Canonical Allele Identifier: CA387354873

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132668670T>G , CM000674.2:g.132668670T>G	GRCh38
NC_000012.11:g.133245256T>G , CM000674.1:g.133245256T>G	GRCh37
NC_000012.10:g.131755329T>G	NCBI36
NG_033840.1:g.23855A>C , LRG_789:g.23855A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.1991A>C MANE Select	NP_006222.2:p.Gln664Pro
ENST00000320574.10:c.1991A>C MANE Select	ENSP00000322570.5:p.Gln664Pro
NM_006231.3:c.1991A>C , LRG_789t1:c.1991A>C	NP_006222.2:p.Gln664Pro
ENST00000320574.9:c.1991A>C	ENSP00000322570.5:p.Gln664Pro
ENST00000535270.5:c.1910A>C	ENSP00000445753.1:p.Gln637Pro
ENST00000537064.5:c.*1038A>C	ENSP00000442578.1:n.*1038A>C
ENST00000672742.1:c.*1493A>C	ENSP00000500279.1:n.*1493A>C
ENST00000699982.1:c.1845A>C
ENST00000699983.1:c.1845A>C
ENST00000699984.1:c.1845A>C
XM_011534795.1:c.1991A>C	XP_011533097.1:p.Gln664Pro
XM_011534795.3:c.1991A>C	XP_011533097.1:p.Gln664Pro
XM_011534796.1:c.1862A>C	XP_011533098.1:p.Gln621Pro
XM_011534797.1:c.1070A>C	XP_011533099.1:p.Gln357Pro
XM_011534797.3:c.1070A>C	XP_011533099.1:p.Gln357Pro
XM_011534798.1:c.653A>C	XP_011533100.1:p.Gln218Pro
XM_011534799.1:c.1991A>C	XP_011533101.1:p.Gln664Pro
XM_011534799.2:c.1991A>C	XP_011533101.1:p.Gln664Pro
XM_011534800.1:c.1991A>C	XP_011533102.1:p.Gln664Pro
XM_011534801.1:c.1991A>C	XP_011533103.1:p.Gln664Pro
XR_002957338.1:n.2195A>C
XR_002957339.1:n.2195A>C
XR_941395.1:n.2200A>C
XR_941395.2:n.2195A>C