Canonical Allele Identifier: CA2073001612
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132673176C= , CM000674.2:g.132673176C= GRCh38
NC_000012.11:g.133249762C= , CM000674.1:g.133249762C= GRCh37
NC_000012.10:g.131759835C= NCBI36
NG_033840.1:g.19349G= , LRG_789:g.19349G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000539215.6:c.169G=
ENST00000545015.2:n.1488G=
ENST00000699982.1:c.1315G=
ENST00000699983.1:c.1315G=
ENST00000699984.1:c.1315G=
ENST00000320574.10:c.1461G= MANE Select ENSP00000322570.5:p.Met487=
ENST00000672742.1:c.*963G= ENSP00000500279.1:n.*963G=
ENST00000320574.9:c.1461G= ENSP00000322570.5:p.Met487=
ENST00000535270.5:c.1380G= ENSP00000445753.1:p.Met460=
ENST00000535934.2:n.1336G=
ENST00000537064.5:c.*508G= ENSP00000442578.1:n.*508G=
ENST00000539215.5:n.169G=
ENST00000545015.1:n.58G=
NM_006231.3:c.1461G= , LRG_789t1:c.1461G= NP_006222.2:p.Met487=
XM_011534795.1:c.1461G= XP_011533097.1:p.Met487=
XM_011534796.1:c.1332G= XP_011533098.1:p.Met444=
XM_011534797.1:c.540G= XP_011533099.1:p.Met180=
XM_011534798.1:c.123G= XP_011533100.1:p.Met41=
XM_011534799.1:c.1461G= XP_011533101.1:p.Met487=
XM_011534800.1:c.1461G= XP_011533102.1:p.Met487=
XM_011534801.1:c.1461G= XP_011533103.1:p.Met487=
XR_941395.1:n.1670G=
XM_011534795.3:c.1461G= XP_011533097.1:p.Met487=
XM_011534797.3:c.540G= XP_011533099.1:p.Met180=
XM_011534799.2:c.1461G= XP_011533101.1:p.Met487=
XR_002957338.1:n.1665G=
XR_002957339.1:n.1665G=
XR_941395.2:n.1665G=
NM_006231.4:c.1461G= MANE Select NP_006222.2:p.Met487=