Canonical Allele Identifier: CA2073001833
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132673574C= , CM000674.2:g.132673574C= GRCh38
NC_000012.11:g.133250160C= , CM000674.1:g.133250160C= GRCh37
NC_000012.10:g.131760233C= NCBI36
NG_033840.1:g.18951G= , LRG_789:g.18951G=

Transcript Alleles

HGVS Amino-acid change
ENST00000539215.6:c.67+1G=
ENST00000545015.2:n.1386+1G=
ENST00000699982.1:c.1213+1G=
ENST00000699983.1:c.1213+1G=
ENST00000699984.1:c.1213+1G=
ENST00000320574.10:c.1359+1G= MANE Select ENSP00000322570.5:n.1359+1G=
ENST00000672742.1:c.*861+1G= ENSP00000500279.1:n.*861+1G=
ENST00000320574.9:c.1359+1G= ENSP00000322570.5:n.1359+1G=
ENST00000535270.5:c.1278+1G= ENSP00000445753.1:n.1278+1G=
ENST00000535934.2:n.1234+1G=
ENST00000537064.5:c.*406+1G= ENSP00000442578.1:n.*406+1G=
ENST00000539215.5:n.67+1G=
NM_006231.3:c.1359+1G= , LRG_789t1:c.1359+1G= NP_006222.2:n.1359+1G=
XM_011534795.1:c.1359+1G= XP_011533097.1:n.1359+1G=
XM_011534796.1:c.1230+1G= XP_011533098.1:n.1230+1G=
XM_011534797.1:c.438+1G= XP_011533099.1:n.438+1G=
XM_011534798.1:c.-50G= XP_011533100.1:n.-50G=
XM_011534799.1:c.1359+1G= XP_011533101.1:n.1359+1G=
XM_011534800.1:c.1359+1G= XP_011533102.1:n.1359+1G=
XM_011534801.1:c.1359+1G= XP_011533103.1:n.1359+1G=
XR_941395.1:n.1568+1G=
XM_011534795.3:c.1359+1G= XP_011533097.1:n.1359+1G=
XM_011534797.3:c.438+1G= XP_011533099.1:n.438+1G=
XM_011534799.2:c.1359+1G= XP_011533101.1:n.1359+1G=
XR_002957338.1:n.1563+1G=
XR_002957339.1:n.1563+1G=
XR_941395.2:n.1563+1G=
NM_006231.4:c.1359+1G= MANE Select NP_006222.2:n.1359+1G=