Canonical Allele Identifier: CA482849699

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132675737G>A , CM000674.2:g.132675737G>A	GRCh38
NC_000012.11:g.133252323G>A , CM000674.1:g.133252323G>A	GRCh37
NC_000012.10:g.131762396G>A	NCBI36
NG_033840.1:g.16788C>T , LRG_789:g.16788C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.1104C>T MANE Select	NP_006222.2:p.Asp368=
ENST00000320574.10:c.1104C>T MANE Select	ENSP00000322570.5:p.Asp368=
NM_006231.3:c.1104C>T , LRG_789t1:c.1104C>T	NP_006222.2:p.Asp368=
ENST00000320574.9:c.1104C>T	ENSP00000322570.5:p.Asp368=
ENST00000535270.5:c.1023C>T	ENSP00000445753.1:p.Asp341=
ENST00000535934.2:n.762C>T
ENST00000537064.5:c.*151C>T	ENSP00000442578.1:n.*151C>T
ENST00000545015.2:n.1131C>T
ENST00000672742.1:c.*606C>T	ENSP00000500279.1:n.*606C>T
ENST00000699982.1:c.958C>T
ENST00000699983.1:c.958C>T
ENST00000699984.1:c.958C>T
XM_011534795.1:c.1104C>T	XP_011533097.1:p.Asp368=
XM_011534795.3:c.1104C>T	XP_011533097.1:p.Asp368=
XM_011534796.1:c.975C>T	XP_011533098.1:p.Asp325=
XM_011534797.1:c.183C>T	XP_011533099.1:p.Asp61=
XM_011534797.3:c.183C>T	XP_011533099.1:p.Asp61=
XM_011534799.1:c.1104C>T	XP_011533101.1:p.Asp368=
XM_011534799.2:c.1104C>T	XP_011533101.1:p.Asp368=
XM_011534800.1:c.1104C>T	XP_011533102.1:p.Asp368=
XM_011534801.1:c.1104C>T	XP_011533103.1:p.Asp368=
XR_002957338.1:n.1308C>T
XR_002957339.1:n.1308C>T
XR_941395.1:n.1313C>T
XR_941395.2:n.1308C>T