Canonical Allele Identifier: CA6892219

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132632300C>T , CM000674.2:g.132632300C>T	GRCh38
NC_000012.11:g.133208886C>T , CM000674.1:g.133208886C>T	GRCh37
NC_000012.10:g.131718959C>T	NCBI36
NG_033840.1:g.60225G>A , LRG_789:g.60225G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.1868+15G>A	ENSP00000500921.1:n.1868+15G>A
ENST00000534922.6:n.243+15G>A
ENST00000544870.6:c.3983+15G>A	ENSP00000479927.2:n.3983+15G>A
ENST00000699981.1:n.3984+15G>A
ENST00000699982.1:c.6184+15G>A
ENST00000699983.1:c.6888+15G>A
ENST00000699984.1:c.6116+15G>A
ENST00000320574.10:c.6330+15G>A MANE Select	ENSP00000322570.5:n.6330+15G>A
ENST00000434528.4:c.1868+15G>A	ENSP00000500921.1:n.1868+15G>A
ENST00000672002.1:c.4003+15G>A	ENSP00000500233.1:n.4003+15G>A
ENST00000672742.1:c.*6536+15G>A	ENSP00000500279.1:n.*6536+15G>A
ENST00000320574.9:c.6330+15G>A	ENSP00000322570.5:n.6330+15G>A
ENST00000441786.3:c.549+15G>A
ENST00000534922.5:n.243+15G>A
ENST00000535270.5:c.6249+15G>A	ENSP00000445753.1:n.6249+15G>A
ENST00000537064.5:c.*6081+15G>A	ENSP00000442578.1:n.*6081+15G>A
ENST00000538196.1:n.102+15G>A
ENST00000544692.5:n.1699+15G>A
ENST00000544870.5:c.608+15G>A
NM_006231.3:c.6330+15G>A , LRG_789t1:c.6330+15G>A	NP_006222.2:n.6330+15G>A
XM_011534795.1:c.6330+15G>A	XP_011533097.1:n.6330+15G>A
XM_011534796.1:c.6201+15G>A	XP_011533098.1:n.6201+15G>A
XM_011534797.1:c.5409+15G>A	XP_011533099.1:n.5409+15G>A
XM_011534798.1:c.4992+15G>A	XP_011533100.1:n.4992+15G>A
XM_011534802.1:c.3318+15G>A	XP_011533104.1:n.3318+15G>A
XM_011534795.3:c.6330+15G>A	XP_011533097.1:n.6330+15G>A
XM_011534797.3:c.5409+15G>A	XP_011533099.1:n.5409+15G>A
XM_011534802.3:c.3318+15G>A	XP_011533104.1:n.3318+15G>A
XR_002957339.1:n.6876+15G>A
NM_006231.4:c.6330+15G>A MANE Select	NP_006222.2:n.6330+15G>A