Canonical Allele Identifier: CA246293025

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672316C>A , CM000674.2:g.132672316C>A	GRCh38
NC_000012.11:g.133248902C>A , CM000674.1:g.133248902C>A	GRCh37
NC_000012.10:g.131758975C>A	NCBI36
NG_033840.1:g.20209G>T , LRG_789:g.20209G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.1693G>T MANE Select	NP_006222.2:p.Ala565Ser
ENST00000320574.10:c.1693G>T MANE Select	ENSP00000322570.5:p.Ala565Ser
NM_006231.3:c.1693G>T , LRG_789t1:c.1693G>T	NP_006222.2:p.Ala565Ser
ENST00000320574.9:c.1693G>T	ENSP00000322570.5:p.Ala565Ser
ENST00000535270.5:c.1612G>T	ENSP00000445753.1:p.Ala538Ser
ENST00000537064.5:c.*740G>T	ENSP00000442578.1:n.*740G>T
ENST00000539215.5:n.448G>T
ENST00000539215.6:c.448G>T
ENST00000672742.1:c.*1195G>T	ENSP00000500279.1:n.*1195G>T
ENST00000699982.1:c.1547G>T
ENST00000699983.1:c.1547G>T
ENST00000699984.1:c.1547G>T
XM_011534795.1:c.1693G>T	XP_011533097.1:p.Ala565Ser
XM_011534795.3:c.1693G>T	XP_011533097.1:p.Ala565Ser
XM_011534796.1:c.1564G>T	XP_011533098.1:p.Ala522Ser
XM_011534797.1:c.772G>T	XP_011533099.1:p.Ala258Ser
XM_011534797.3:c.772G>T	XP_011533099.1:p.Ala258Ser
XM_011534798.1:c.355G>T	XP_011533100.1:p.Ala119Ser
XM_011534799.1:c.1693G>T	XP_011533101.1:p.Ala565Ser
XM_011534799.2:c.1693G>T	XP_011533101.1:p.Ala565Ser
XM_011534800.1:c.1693G>T	XP_011533102.1:p.Ala565Ser
XM_011534801.1:c.1693G>T	XP_011533103.1:p.Ala565Ser
XR_002957338.1:n.1897G>T
XR_002957339.1:n.1897G>T
XR_941395.1:n.1902G>T
XR_941395.2:n.1897G>T