Canonical Allele Identifier: CA2073001106
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132672299C= , CM000674.2:g.132672299C= GRCh38
NC_000012.11:g.133248885C= , CM000674.1:g.133248885C= GRCh37
NC_000012.10:g.131758958C= NCBI36
NG_033840.1:g.20226G= , LRG_789:g.20226G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000539215.6:c.465G=
ENST00000699982.1:c.1564G=
ENST00000699983.1:c.1564G=
ENST00000699984.1:c.1564G=
ENST00000320574.10:c.1710G= MANE Select ENSP00000322570.5:p.Leu570=
ENST00000672742.1:c.*1212G= ENSP00000500279.1:n.*1212G=
ENST00000320574.9:c.1710G= ENSP00000322570.5:p.Leu570=
ENST00000535270.5:c.1629G= ENSP00000445753.1:p.Leu543=
ENST00000537064.5:c.*757G= ENSP00000442578.1:n.*757G=
ENST00000539215.5:n.465G=
NM_006231.3:c.1710G= , LRG_789t1:c.1710G= NP_006222.2:p.Leu570=
XM_011534795.1:c.1710G= XP_011533097.1:p.Leu570=
XM_011534796.1:c.1581G= XP_011533098.1:p.Leu527=
XM_011534797.1:c.789G= XP_011533099.1:p.Leu263=
XM_011534798.1:c.372G= XP_011533100.1:p.Leu124=
XM_011534799.1:c.1710G= XP_011533101.1:p.Leu570=
XM_011534800.1:c.1710G= XP_011533102.1:p.Leu570=
XM_011534801.1:c.1710G= XP_011533103.1:p.Leu570=
XR_941395.1:n.1919G=
XM_011534795.3:c.1710G= XP_011533097.1:p.Leu570=
XM_011534797.3:c.789G= XP_011533099.1:p.Leu263=
XM_011534799.2:c.1710G= XP_011533101.1:p.Leu570=
XR_002957338.1:n.1914G=
XR_002957339.1:n.1914G=
XR_941395.2:n.1914G=
NM_006231.4:c.1710G= MANE Select NP_006222.2:p.Leu570=