Canonical Allele Identifier: CA2073001895
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132673670G= , CM000674.2:g.132673670G= GRCh38
NC_000012.11:g.133250256G= , CM000674.1:g.133250256G= GRCh37
NC_000012.10:g.131760329G= NCBI36
NG_033840.1:g.18855C= , LRG_789:g.18855C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545015.2:n.1291C=
ENST00000699982.1:c.1118C=
ENST00000699983.1:c.1118C=
ENST00000699984.1:c.1118C=
ENST00000320574.10:c.1264C= MANE Select ENSP00000322570.5:p.His422=
ENST00000672742.1:c.*766C= ENSP00000500279.1:n.*766C=
ENST00000320574.9:c.1264C= ENSP00000322570.5:p.His422=
ENST00000535270.5:c.1183C= ENSP00000445753.1:p.His395=
ENST00000535934.2:n.1139C=
ENST00000537064.5:c.*311C= ENSP00000442578.1:n.*311C=
NM_006231.3:c.1264C= , LRG_789t1:c.1264C= NP_006222.2:p.His422=
XM_011534795.1:c.1264C= XP_011533097.1:p.His422=
XM_011534796.1:c.1135C= XP_011533098.1:p.His379=
XM_011534797.1:c.343C= XP_011533099.1:p.His115=
XM_011534799.1:c.1264C= XP_011533101.1:p.His422=
XM_011534800.1:c.1264C= XP_011533102.1:p.His422=
XM_011534801.1:c.1264C= XP_011533103.1:p.His422=
XR_941395.1:n.1473C=
XM_011534795.3:c.1264C= XP_011533097.1:p.His422=
XM_011534797.3:c.343C= XP_011533099.1:p.His115=
XM_011534799.2:c.1264C= XP_011533101.1:p.His422=
XR_002957338.1:n.1468C=
XR_002957339.1:n.1468C=
XR_941395.2:n.1468C=
NM_006231.4:c.1264C= MANE Select NP_006222.2:p.His422=