Canonical Allele Identifier: CA2073001651
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132673244C= , CM000674.2:g.132673244C= GRCh38
NC_000012.11:g.133249830C= , CM000674.1:g.133249830C= GRCh37
NC_000012.10:g.131759903C= NCBI36
NG_033840.1:g.19281G= , LRG_789:g.19281G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000539215.6:c.101G=
ENST00000545015.2:n.1420G=
ENST00000699982.1:c.1247G=
ENST00000699983.1:c.1247G=
ENST00000699984.1:c.1247G=
ENST00000320574.10:c.1393G= MANE Select ENSP00000322570.5:p.Ala465=
ENST00000672742.1:c.*895G= ENSP00000500279.1:n.*895G=
ENST00000320574.9:c.1393G= ENSP00000322570.5:p.Ala465=
ENST00000535270.5:c.1312G= ENSP00000445753.1:p.Ala438=
ENST00000535934.2:n.1268G=
ENST00000537064.5:c.*440G= ENSP00000442578.1:n.*440G=
ENST00000539215.5:n.101G=
NM_006231.3:c.1393G= , LRG_789t1:c.1393G= NP_006222.2:p.Ala465=
XM_011534795.1:c.1393G= XP_011533097.1:p.Ala465=
XM_011534796.1:c.1264G= XP_011533098.1:p.Ala422=
XM_011534797.1:c.472G= XP_011533099.1:p.Ala158=
XM_011534798.1:c.55G= XP_011533100.1:p.Ala19=
XM_011534799.1:c.1393G= XP_011533101.1:p.Ala465=
XM_011534800.1:c.1393G= XP_011533102.1:p.Ala465=
XM_011534801.1:c.1393G= XP_011533103.1:p.Ala465=
XR_941395.1:n.1602G=
XM_011534795.3:c.1393G= XP_011533097.1:p.Ala465=
XM_011534797.3:c.472G= XP_011533099.1:p.Ala158=
XM_011534799.2:c.1393G= XP_011533101.1:p.Ala465=
XR_002957338.1:n.1597G=
XR_002957339.1:n.1597G=
XR_941395.2:n.1597G=
NM_006231.4:c.1393G= MANE Select NP_006222.2:p.Ala465=