Canonical Allele Identifier: CA2073001655
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132673248A= , CM000674.2:g.132673248A= GRCh38
NC_000012.11:g.133249834A= , CM000674.1:g.133249834A= GRCh37
NC_000012.10:g.131759907A= NCBI36
NG_033840.1:g.19277T= , LRG_789:g.19277T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000539215.6:c.97T=
ENST00000545015.2:n.1416T=
ENST00000699982.1:c.1243T=
ENST00000699983.1:c.1243T=
ENST00000699984.1:c.1243T=
ENST00000320574.10:c.1389T= MANE Select ENSP00000322570.5:p.Ala463=
ENST00000672742.1:c.*891T= ENSP00000500279.1:n.*891T=
ENST00000320574.9:c.1389T= ENSP00000322570.5:p.Ala463=
ENST00000535270.5:c.1308T= ENSP00000445753.1:p.Ala436=
ENST00000535934.2:n.1264T=
ENST00000537064.5:c.*436T= ENSP00000442578.1:n.*436T=
ENST00000539215.5:n.97T=
NM_006231.3:c.1389T= , LRG_789t1:c.1389T= NP_006222.2:p.Ala463=
XM_011534795.1:c.1389T= XP_011533097.1:p.Ala463=
XM_011534796.1:c.1260T= XP_011533098.1:p.Ala420=
XM_011534797.1:c.468T= XP_011533099.1:p.Ala156=
XM_011534798.1:c.51T= XP_011533100.1:p.Ala17=
XM_011534799.1:c.1389T= XP_011533101.1:p.Ala463=
XM_011534800.1:c.1389T= XP_011533102.1:p.Ala463=
XM_011534801.1:c.1389T= XP_011533103.1:p.Ala463=
XR_941395.1:n.1598T=
XM_011534795.3:c.1389T= XP_011533097.1:p.Ala463=
XM_011534797.3:c.468T= XP_011533099.1:p.Ala156=
XM_011534799.2:c.1389T= XP_011533101.1:p.Ala463=
XR_002957338.1:n.1593T=
XR_002957339.1:n.1593T=
XR_941395.2:n.1593T=
NM_006231.4:c.1389T= MANE Select NP_006222.2:p.Ala463=