Canonical Allele Identifier: CA6892741
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132642843G>A , CM000674.2:g.132642843G>A GRCh38
NC_000012.11:g.133219429G>A , CM000674.1:g.133219429G>A GRCh37
NC_000012.10:g.131729502G>A NCBI36
NG_033840.1:g.49682C>T , LRG_789:g.49682C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000416953.3:n.2328C>T
ENST00000544870.6:c.2378C>T ENSP00000479927.2:n.2378C>T
ENST00000699981.1:n.2359C>T
ENST00000699982.1:c.4559C>T
ENST00000699983.1:c.5263C>T
ENST00000699984.1:c.4559C>T
ENST00000320574.10:c.4705C>T MANE Select ENSP00000322570.5:p.Gln1569Ter
ENST00000672002.1:c.2378C>T ENSP00000500233.1:n.2378C>T
ENST00000672742.1:c.*4911C>T ENSP00000500279.1:n.*4911C>T
ENST00000320574.9:c.4705C>T ENSP00000322570.5:p.Gln1569Ter
ENST00000535270.5:c.4624C>T ENSP00000445753.1:p.Gln1542Ter
ENST00000537064.5:c.*4456C>T ENSP00000442578.1:n.*4456C>T
NM_006231.3:c.4705C>T , LRG_789t1:c.4705C>T NP_006222.2:p.Gln1569Ter
XM_011534795.1:c.4705C>T XP_011533097.1:p.Gln1569Ter
XM_011534796.1:c.4576C>T XP_011533098.1:p.Gln1526Ter
XM_011534797.1:c.3784C>T XP_011533099.1:p.Gln1262Ter
XM_011534798.1:c.3367C>T XP_011533100.1:p.Gln1123Ter
XM_011534799.1:c.4705C>T XP_011533101.1:p.Gln1569Ter
XM_011534800.1:c.4705C>T XP_011533102.1:p.Gln1569Ter
XM_011534802.1:c.1693C>T XP_011533104.1:p.Gln565Ter
XR_941395.1:n.4963C>T
XM_011534795.3:c.4705C>T XP_011533097.1:p.Gln1569Ter
XM_011534797.3:c.3784C>T XP_011533099.1:p.Gln1262Ter
XM_011534799.2:c.4705C>T XP_011533101.1:p.Gln1569Ter
XM_011534802.3:c.1693C>T XP_011533104.1:p.Gln565Ter
XR_002957338.1:n.4909C>T
XR_002957339.1:n.4909C>T
XR_941395.2:n.4958C>T
NM_006231.4:c.4705C>T MANE Select NP_006222.2:p.Gln1569Ter