Canonical Allele Identifier: CA6892156

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132626111C>A , CM000674.2:g.132626111C>A	GRCh38
NC_000012.11:g.133202697C>A , CM000674.1:g.133202697C>A	GRCh37
NC_000012.10:g.131712770C>A	NCBI36
NG_033840.1:g.66414G>T , LRG_789:g.66414G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.6531+6G>T MANE Select	NP_006222.2:n.6531+6G>T
ENST00000320574.10:c.6531+6G>T MANE Select	ENSP00000322570.5:n.6531+6G>T
NM_006231.3:c.6531+6G>T , LRG_789t1:c.6531+6G>T	NP_006222.2:n.6531+6G>T
ENST00000320574.9:c.6531+6G>T	ENSP00000322570.5:n.6531+6G>T
ENST00000434528.4:c.2069+6G>T	ENSP00000500921.1:n.2069+6G>T
ENST00000434528.5:c.2069+6G>T	ENSP00000500921.1:n.2069+6G>T
ENST00000534922.5:n.444+6G>T
ENST00000534922.6:n.444+6G>T
ENST00000535270.5:c.6450+6G>T	ENSP00000445753.1:n.6450+6G>T
ENST00000537064.5:c.*6282+6G>T	ENSP00000442578.1:n.*6282+6G>T
ENST00000538196.1:n.303+6G>T
ENST00000544692.5:n.1900+6G>T
ENST00000544870.6:c.4184+6G>T	ENSP00000479927.2:n.4184+6G>T
ENST00000672002.1:c.4204+6G>T	ENSP00000500233.1:n.4204+6G>T
ENST00000672742.1:c.*6737+6G>T	ENSP00000500279.1:n.*6737+6G>T
ENST00000699981.1:n.4185+6G>T
ENST00000699982.1:c.6385+6G>T
ENST00000699983.1:c.7089+6G>T
ENST00000699984.1:c.6317+6G>T
XM_011534795.1:c.6531+6G>T	XP_011533097.1:n.6531+6G>T
XM_011534795.3:c.6531+6G>T	XP_011533097.1:n.6531+6G>T
XM_011534796.1:c.6402+6G>T	XP_011533098.1:n.6402+6G>T
XM_011534797.1:c.5610+6G>T	XP_011533099.1:n.5610+6G>T
XM_011534797.3:c.5610+6G>T	XP_011533099.1:n.5610+6G>T
XM_011534798.1:c.5193+6G>T	XP_011533100.1:n.5193+6G>T
XM_011534802.1:c.3519+6G>T	XP_011533104.1:n.3519+6G>T
XM_011534802.3:c.3519+6G>T	XP_011533104.1:n.3519+6G>T
XR_002957339.1:n.7083G>T