Canonical Allele Identifier: CA2073001062
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132672225T= , CM000674.2:g.132672225T= GRCh38
NC_000012.11:g.133248811T= , CM000674.1:g.133248811T= GRCh37
NC_000012.10:g.131758884T= NCBI36
NG_033840.1:g.20300A= , LRG_789:g.20300A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000539215.6:c.539A=
ENST00000699982.1:c.1638A=
ENST00000699983.1:c.1638A=
ENST00000699984.1:c.1638A=
ENST00000320574.10:c.1784A= MANE Select ENSP00000322570.5:p.Asn595=
ENST00000672742.1:c.*1286A= ENSP00000500279.1:n.*1286A=
ENST00000320574.9:c.1784A= ENSP00000322570.5:p.Asn595=
ENST00000535270.5:c.1703A= ENSP00000445753.1:p.Asn568=
ENST00000537064.5:c.*831A= ENSP00000442578.1:n.*831A=
NM_006231.3:c.1784A= , LRG_789t1:c.1784A= NP_006222.2:p.Asn595=
XM_011534795.1:c.1784A= XP_011533097.1:p.Asn595=
XM_011534796.1:c.1655A= XP_011533098.1:p.Asn552=
XM_011534797.1:c.863A= XP_011533099.1:p.Asn288=
XM_011534798.1:c.446A= XP_011533100.1:p.Asn149=
XM_011534799.1:c.1784A= XP_011533101.1:p.Asn595=
XM_011534800.1:c.1784A= XP_011533102.1:p.Asn595=
XM_011534801.1:c.1784A= XP_011533103.1:p.Asn595=
XR_941395.1:n.1993A=
XM_011534795.3:c.1784A= XP_011533097.1:p.Asn595=
XM_011534797.3:c.863A= XP_011533099.1:p.Asn288=
XM_011534799.2:c.1784A= XP_011533101.1:p.Asn595=
XR_002957338.1:n.1988A=
XR_002957339.1:n.1988A=
XR_941395.2:n.1988A=
NM_006231.4:c.1784A= MANE Select NP_006222.2:p.Asn595=