Canonical Allele Identifier: CA6892111

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132625636A>G , CM000674.2:g.132625636A>G	GRCh38
NC_000012.11:g.133202222A>G , CM000674.1:g.133202222A>G	GRCh37
NC_000012.10:g.131712295A>G	NCBI36
NG_033840.1:g.66889T>C , LRG_789:g.66889T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.6657+9T>C MANE Select	NP_006222.2:n.6657+9T>C
ENST00000320574.10:c.6657+9T>C MANE Select	ENSP00000322570.5:n.6657+9T>C
NM_006231.3:c.6657+9T>C , LRG_789t1:c.6657+9T>C	NP_006222.2:n.6657+9T>C
ENST00000320574.9:c.6657+9T>C	ENSP00000322570.5:n.6657+9T>C
ENST00000434528.4:c.2195+9T>C	ENSP00000500921.1:n.2195+9T>C
ENST00000434528.5:c.2195+9T>C	ENSP00000500921.1:n.2195+9T>C
ENST00000534922.5:n.579T>C
ENST00000535270.5:c.6576+9T>C	ENSP00000445753.1:n.6576+9T>C
ENST00000537064.5:c.*6408+9T>C	ENSP00000442578.1:n.*6408+9T>C
ENST00000538196.1:n.429+9T>C
ENST00000541627.2:n.316T>C
ENST00000544692.5:n.2026+9T>C
ENST00000544870.6:c.4310+9T>C	ENSP00000479927.2:n.4310+9T>C
ENST00000672002.1:c.4330+9T>C	ENSP00000500233.1:n.4330+9T>C
ENST00000672742.1:c.*6863+9T>C	ENSP00000500279.1:n.*6863+9T>C
ENST00000699981.1:n.4311+9T>C
ENST00000699982.1:c.6511+9T>C
ENST00000699983.1:c.7215+9T>C
ENST00000699984.1:c.6443+9T>C
XM_011534795.1:c.6657+9T>C	XP_011533097.1:n.6657+9T>C
XM_011534795.3:c.6657+9T>C	XP_011533097.1:n.6657+9T>C
XM_011534796.1:c.6528+9T>C	XP_011533098.1:n.6528+9T>C
XM_011534797.1:c.5736+9T>C	XP_011533099.1:n.5736+9T>C
XM_011534797.3:c.5736+9T>C	XP_011533099.1:n.5736+9T>C
XM_011534798.1:c.5319+9T>C	XP_011533100.1:n.5319+9T>C
XM_011534802.1:c.3645+9T>C	XP_011533104.1:n.3645+9T>C
XM_011534802.3:c.3645+9T>C	XP_011533104.1:n.3645+9T>C
XR_002957339.1:n.7549+9T>C