Canonical Allele Identifier: CA2073001069
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132672237T= , CM000674.2:g.132672237T= GRCh38
NC_000012.11:g.133248823T= , CM000674.1:g.133248823T= GRCh37
NC_000012.10:g.131758896T= NCBI36
NG_033840.1:g.20288A= , LRG_789:g.20288A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000539215.6:c.527A=
ENST00000699982.1:c.1626A=
ENST00000699983.1:c.1626A=
ENST00000699984.1:c.1626A=
ENST00000320574.10:c.1772A= MANE Select ENSP00000322570.5:p.Glu591=
ENST00000672742.1:c.*1274A= ENSP00000500279.1:n.*1274A=
ENST00000320574.9:c.1772A= ENSP00000322570.5:p.Glu591=
ENST00000535270.5:c.1691A= ENSP00000445753.1:p.Glu564=
ENST00000537064.5:c.*819A= ENSP00000442578.1:n.*819A=
NM_006231.3:c.1772A= , LRG_789t1:c.1772A= NP_006222.2:p.Glu591=
XM_011534795.1:c.1772A= XP_011533097.1:p.Glu591=
XM_011534796.1:c.1643A= XP_011533098.1:p.Glu548=
XM_011534797.1:c.851A= XP_011533099.1:p.Glu284=
XM_011534798.1:c.434A= XP_011533100.1:p.Glu145=
XM_011534799.1:c.1772A= XP_011533101.1:p.Glu591=
XM_011534800.1:c.1772A= XP_011533102.1:p.Glu591=
XM_011534801.1:c.1772A= XP_011533103.1:p.Glu591=
XR_941395.1:n.1981A=
XM_011534795.3:c.1772A= XP_011533097.1:p.Glu591=
XM_011534797.3:c.851A= XP_011533099.1:p.Glu284=
XM_011534799.2:c.1772A= XP_011533101.1:p.Glu591=
XR_002957338.1:n.1976A=
XR_002957339.1:n.1976A=
XR_941395.2:n.1976A=
NM_006231.4:c.1772A= MANE Select NP_006222.2:p.Glu591=