Canonical Allele Identifier: CA6893683

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132668439G>C , CM000674.2:g.132668439G>C	GRCh38
NC_000012.11:g.133245025G>C , CM000674.1:g.133245025G>C	GRCh37
NC_000012.10:g.131755098G>C	NCBI36
NG_033840.1:g.24086C>G , LRG_789:g.24086C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699982.1:c.1944C>G
ENST00000699983.1:c.1944C>G
ENST00000699984.1:c.1944C>G
ENST00000320574.10:c.2090C>G MANE Select	ENSP00000322570.5:p.Pro697Arg
ENST00000672742.1:c.*1592C>G	ENSP00000500279.1:n.*1592C>G
ENST00000320574.9:c.2090C>G	ENSP00000322570.5:p.Pro697Arg
ENST00000535270.5:c.2009C>G	ENSP00000445753.1:p.Pro670Arg
ENST00000537064.5:c.*1137C>G	ENSP00000442578.1:n.*1137C>G
NM_006231.3:c.2090C>G , LRG_789t1:c.2090C>G	NP_006222.2:p.Pro697Arg
XM_011534795.1:c.2090C>G	XP_011533097.1:p.Pro697Arg
XM_011534796.1:c.1961C>G	XP_011533098.1:p.Pro654Arg
XM_011534797.1:c.1169C>G	XP_011533099.1:p.Pro390Arg
XM_011534798.1:c.752C>G	XP_011533100.1:p.Pro251Arg
XM_011534799.1:c.2090C>G	XP_011533101.1:p.Pro697Arg
XM_011534800.1:c.2090C>G	XP_011533102.1:p.Pro697Arg
XM_011534801.1:c.2090C>G	XP_011533103.1:p.Pro697Arg
XR_941395.1:n.2299C>G
XM_011534795.3:c.2090C>G	XP_011533097.1:p.Pro697Arg
XM_011534797.3:c.1169C>G	XP_011533099.1:p.Pro390Arg
XM_011534799.2:c.2090C>G	XP_011533101.1:p.Pro697Arg
XR_002957338.1:n.2294C>G
XR_002957339.1:n.2294C>G
XR_941395.2:n.2294C>G
NM_006231.4:c.2090C>G MANE Select	NP_006222.2:p.Pro697Arg