Canonical Allele Identifier: CA2072985346
Community Standard Title: NM_006231.4(POLE):c.5378+553T=
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132641094A= , CM000674.2:g.132641094A= GRCh38
NC_000012.11:g.133217680A= , CM000674.1:g.133217680A= GRCh37
NC_000012.10:g.131727753A= NCBI36
NG_033840.1:g.51431T= , LRG_789:g.51431T=

Transcript Alleles

HGVS Amino-acid Change
NM_006231.4:c.5378+553T= MANE Select NP_006222.2:n.5378+553T=
ENST00000320574.10:c.5378+553T= MANE Select ENSP00000322570.5:n.5378+553T=
NM_006231.3:c.5378+553T= , LRG_789t1:c.5378+553T= NP_006222.2:n.5378+553T=
ENST00000320574.9:c.5378+553T= ENSP00000322570.5:n.5378+553T=
ENST00000416953.3:n.3472T=
ENST00000434528.3:n.285T=
ENST00000434528.4:c.840T= ENSP00000500921.1:n.840T=
ENST00000434528.5:c.840T= ENSP00000500921.1:n.840T=
ENST00000535270.5:c.5297+553T= ENSP00000445753.1:n.5297+553T=
ENST00000537064.5:c.*5129+553T= ENSP00000442578.1:n.*5129+553T=
ENST00000544870.6:c.3051+553T= ENSP00000479927.2:n.3051+553T=
ENST00000672002.1:c.3051+553T= ENSP00000500233.1:n.3051+553T=
ENST00000672742.1:c.*5584+553T= ENSP00000500279.1:n.*5584+553T=
ENST00000699981.1:n.3032+553T=
ENST00000699982.1:c.5232+553T=
ENST00000699983.1:c.5936+553T=
ENST00000699984.1:c.5232+553T=
XM_011534795.1:c.5378+553T= XP_011533097.1:n.5378+553T=
XM_011534795.3:c.5378+553T= XP_011533097.1:n.5378+553T=
XM_011534796.1:c.5249+553T= XP_011533098.1:n.5249+553T=
XM_011534797.1:c.4457+553T= XP_011533099.1:n.4457+553T=
XM_011534797.3:c.4457+553T= XP_011533099.1:n.4457+553T=
XM_011534798.1:c.4040+553T= XP_011533100.1:n.4040+553T=
XM_011534799.1:c.*232T= XP_011533101.1:n.*232T=
XM_011534799.2:c.*232T= XP_011533101.1:n.*232T=
XM_011534800.1:c.*232T= XP_011533102.1:n.*232T=
XM_011534802.1:c.2366+553T= XP_011533104.1:n.2366+553T=
XM_011534802.3:c.2366+553T= XP_011533104.1:n.2366+553T=
XR_002957338.1:n.6135T=
XR_002957339.1:n.5848T=
XR_941395.2:n.5631+553T=