Canonical Allele Identifier: CA387370580

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132632719C>G , CM000674.2:g.132632719C>G	GRCh38
NC_000012.11:g.133209305C>G , CM000674.1:g.133209305C>G	GRCh37
NC_000012.10:g.131719378C>G	NCBI36
NG_033840.1:g.59806G>C , LRG_789:g.59806G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.6081G>C MANE Select	NP_006222.2:p.Arg2027Ser
ENST00000320574.10:c.6081G>C MANE Select	ENSP00000322570.5:p.Arg2027Ser
NM_006231.3:c.6081G>C , LRG_789t1:c.6081G>C	NP_006222.2:p.Arg2027Ser
ENST00000320574.9:c.6081G>C	ENSP00000322570.5:p.Arg2027Ser
ENST00000434528.4:c.1619G>C	ENSP00000500921.1:n.1619G>C
ENST00000434528.5:c.1619G>C	ENSP00000500921.1:n.1619G>C
ENST00000441786.3:c.371G>C
ENST00000535270.5:c.6000G>C	ENSP00000445753.1:p.Arg2000Ser
ENST00000537064.5:c.*5832G>C	ENSP00000442578.1:n.*5832G>C
ENST00000541213.5:n.1559G>C
ENST00000544414.1:n.364G>C
ENST00000544692.5:n.1450G>C
ENST00000544870.5:c.379G>C
ENST00000544870.6:c.3754G>C	ENSP00000479927.2:n.3754G>C
ENST00000672002.1:c.3754G>C	ENSP00000500233.1:n.3754G>C
ENST00000672742.1:c.*6287G>C	ENSP00000500279.1:n.*6287G>C
ENST00000699981.1:n.3735G>C
ENST00000699982.1:c.5935G>C
ENST00000699983.1:c.6639G>C
ENST00000699984.1:c.5935G>C
XM_011534795.1:c.6081G>C	XP_011533097.1:p.Arg2027Ser
XM_011534795.3:c.6081G>C	XP_011533097.1:p.Arg2027Ser
XM_011534796.1:c.5952G>C	XP_011533098.1:p.Arg1984Ser
XM_011534797.1:c.5160G>C	XP_011533099.1:p.Arg1720Ser
XM_011534797.3:c.5160G>C	XP_011533099.1:p.Arg1720Ser
XM_011534798.1:c.4743G>C	XP_011533100.1:p.Arg1581Ser
XM_011534802.1:c.3069G>C	XP_011533104.1:p.Arg1023Ser
XM_011534802.3:c.3069G>C	XP_011533104.1:p.Arg1023Ser
XR_002957339.1:n.6627G>C