Canonical Allele Identifier: CA2073001642
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132673227G= , CM000674.2:g.132673227G= GRCh38
NC_000012.11:g.133249813G= , CM000674.1:g.133249813G= GRCh37
NC_000012.10:g.131759886G= NCBI36
NG_033840.1:g.19298C= , LRG_789:g.19298C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000539215.6:c.118C=
ENST00000545015.2:n.1437C=
ENST00000699982.1:c.1264C=
ENST00000699983.1:c.1264C=
ENST00000699984.1:c.1264C=
ENST00000320574.10:c.1410C= MANE Select ENSP00000322570.5:p.Tyr470=
ENST00000672742.1:c.*912C= ENSP00000500279.1:n.*912C=
ENST00000320574.9:c.1410C= ENSP00000322570.5:p.Tyr470=
ENST00000535270.5:c.1329C= ENSP00000445753.1:p.Tyr443=
ENST00000535934.2:n.1285C=
ENST00000537064.5:c.*457C= ENSP00000442578.1:n.*457C=
ENST00000539215.5:n.118C=
ENST00000545015.1:n.7C=
NM_006231.3:c.1410C= , LRG_789t1:c.1410C= NP_006222.2:p.Tyr470=
XM_011534795.1:c.1410C= XP_011533097.1:p.Tyr470=
XM_011534796.1:c.1281C= XP_011533098.1:p.Tyr427=
XM_011534797.1:c.489C= XP_011533099.1:p.Tyr163=
XM_011534798.1:c.72C= XP_011533100.1:p.Tyr24=
XM_011534799.1:c.1410C= XP_011533101.1:p.Tyr470=
XM_011534800.1:c.1410C= XP_011533102.1:p.Tyr470=
XM_011534801.1:c.1410C= XP_011533103.1:p.Tyr470=
XR_941395.1:n.1619C=
XM_011534795.3:c.1410C= XP_011533097.1:p.Tyr470=
XM_011534797.3:c.489C= XP_011533099.1:p.Tyr163=
XM_011534799.2:c.1410C= XP_011533101.1:p.Tyr470=
XR_002957338.1:n.1614C=
XR_002957339.1:n.1614C=
XR_941395.2:n.1614C=
NM_006231.4:c.1410C= MANE Select NP_006222.2:p.Tyr470=