Canonical Allele Identifier: CA350258

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132638010G>A , CM000674.2:g.132638010G>A	GRCh38
NC_000012.11:g.133214596G>A , CM000674.1:g.133214596G>A	GRCh37
NC_000012.10:g.131724669G>A	NCBI36
NG_033840.1:g.54515C>T , LRG_789:g.54515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.3848+4C>T
ENST00000434528.5:c.1216+4C>T	ENSP00000500921.1:n.1216+4C>T
ENST00000544870.6:c.3351+4C>T	ENSP00000479927.2:n.3351+4C>T
ENST00000699981.1:n.3332+4C>T
ENST00000699982.1:c.5532+4C>T
ENST00000699983.1:c.6236+4C>T
ENST00000699984.1:c.5532+4C>T
ENST00000320574.10:c.5678+4C>T MANE Select	ENSP00000322570.5:n.5678+4C>T
ENST00000434528.4:c.1216+4C>T	ENSP00000500921.1:n.1216+4C>T
ENST00000672002.1:c.3351+4C>T	ENSP00000500233.1:n.3351+4C>T
ENST00000672742.1:c.*5884+4C>T	ENSP00000500279.1:n.*5884+4C>T
ENST00000320574.9:c.5678+4C>T	ENSP00000322570.5:n.5678+4C>T
ENST00000434528.3:n.661+4C>T
ENST00000535270.5:c.5597+4C>T	ENSP00000445753.1:n.5597+4C>T
ENST00000537064.5:c.*5429+4C>T	ENSP00000442578.1:n.*5429+4C>T
ENST00000541213.5:n.1156+4C>T
NM_006231.3:c.5678+4C>T , LRG_789t1:c.5678+4C>T	NP_006222.2:n.5678+4C>T
XM_011534795.1:c.5678+4C>T	XP_011533097.1:n.5678+4C>T
XM_011534796.1:c.5549+4C>T	XP_011533098.1:n.5549+4C>T
XM_011534797.1:c.4757+4C>T	XP_011533099.1:n.4757+4C>T
XM_011534798.1:c.4340+4C>T	XP_011533100.1:n.4340+4C>T
XM_011534802.1:c.2666+4C>T	XP_011533104.1:n.2666+4C>T
XM_011534795.3:c.5678+4C>T	XP_011533097.1:n.5678+4C>T
XM_011534797.3:c.4757+4C>T	XP_011533099.1:n.4757+4C>T
XM_011534802.3:c.2666+4C>T	XP_011533104.1:n.2666+4C>T
XR_002957338.1:n.6511+4C>T
XR_002957339.1:n.6224+4C>T
NM_006231.4:c.5678+4C>T MANE Select	NP_006222.2:n.5678+4C>T