Canonical Allele Identifier: CA6892118

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132625671G>A , CM000674.2:g.132625671G>A	GRCh38
NC_000012.11:g.133202257G>A , CM000674.1:g.133202257G>A	GRCh37
NC_000012.10:g.131712330G>A	NCBI36
NG_033840.1:g.66854C>T , LRG_789:g.66854C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.6631C>T MANE Select	NP_006222.2:p.Leu2211=
ENST00000320574.10:c.6631C>T MANE Select	ENSP00000322570.5:p.Leu2211=
NM_006231.3:c.6631C>T , LRG_789t1:c.6631C>T	NP_006222.2:p.Leu2211=
ENST00000320574.9:c.6631C>T	ENSP00000322570.5:p.Leu2211=
ENST00000434528.4:c.2169C>T	ENSP00000500921.1:n.2169C>T
ENST00000434528.5:c.2169C>T	ENSP00000500921.1:n.2169C>T
ENST00000534922.5:n.544C>T
ENST00000534922.6:n.544C>T
ENST00000535270.5:c.6550C>T	ENSP00000445753.1:p.Leu2184=
ENST00000537064.5:c.*6382C>T	ENSP00000442578.1:n.*6382C>T
ENST00000538196.1:n.403C>T
ENST00000541627.2:n.281C>T
ENST00000544692.5:n.2000C>T
ENST00000544870.6:c.4284C>T	ENSP00000479927.2:n.4284C>T
ENST00000672002.1:c.4304C>T	ENSP00000500233.1:n.4304C>T
ENST00000672742.1:c.*6837C>T	ENSP00000500279.1:n.*6837C>T
ENST00000699981.1:n.4285C>T
ENST00000699982.1:c.6485C>T
ENST00000699983.1:c.7189C>T
ENST00000699984.1:c.6417C>T
XM_011534795.1:c.6631C>T	XP_011533097.1:p.Leu2211=
XM_011534795.3:c.6631C>T	XP_011533097.1:p.Leu2211=
XM_011534796.1:c.6502C>T	XP_011533098.1:p.Leu2168=
XM_011534797.1:c.5710C>T	XP_011533099.1:p.Leu1904=
XM_011534797.3:c.5710C>T	XP_011533099.1:p.Leu1904=
XM_011534798.1:c.5293C>T	XP_011533100.1:p.Leu1765=
XM_011534802.1:c.3619C>T	XP_011533104.1:p.Leu1207=
XM_011534802.3:c.3619C>T	XP_011533104.1:p.Leu1207=
XR_002957339.1:n.7523C>T