Canonical Allele Identifier: CA348155

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132668446A>T , CM000674.2:g.132668446A>T	GRCh38
NC_000012.11:g.133245032A>T , CM000674.1:g.133245032A>T	GRCh37
NC_000012.10:g.131755105A>T	NCBI36
NG_033840.1:g.24079T>A , LRG_789:g.24079T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699982.1:c.1937T>A
ENST00000699983.1:c.1937T>A
ENST00000699984.1:c.1937T>A
ENST00000320574.10:c.2083T>A MANE Select	ENSP00000322570.5:p.Phe695Ile
ENST00000672742.1:c.*1585T>A	ENSP00000500279.1:n.*1585T>A
ENST00000320574.9:c.2083T>A	ENSP00000322570.5:p.Phe695Ile
ENST00000535270.5:c.2002T>A	ENSP00000445753.1:p.Phe668Ile
ENST00000537064.5:c.*1130T>A	ENSP00000442578.1:n.*1130T>A
NM_006231.3:c.2083T>A , LRG_789t1:c.2083T>A	NP_006222.2:p.Phe695Ile
XM_011534795.1:c.2083T>A	XP_011533097.1:p.Phe695Ile
XM_011534796.1:c.1954T>A	XP_011533098.1:p.Phe652Ile
XM_011534797.1:c.1162T>A	XP_011533099.1:p.Phe388Ile
XM_011534798.1:c.745T>A	XP_011533100.1:p.Phe249Ile
XM_011534799.1:c.2083T>A	XP_011533101.1:p.Phe695Ile
XM_011534800.1:c.2083T>A	XP_011533102.1:p.Phe695Ile
XM_011534801.1:c.2083T>A	XP_011533103.1:p.Phe695Ile
XR_941395.1:n.2292T>A
XM_011534795.3:c.2083T>A	XP_011533097.1:p.Phe695Ile
XM_011534797.3:c.1162T>A	XP_011533099.1:p.Phe388Ile
XM_011534799.2:c.2083T>A	XP_011533101.1:p.Phe695Ile
XR_002957338.1:n.2287T>A
XR_002957339.1:n.2287T>A
XR_941395.2:n.2287T>A
NM_006231.4:c.2083T>A MANE Select	NP_006222.2:p.Phe695Ile