Canonical Allele Identifier: CA387376535

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132641848C>G , CM000674.2:g.132641848C>G	GRCh38
NC_000012.11:g.133218434C>G , CM000674.1:g.133218434C>G	GRCh37
NC_000012.10:g.131728507C>G	NCBI36
NG_033840.1:g.50677G>C , LRG_789:g.50677G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.2718G>C
ENST00000434528.5:c.86G>C	ENSP00000500921.1:p.Cys29Ser
ENST00000544870.6:c.2850G>C	ENSP00000479927.2:n.2850G>C
ENST00000699981.1:n.2831G>C
ENST00000699982.1:c.5031G>C
ENST00000699983.1:c.5735G>C
ENST00000699984.1:c.5031G>C
ENST00000320574.10:c.5177G>C MANE Select	ENSP00000322570.5:p.Cys1726Ser
ENST00000434528.4:c.86G>C	ENSP00000500921.1:p.Cys29Ser
ENST00000672002.1:c.2850G>C	ENSP00000500233.1:n.2850G>C
ENST00000672742.1:c.*5383G>C	ENSP00000500279.1:n.*5383G>C
ENST00000320574.9:c.5177G>C	ENSP00000322570.5:p.Cys1726Ser
ENST00000535270.5:c.5096G>C	ENSP00000445753.1:p.Cys1699Ser
ENST00000537064.5:c.*4928G>C	ENSP00000442578.1:n.*4928G>C
ENST00000542362.1:n.34G>C
NM_006231.3:c.5177G>C , LRG_789t1:c.5177G>C	NP_006222.2:p.Cys1726Ser
XM_011534795.1:c.5177G>C	XP_011533097.1:p.Cys1726Ser
XM_011534796.1:c.5048G>C	XP_011533098.1:p.Cys1683Ser
XM_011534797.1:c.4256G>C	XP_011533099.1:p.Cys1419Ser
XM_011534798.1:c.3839G>C	XP_011533100.1:p.Cys1280Ser
XM_011534799.1:c.5177G>C	XP_011533101.1:p.Cys1726Ser
XM_011534800.1:c.5177G>C	XP_011533102.1:p.Cys1726Ser
XM_011534802.1:c.2165G>C	XP_011533104.1:p.Cys722Ser
XM_011534795.3:c.5177G>C	XP_011533097.1:p.Cys1726Ser
XM_011534797.3:c.4256G>C	XP_011533099.1:p.Cys1419Ser
XM_011534799.2:c.5177G>C	XP_011533101.1:p.Cys1726Ser
XM_011534802.3:c.2165G>C	XP_011533104.1:p.Cys722Ser
XR_002957338.1:n.5381G>C
XR_002957339.1:n.5381G>C
XR_941395.2:n.5430G>C
NM_006231.4:c.5177G>C MANE Select	NP_006222.2:p.Cys1726Ser