Canonical Allele Identifier: CA6892327

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132634175T>C , CM000674.2:g.132634175T>C	GRCh38
NC_000012.11:g.133210761T>C , CM000674.1:g.133210761T>C	GRCh37
NC_000012.10:g.131720834T>C	NCBI36
NG_033840.1:g.58350A>G , LRG_789:g.58350A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.4185A>G
ENST00000434528.5:c.1542+11A>G	ENSP00000500921.1:n.1542+11A>G
ENST00000544870.6:c.3677+11A>G	ENSP00000479927.2:n.3677+11A>G
ENST00000699981.1:n.3658+11A>G
ENST00000699982.1:c.5858+11A>G
ENST00000699983.1:c.6562+11A>G
ENST00000699984.1:c.5858+11A>G
ENST00000320574.10:c.6004+11A>G MANE Select	ENSP00000322570.5:n.6004+11A>G
ENST00000434528.4:c.1542+11A>G	ENSP00000500921.1:n.1542+11A>G
ENST00000672002.1:c.3677+11A>G	ENSP00000500233.1:n.3677+11A>G
ENST00000672742.1:c.*6210+11A>G	ENSP00000500279.1:n.*6210+11A>G
ENST00000320574.9:c.6004+11A>G	ENSP00000322570.5:n.6004+11A>G
ENST00000416953.2:n.338A>G
ENST00000441786.3:c.294+11A>G
ENST00000535270.5:c.5923+11A>G	ENSP00000445753.1:n.5923+11A>G
ENST00000537064.5:c.*5755+11A>G	ENSP00000442578.1:n.*5755+11A>G
ENST00000541213.5:n.1482+11A>G
ENST00000544414.1:n.287+11A>G
ENST00000544870.5:c.302+11A>G
NM_006231.3:c.6004+11A>G , LRG_789t1:c.6004+11A>G	NP_006222.2:n.6004+11A>G
XM_011534795.1:c.6004+11A>G	XP_011533097.1:n.6004+11A>G
XM_011534796.1:c.5875+11A>G	XP_011533098.1:n.5875+11A>G
XM_011534797.1:c.5083+11A>G	XP_011533099.1:n.5083+11A>G
XM_011534798.1:c.4666+11A>G	XP_011533100.1:n.4666+11A>G
XM_011534802.1:c.2992+11A>G	XP_011533104.1:n.2992+11A>G
XM_011534795.3:c.6004+11A>G	XP_011533097.1:n.6004+11A>G
XM_011534797.3:c.5083+11A>G	XP_011533099.1:n.5083+11A>G
XM_011534802.3:c.2992+11A>G	XP_011533104.1:n.2992+11A>G
XR_002957339.1:n.6550+11A>G
NM_006231.4:c.6004+11A>G MANE Select	NP_006222.2:n.6004+11A>G