Canonical Allele Identifier: CA387386402

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132649757G>C , CM000674.2:g.132649757G>C	GRCh38
NC_000012.11:g.133226343G>C , CM000674.1:g.133226343G>C	GRCh37
NC_000012.10:g.131736416G>C	NCBI36
NG_033840.1:g.42768C>G , LRG_789:g.42768C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.3715C>G MANE Select	NP_006222.2:p.Gln1239Glu
ENST00000320574.10:c.3715C>G MANE Select	ENSP00000322570.5:p.Gln1239Glu
NM_006231.3:c.3715C>G , LRG_789t1:c.3715C>G	NP_006222.2:p.Gln1239Glu
ENST00000320574.9:c.3715C>G	ENSP00000322570.5:p.Gln1239Glu
ENST00000416953.3:n.1338C>G
ENST00000503265.4:n.1258C>G
ENST00000503265.5:n.313C>G
ENST00000535270.5:c.3634C>G	ENSP00000445753.1:p.Gln1212Glu
ENST00000536445.5:n.2059C>G
ENST00000537064.5:c.*3466C>G	ENSP00000442578.1:n.*3466C>G
ENST00000544870.6:c.1388C>G	ENSP00000479927.2:n.1388C>G
ENST00000672002.1:c.1388C>G	ENSP00000500233.1:n.1388C>G
ENST00000672742.1:c.*3921C>G	ENSP00000500279.1:n.*3921C>G
ENST00000699981.1:n.1369C>G
ENST00000699982.1:c.3569C>G
ENST00000699983.1:c.4273C>G
ENST00000699984.1:c.3569C>G
XM_011534795.1:c.3715C>G	XP_011533097.1:p.Gln1239Glu
XM_011534795.3:c.3715C>G	XP_011533097.1:p.Gln1239Glu
XM_011534796.1:c.3586C>G	XP_011533098.1:p.Gln1196Glu
XM_011534797.1:c.2794C>G	XP_011533099.1:p.Gln932Glu
XM_011534797.3:c.2794C>G	XP_011533099.1:p.Gln932Glu
XM_011534798.1:c.2377C>G	XP_011533100.1:p.Gln793Glu
XM_011534799.1:c.3715C>G	XP_011533101.1:p.Gln1239Glu
XM_011534799.2:c.3715C>G	XP_011533101.1:p.Gln1239Glu
XM_011534800.1:c.3715C>G	XP_011533102.1:p.Gln1239Glu
XM_011534801.1:c.3715C>G	XP_011533103.1:p.Gln1239Glu
XM_011534802.1:c.703C>G	XP_011533104.1:p.Gln235Glu
XM_011534802.3:c.703C>G	XP_011533104.1:p.Gln235Glu
XR_002957338.1:n.3919C>G
XR_002957339.1:n.3919C>G
XR_941395.1:n.3924C>G
XR_941395.2:n.3919C>G