011534796.1:c.5939C>A	XP_011533098.1:p.Thr1980Asn
XM_011534797.1:c.5147C>A	XP_011533099.1:p.Thr1716Asn
XM_011534797.3:c.5147C>A	XP_011533099.1:p.Thr1716Asn
XM_011534798.1:c.4730C>A	XP_011533100.1:p.Thr1577Asn
XM_011534802.1:c.3056C>A	XP_011533104.1:p.Thr1019Asn
XM_011534802.3:c.3056C>A	XP_011533104.1:p.Thr1019Asn
XR_002957339.1:n.6614C>A