Canonical Allele Identifier: CA6893908

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672730G>A , CM000674.2:g.132672730G>A	GRCh38
NC_000012.11:g.133249316G>A , CM000674.1:g.133249316G>A	GRCh37
NC_000012.10:g.131759389G>A	NCBI36
NG_033840.1:g.19795C>T , LRG_789:g.19795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.291C>T
ENST00000545015.2:n.1610C>T
ENST00000699982.1:c.1437C>T
ENST00000699983.1:c.1437C>T
ENST00000699984.1:c.1437C>T
ENST00000320574.10:c.1583C>T MANE Select	ENSP00000322570.5:p.Thr528Met
ENST00000672742.1:c.*1085C>T	ENSP00000500279.1:n.*1085C>T
ENST00000320574.9:c.1583C>T	ENSP00000322570.5:p.Thr528Met
ENST00000535270.5:c.1502C>T	ENSP00000445753.1:p.Thr501Met
ENST00000535934.2:n.1458C>T
ENST00000537064.5:c.*630C>T	ENSP00000442578.1:n.*630C>T
ENST00000539215.5:n.291C>T
ENST00000545015.1:n.180C>T
NM_006231.3:c.1583C>T , LRG_789t1:c.1583C>T	NP_006222.2:p.Thr528Met
XM_011534795.1:c.1583C>T	XP_011533097.1:p.Thr528Met
XM_011534796.1:c.1454C>T	XP_011533098.1:p.Thr485Met
XM_011534797.1:c.662C>T	XP_011533099.1:p.Thr221Met
XM_011534798.1:c.245C>T	XP_011533100.1:p.Thr82Met
XM_011534799.1:c.1583C>T	XP_011533101.1:p.Thr528Met
XM_011534800.1:c.1583C>T	XP_011533102.1:p.Thr528Met
XM_011534801.1:c.1583C>T	XP_011533103.1:p.Thr528Met
XR_941395.1:n.1792C>T
XM_011534795.3:c.1583C>T	XP_011533097.1:p.Thr528Met
XM_011534797.3:c.662C>T	XP_011533099.1:p.Thr221Met
XM_011534799.2:c.1583C>T	XP_011533101.1:p.Thr528Met
XR_002957338.1:n.1787C>T
XR_002957339.1:n.1787C>T
XR_941395.2:n.1787C>T
NM_006231.4:c.1583C>T MANE Select	NP_006222.2:p.Thr528Met