Canonical Allele Identifier: CA2073001662
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132673259C= , CM000674.2:g.132673259C= GRCh38
NC_000012.11:g.133249845C= , CM000674.1:g.133249845C= GRCh37
NC_000012.10:g.131759918C= NCBI36
NG_033840.1:g.19266G= , LRG_789:g.19266G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000539215.6:c.86G=
ENST00000545015.2:n.1405G=
ENST00000699982.1:c.1232G=
ENST00000699983.1:c.1232G=
ENST00000699984.1:c.1232G=
ENST00000320574.10:c.1378G= MANE Select ENSP00000322570.5:p.Val460=
ENST00000672742.1:c.*880G= ENSP00000500279.1:n.*880G=
ENST00000320574.9:c.1378G= ENSP00000322570.5:p.Val460=
ENST00000535270.5:c.1297G= ENSP00000445753.1:p.Val433=
ENST00000535934.2:n.1253G=
ENST00000537064.5:c.*425G= ENSP00000442578.1:n.*425G=
ENST00000539215.5:n.86G=
NM_006231.3:c.1378G= , LRG_789t1:c.1378G= NP_006222.2:p.Val460=
XM_011534795.1:c.1378G= XP_011533097.1:p.Val460=
XM_011534796.1:c.1249G= XP_011533098.1:p.Val417=
XM_011534797.1:c.457G= XP_011533099.1:p.Val153=
XM_011534798.1:c.40G= XP_011533100.1:p.Val14=
XM_011534799.1:c.1378G= XP_011533101.1:p.Val460=
XM_011534800.1:c.1378G= XP_011533102.1:p.Val460=
XM_011534801.1:c.1378G= XP_011533103.1:p.Val460=
XR_941395.1:n.1587G=
XM_011534795.3:c.1378G= XP_011533097.1:p.Val460=
XM_011534797.3:c.457G= XP_011533099.1:p.Val153=
XM_011534799.2:c.1378G= XP_011533101.1:p.Val460=
XR_002957338.1:n.1582G=
XR_002957339.1:n.1582G=
XR_941395.2:n.1582G=
NM_006231.4:c.1378G= MANE Select NP_006222.2:p.Val460=