Canonical Allele Identifier: CA2622051727

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132641120G>T , CM000674.2:g.132641120G>T	GRCh38
NC_000012.11:g.133217706G>T , CM000674.1:g.133217706G>T	GRCh37
NC_000012.10:g.131727779G>T	NCBI36
NG_033840.1:g.51405C>A , LRG_789:g.51405C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.5378+527C>A MANE Select	NP_006222.2:n.5378+527C>A
ENST00000320574.10:c.5378+527C>A MANE Select	ENSP00000322570.5:n.5378+527C>A
NM_006231.3:c.5378+527C>A , LRG_789t1:c.5378+527C>A	NP_006222.2:n.5378+527C>A
ENST00000320574.9:c.5378+527C>A	ENSP00000322570.5:n.5378+527C>A
ENST00000416953.3:n.3446C>A
ENST00000434528.3:n.259C>A
ENST00000434528.4:c.814C>A	ENSP00000500921.1:n.814C>A
ENST00000434528.5:c.814C>A	ENSP00000500921.1:n.814C>A
ENST00000535270.5:c.5297+527C>A	ENSP00000445753.1:n.5297+527C>A
ENST00000537064.5:c.*5129+527C>A	ENSP00000442578.1:n.*5129+527C>A
ENST00000544870.6:c.3051+527C>A	ENSP00000479927.2:n.3051+527C>A
ENST00000672002.1:c.3051+527C>A	ENSP00000500233.1:n.3051+527C>A
ENST00000672742.1:c.*5584+527C>A	ENSP00000500279.1:n.*5584+527C>A
ENST00000699981.1:n.3032+527C>A
ENST00000699982.1:c.5232+527C>A
ENST00000699983.1:c.5936+527C>A
ENST00000699984.1:c.5232+527C>A
XM_011534795.1:c.5378+527C>A	XP_011533097.1:n.5378+527C>A
XM_011534795.3:c.5378+527C>A	XP_011533097.1:n.5378+527C>A
XM_011534796.1:c.5249+527C>A	XP_011533098.1:n.5249+527C>A
XM_011534797.1:c.4457+527C>A	XP_011533099.1:n.4457+527C>A
XM_011534797.3:c.4457+527C>A	XP_011533099.1:n.4457+527C>A
XM_011534798.1:c.4040+527C>A	XP_011533100.1:n.4040+527C>A
XM_011534799.1:c.*206C>A	XP_011533101.1:n.*206C>A
XM_011534799.2:c.*206C>A	XP_011533101.1:n.*206C>A
XM_011534800.1:c.*206C>A	XP_011533102.1:n.*206C>A
XM_011534802.1:c.2366+527C>A	XP_011533104.1:n.2366+527C>A
XM_011534802.3:c.2366+527C>A	XP_011533104.1:n.2366+527C>A
XR_002957338.1:n.6109C>A
XR_002957339.1:n.5822C>A
XR_941395.2:n.5631+527C>A