Canonical Allele Identifier: CA2073001893
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132673667T= , CM000674.2:g.132673667T= GRCh38
NC_000012.11:g.133250253T= , CM000674.1:g.133250253T= GRCh37
NC_000012.10:g.131760326T= NCBI36
NG_033840.1:g.18858A= , LRG_789:g.18858A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000545015.2:n.1294A=
ENST00000699982.1:c.1121A=
ENST00000699983.1:c.1121A=
ENST00000699984.1:c.1121A=
ENST00000320574.10:c.1267A= MANE Select ENSP00000322570.5:p.Asn423=
ENST00000672742.1:c.*769A= ENSP00000500279.1:n.*769A=
ENST00000320574.9:c.1267A= ENSP00000322570.5:p.Asn423=
ENST00000535270.5:c.1186A= ENSP00000445753.1:p.Asn396=
ENST00000535934.2:n.1142A=
ENST00000537064.5:c.*314A= ENSP00000442578.1:n.*314A=
NM_006231.3:c.1267A= , LRG_789t1:c.1267A= NP_006222.2:p.Asn423=
XM_011534795.1:c.1267A= XP_011533097.1:p.Asn423=
XM_011534796.1:c.1138A= XP_011533098.1:p.Asn380=
XM_011534797.1:c.346A= XP_011533099.1:p.Asn116=
XM_011534799.1:c.1267A= XP_011533101.1:p.Asn423=
XM_011534800.1:c.1267A= XP_011533102.1:p.Asn423=
XM_011534801.1:c.1267A= XP_011533103.1:p.Asn423=
XR_941395.1:n.1476A=
XM_011534795.3:c.1267A= XP_011533097.1:p.Asn423=
XM_011534797.3:c.346A= XP_011533099.1:p.Asn116=
XM_011534799.2:c.1267A= XP_011533101.1:p.Asn423=
XR_002957338.1:n.1471A=
XR_002957339.1:n.1471A=
XR_941395.2:n.1471A=
NM_006231.4:c.1267A= MANE Select NP_006222.2:p.Asn423=