Canonical Allele Identifier: CA387396707

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132664464T>C , CM000674.2:g.132664464T>C	GRCh38
NC_000012.11:g.133241050T>C , CM000674.1:g.133241050T>C	GRCh37
NC_000012.10:g.131751123T>C	NCBI36
NG_033840.1:g.28061A>G , LRG_789:g.28061A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.2469-2A>G MANE Select	NP_006222.2:n.2469-2A>G
ENST00000320574.10:c.2469-2A>G MANE Select	ENSP00000322570.5:n.2469-2A>G
NM_006231.3:c.2469-2A>G , LRG_789t1:c.2469-2A>G	NP_006222.2:n.2469-2A>G
ENST00000320574.9:c.2469-2A>G	ENSP00000322570.5:n.2469-2A>G
ENST00000535270.5:c.2388-2A>G	ENSP00000445753.1:n.2388-2A>G
ENST00000537064.5:c.*1516-2A>G	ENSP00000442578.1:n.*1516-2A>G
ENST00000544870.6:c.90-2A>G	ENSP00000479927.2:n.90-2A>G
ENST00000672002.1:c.90-2A>G	ENSP00000500233.1:n.90-2A>G
ENST00000672742.1:c.*1971-2A>G	ENSP00000500279.1:n.*1971-2A>G
ENST00000699982.1:c.2323-2A>G
ENST00000699983.1:c.2323-2A>G
ENST00000699984.1:c.2323-2A>G
XM_011534795.1:c.2469-2A>G	XP_011533097.1:n.2469-2A>G
XM_011534795.3:c.2469-2A>G	XP_011533097.1:n.2469-2A>G
XM_011534796.1:c.2340-2A>G	XP_011533098.1:n.2340-2A>G
XM_011534797.1:c.1548-2A>G	XP_011533099.1:n.1548-2A>G
XM_011534797.3:c.1548-2A>G	XP_011533099.1:n.1548-2A>G
XM_011534798.1:c.1131-2A>G	XP_011533100.1:n.1131-2A>G
XM_011534799.1:c.2469-2A>G	XP_011533101.1:n.2469-2A>G
XM_011534799.2:c.2469-2A>G	XP_011533101.1:n.2469-2A>G
XM_011534800.1:c.2469-2A>G	XP_011533102.1:n.2469-2A>G
XM_011534801.1:c.2469-2A>G	XP_011533103.1:n.2469-2A>G
XR_002957338.1:n.2673-2A>G
XR_002957339.1:n.2673-2A>G
XR_941395.1:n.2678-2A>G
XR_941395.2:n.2673-2A>G