Canonical Allele Identifier: CA6892950

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132643943T>C , CM000674.2:g.132643943T>C	GRCh38
NC_000012.11:g.133220529T>C , CM000674.1:g.133220529T>C	GRCh37
NC_000012.10:g.131730602T>C	NCBI36
NG_033840.1:g.48582A>G , LRG_789:g.48582A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.1807A>G
ENST00000544870.6:c.1857A>G	ENSP00000479927.2:n.1857A>G
ENST00000699981.1:n.1838A>G
ENST00000699982.1:c.4038A>G
ENST00000699983.1:c.4742A>G
ENST00000699984.1:c.4038A>G
ENST00000320574.10:c.4184A>G MANE Select	ENSP00000322570.5:p.Tyr1395Cys
ENST00000672002.1:c.1857A>G	ENSP00000500233.1:n.1857A>G
ENST00000672742.1:c.*4390A>G	ENSP00000500279.1:n.*4390A>G
ENST00000320574.9:c.4184A>G	ENSP00000322570.5:p.Tyr1395Cys
ENST00000535270.5:c.4103A>G	ENSP00000445753.1:p.Tyr1368Cys
ENST00000537064.5:c.*3935A>G	ENSP00000442578.1:n.*3935A>G
NM_006231.3:c.4184A>G , LRG_789t1:c.4184A>G	NP_006222.2:p.Tyr1395Cys
XM_011534795.1:c.4184A>G	XP_011533097.1:p.Tyr1395Cys
XM_011534796.1:c.4055A>G	XP_011533098.1:p.Tyr1352Cys
XM_011534797.1:c.3263A>G	XP_011533099.1:p.Tyr1088Cys
XM_011534798.1:c.2846A>G	XP_011533100.1:p.Tyr949Cys
XM_011534799.1:c.4184A>G	XP_011533101.1:p.Tyr1395Cys
XM_011534800.1:c.4184A>G	XP_011533102.1:p.Tyr1395Cys
XM_011534802.1:c.1172A>G	XP_011533104.1:p.Tyr391Cys
XR_941395.1:n.4442A>G
XM_011534795.3:c.4184A>G	XP_011533097.1:p.Tyr1395Cys
XM_011534797.3:c.3263A>G	XP_011533099.1:p.Tyr1088Cys
XM_011534799.2:c.4184A>G	XP_011533101.1:p.Tyr1395Cys
XM_011534802.3:c.1172A>G	XP_011533104.1:p.Tyr391Cys
XR_002957338.1:n.4388A>G
XR_002957339.1:n.4388A>G
XR_941395.2:n.4437A>G
NM_006231.4:c.4184A>G MANE Select	NP_006222.2:p.Tyr1395Cys