Canonical Allele Identifier: CA2073001898
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132673677C= , CM000674.2:g.132673677C= GRCh38
NC_000012.11:g.133250263C= , CM000674.1:g.133250263C= GRCh37
NC_000012.10:g.131760336C= NCBI36
NG_033840.1:g.18848G= , LRG_789:g.18848G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545015.2:n.1284G=
ENST00000699982.1:c.1111G=
ENST00000699983.1:c.1111G=
ENST00000699984.1:c.1111G=
ENST00000320574.10:c.1257G= MANE Select ENSP00000322570.5:p.Val419=
ENST00000672742.1:c.*759G= ENSP00000500279.1:n.*759G=
ENST00000320574.9:c.1257G= ENSP00000322570.5:p.Val419=
ENST00000535270.5:c.1176G= ENSP00000445753.1:p.Val392=
ENST00000535934.2:n.1132G=
ENST00000537064.5:c.*304G= ENSP00000442578.1:n.*304G=
NM_006231.3:c.1257G= , LRG_789t1:c.1257G= NP_006222.2:p.Val419=
XM_011534795.1:c.1257G= XP_011533097.1:p.Val419=
XM_011534796.1:c.1128G= XP_011533098.1:p.Val376=
XM_011534797.1:c.336G= XP_011533099.1:p.Val112=
XM_011534799.1:c.1257G= XP_011533101.1:p.Val419=
XM_011534800.1:c.1257G= XP_011533102.1:p.Val419=
XM_011534801.1:c.1257G= XP_011533103.1:p.Val419=
XR_941395.1:n.1466G=
XM_011534795.3:c.1257G= XP_011533097.1:p.Val419=
XM_011534797.3:c.336G= XP_011533099.1:p.Val112=
XM_011534799.2:c.1257G= XP_011533101.1:p.Val419=
XR_002957338.1:n.1461G=
XR_002957339.1:n.1461G=
XR_941395.2:n.1461G=
NM_006231.4:c.1257G= MANE Select NP_006222.2:p.Val419=