Canonical Allele Identifier: CA2073001103
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132672294T= , CM000674.2:g.132672294T= GRCh38
NC_000012.11:g.133248880T= , CM000674.1:g.133248880T= GRCh37
NC_000012.10:g.131758953T= NCBI36
NG_033840.1:g.20231A= , LRG_789:g.20231A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000539215.6:c.470A=
ENST00000699982.1:c.1569A=
ENST00000699983.1:c.1569A=
ENST00000699984.1:c.1569A=
ENST00000320574.10:c.1715A= MANE Select ENSP00000322570.5:p.Gln572=
ENST00000672742.1:c.*1217A= ENSP00000500279.1:n.*1217A=
ENST00000320574.9:c.1715A= ENSP00000322570.5:p.Gln572=
ENST00000535270.5:c.1634A= ENSP00000445753.1:p.Gln545=
ENST00000537064.5:c.*762A= ENSP00000442578.1:n.*762A=
ENST00000539215.5:n.470A=
NM_006231.3:c.1715A= , LRG_789t1:c.1715A= NP_006222.2:p.Gln572=
XM_011534795.1:c.1715A= XP_011533097.1:p.Gln572=
XM_011534796.1:c.1586A= XP_011533098.1:p.Gln529=
XM_011534797.1:c.794A= XP_011533099.1:p.Gln265=
XM_011534798.1:c.377A= XP_011533100.1:p.Gln126=
XM_011534799.1:c.1715A= XP_011533101.1:p.Gln572=
XM_011534800.1:c.1715A= XP_011533102.1:p.Gln572=
XM_011534801.1:c.1715A= XP_011533103.1:p.Gln572=
XR_941395.1:n.1924A=
XM_011534795.3:c.1715A= XP_011533097.1:p.Gln572=
XM_011534797.3:c.794A= XP_011533099.1:p.Gln265=
XM_011534799.2:c.1715A= XP_011533101.1:p.Gln572=
XR_002957338.1:n.1919A=
XR_002957339.1:n.1919A=
XR_941395.2:n.1919A=
NM_006231.4:c.1715A= MANE Select NP_006222.2:p.Gln572=