Canonical Allele Identifier: CA349509

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132624938G>A , CM000674.2:g.132624938G>A	GRCh38
NC_000012.11:g.133201524G>A , CM000674.1:g.133201524G>A	GRCh37
NC_000012.10:g.131711597G>A	NCBI36
NG_033840.1:g.67587C>T , LRG_789:g.67587C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.2252C>T	ENSP00000500921.1:n.2252C>T
ENST00000544870.6:c.4367C>T	ENSP00000479927.2:n.4367C>T
ENST00000699981.1:n.4368C>T
ENST00000699982.1:c.6568C>T
ENST00000699983.1:c.7272C>T
ENST00000699984.1:c.6500C>T
ENST00000320574.10:c.6714C>T MANE Select	ENSP00000322570.5:p.Cys2238=
ENST00000434528.4:c.2252C>T	ENSP00000500921.1:n.2252C>T
ENST00000672002.1:c.4387C>T	ENSP00000500233.1:n.4387C>T
ENST00000672742.1:c.*6920C>T	ENSP00000500279.1:n.*6920C>T
ENST00000320574.9:c.6714C>T	ENSP00000322570.5:p.Cys2238=
ENST00000534922.5:n.1277C>T
ENST00000535270.5:c.6633C>T	ENSP00000445753.1:p.Cys2211=
ENST00000537064.5:c.*6465C>T	ENSP00000442578.1:n.*6465C>T
ENST00000541627.2:n.1014C>T
ENST00000544692.5:n.2083C>T
NM_006231.3:c.6714C>T , LRG_789t1:c.6714C>T	NP_006222.2:p.Cys2238=
XR_002957339.1:n.7606C>T
NM_006231.4:c.6714C>T MANE Select	NP_006222.2:p.Cys2238=