Canonical Allele Identifier: CA387356579

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672662C>T , CM000674.2:g.132672662C>T	GRCh38
NC_000012.11:g.133249248C>T , CM000674.1:g.133249248C>T	GRCh37
NC_000012.10:g.131759321C>T	NCBI36
NG_033840.1:g.19863G>A , LRG_789:g.19863G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.1651G>A MANE Select	NP_006222.2:p.Val551Ile
ENST00000320574.10:c.1651G>A MANE Select	ENSP00000322570.5:p.Val551Ile
NM_006231.3:c.1651G>A , LRG_789t1:c.1651G>A	NP_006222.2:p.Val551Ile
ENST00000320574.9:c.1651G>A	ENSP00000322570.5:p.Val551Ile
ENST00000535270.5:c.1570G>A	ENSP00000445753.1:p.Val524Ile
ENST00000535934.2:n.1526G>A
ENST00000537064.5:c.*698G>A	ENSP00000442578.1:n.*698G>A
ENST00000539215.5:n.359G>A
ENST00000539215.6:c.359G>A
ENST00000545015.1:n.248G>A
ENST00000545015.2:n.1678G>A
ENST00000672742.1:c.*1153G>A	ENSP00000500279.1:n.*1153G>A
ENST00000699982.1:c.1505G>A
ENST00000699983.1:c.1505G>A
ENST00000699984.1:c.1505G>A
XM_011534795.1:c.1651G>A	XP_011533097.1:p.Val551Ile
XM_011534795.3:c.1651G>A	XP_011533097.1:p.Val551Ile
XM_011534796.1:c.1522G>A	XP_011533098.1:p.Val508Ile
XM_011534797.1:c.730G>A	XP_011533099.1:p.Val244Ile
XM_011534797.3:c.730G>A	XP_011533099.1:p.Val244Ile
XM_011534798.1:c.313G>A	XP_011533100.1:p.Val105Ile
XM_011534799.1:c.1651G>A	XP_011533101.1:p.Val551Ile
XM_011534799.2:c.1651G>A	XP_011533101.1:p.Val551Ile
XM_011534800.1:c.1651G>A	XP_011533102.1:p.Val551Ile
XM_011534801.1:c.1651G>A	XP_011533103.1:p.Val551Ile
XR_002957338.1:n.1855G>A
XR_002957339.1:n.1855G>A
XR_941395.1:n.1860G>A
XR_941395.2:n.1855G>A