Canonical Allele Identifier: CA6892468

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132638117G>C , CM000674.2:g.132638117G>C	GRCh38
NC_000012.11:g.133214703G>C , CM000674.1:g.133214703G>C	GRCh37
NC_000012.10:g.131724776G>C	NCBI36
NG_033840.1:g.54408C>G , LRG_789:g.54408C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.5575C>G MANE Select	NP_006222.2:p.Leu1859Val
ENST00000320574.10:c.5575C>G MANE Select	ENSP00000322570.5:p.Leu1859Val
NM_006231.3:c.5575C>G , LRG_789t1:c.5575C>G	NP_006222.2:p.Leu1859Val
ENST00000320574.9:c.5575C>G	ENSP00000322570.5:p.Leu1859Val
ENST00000416953.3:n.3745C>G
ENST00000434528.3:n.558C>G
ENST00000434528.4:c.1113C>G	ENSP00000500921.1:n.1113C>G
ENST00000434528.5:c.1113C>G	ENSP00000500921.1:n.1113C>G
ENST00000535270.5:c.5494C>G	ENSP00000445753.1:p.Leu1832Val
ENST00000537064.5:c.*5326C>G	ENSP00000442578.1:n.*5326C>G
ENST00000541213.5:n.1053C>G
ENST00000544870.6:c.3248C>G	ENSP00000479927.2:n.3248C>G
ENST00000672002.1:c.3248C>G	ENSP00000500233.1:n.3248C>G
ENST00000672742.1:c.*5781C>G	ENSP00000500279.1:n.*5781C>G
ENST00000699981.1:n.3229C>G
ENST00000699982.1:c.5429C>G
ENST00000699983.1:c.6133C>G
ENST00000699984.1:c.5429C>G
XM_011534795.1:c.5575C>G	XP_011533097.1:p.Leu1859Val
XM_011534795.3:c.5575C>G	XP_011533097.1:p.Leu1859Val
XM_011534796.1:c.5446C>G	XP_011533098.1:p.Leu1816Val
XM_011534797.1:c.4654C>G	XP_011533099.1:p.Leu1552Val
XM_011534797.3:c.4654C>G	XP_011533099.1:p.Leu1552Val
XM_011534798.1:c.4237C>G	XP_011533100.1:p.Leu1413Val
XM_011534802.1:c.2563C>G	XP_011533104.1:p.Leu855Val
XM_011534802.3:c.2563C>G	XP_011533104.1:p.Leu855Val
XR_002957338.1:n.6408C>G
XR_002957339.1:n.6121C>G