Canonical Allele Identifier: CA387367478

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132626194C>A , CM000674.2:g.132626194C>A	GRCh38
NC_000012.11:g.133202780C>A , CM000674.1:g.133202780C>A	GRCh37
NC_000012.10:g.131712853C>A	NCBI36
NG_033840.1:g.66331G>T , LRG_789:g.66331G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.1992G>T	ENSP00000500921.1:n.1992G>T
ENST00000534922.6:n.367G>T
ENST00000544870.6:c.4107G>T	ENSP00000479927.2:n.4107G>T
ENST00000699981.1:n.4108G>T
ENST00000699982.1:c.6308G>T
ENST00000699983.1:c.7012G>T
ENST00000699984.1:c.6240G>T
ENST00000320574.10:c.6454G>T MANE Select	ENSP00000322570.5:p.Val2152Leu
ENST00000434528.4:c.1992G>T	ENSP00000500921.1:n.1992G>T
ENST00000672002.1:c.4127G>T	ENSP00000500233.1:n.4127G>T
ENST00000672742.1:c.*6660G>T	ENSP00000500279.1:n.*6660G>T
ENST00000320574.9:c.6454G>T	ENSP00000322570.5:p.Val2152Leu
ENST00000534922.5:n.367G>T
ENST00000535270.5:c.6373G>T	ENSP00000445753.1:p.Val2125Leu
ENST00000537064.5:c.*6205G>T	ENSP00000442578.1:n.*6205G>T
ENST00000538196.1:n.226G>T
ENST00000544692.5:n.1823G>T
NM_006231.3:c.6454G>T , LRG_789t1:c.6454G>T	NP_006222.2:p.Val2152Leu
XM_011534795.1:c.6454G>T	XP_011533097.1:p.Val2152Leu
XM_011534796.1:c.6325G>T	XP_011533098.1:p.Val2109Leu
XM_011534797.1:c.5533G>T	XP_011533099.1:p.Val1845Leu
XM_011534798.1:c.5116G>T	XP_011533100.1:p.Val1706Leu
XM_011534802.1:c.3442G>T	XP_011533104.1:p.Val1148Leu
XM_011534795.3:c.6454G>T	XP_011533097.1:p.Val2152Leu
XM_011534797.3:c.5533G>T	XP_011533099.1:p.Val1845Leu
XM_011534802.3:c.3442G>T	XP_011533104.1:p.Val1148Leu
XR_002957339.1:n.7000G>T
NM_006231.4:c.6454G>T MANE Select	NP_006222.2:p.Val2152Leu