Canonical Allele Identifier: CA349622

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132635899C>T , CM000674.2:g.132635899C>T	GRCh38
NC_000012.11:g.133212485C>T , CM000674.1:g.133212485C>T	GRCh37
NC_000012.10:g.131722558C>T	NCBI36
NG_033840.1:g.56626G>A , LRG_789:g.56626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.3974G>A
ENST00000434528.5:c.1342G>A	ENSP00000500921.1:n.1342G>A
ENST00000544870.6:c.3477G>A	ENSP00000479927.2:n.3477G>A
ENST00000699981.1:n.3458G>A
ENST00000699982.1:c.5658G>A
ENST00000699983.1:c.6362G>A
ENST00000699984.1:c.5658G>A
ENST00000320574.10:c.5804G>A MANE Select	ENSP00000322570.5:p.Cys1935Tyr
ENST00000434528.4:c.1342G>A	ENSP00000500921.1:n.1342G>A
ENST00000672002.1:c.3477G>A	ENSP00000500233.1:n.3477G>A
ENST00000672742.1:c.*6010G>A	ENSP00000500279.1:n.*6010G>A
ENST00000320574.9:c.5804G>A	ENSP00000322570.5:p.Cys1935Tyr
ENST00000416953.2:n.127G>A
ENST00000434528.3:n.787G>A
ENST00000441786.3:c.94G>A
ENST00000535270.5:c.5723G>A	ENSP00000445753.1:p.Cys1908Tyr
ENST00000537064.5:c.*5555G>A	ENSP00000442578.1:n.*5555G>A
ENST00000541213.5:n.1282G>A
ENST00000544414.1:n.87G>A
ENST00000544870.5:c.102G>A
NM_006231.3:c.5804G>A , LRG_789t1:c.5804G>A	NP_006222.2:p.Cys1935Tyr
XM_011534795.1:c.5804G>A	XP_011533097.1:p.Cys1935Tyr
XM_011534796.1:c.5675G>A	XP_011533098.1:p.Cys1892Tyr
XM_011534797.1:c.4883G>A	XP_011533099.1:p.Cys1628Tyr
XM_011534798.1:c.4466G>A	XP_011533100.1:p.Cys1489Tyr
XM_011534802.1:c.2792G>A	XP_011533104.1:p.Cys931Tyr
XM_011534795.3:c.5804G>A	XP_011533097.1:p.Cys1935Tyr
XM_011534797.3:c.4883G>A	XP_011533099.1:p.Cys1628Tyr
XM_011534802.3:c.2792G>A	XP_011533104.1:p.Cys931Tyr
XR_002957339.1:n.6350G>A
NM_006231.4:c.5804G>A MANE Select	NP_006222.2:p.Cys1935Tyr