Canonical Allele Identifier: CA2073003194
Community Standard Title: NM_006231.4(POLE):c.1007A= (p.Asn336=)
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132676107T= , CM000674.2:g.132676107T= GRCh38
NC_000012.11:g.133252693T= , CM000674.1:g.133252693T= GRCh37
NC_000012.10:g.131762766T= NCBI36
NG_033840.1:g.16418A= , LRG_789:g.16418A=

Transcript Alleles

HGVS Amino-acid Change
NM_006231.4:c.1007A= MANE Select NP_006222.2:p.Asn336=
ENST00000320574.10:c.1007A= MANE Select ENSP00000322570.5:p.Asn336=
NM_006231.3:c.1007A= , LRG_789t1:c.1007A= NP_006222.2:p.Asn336=
ENST00000320574.9:c.1007A= ENSP00000322570.5:p.Asn336=
ENST00000535270.5:c.926A= ENSP00000445753.1:p.Asn309=
ENST00000535934.2:n.392A=
ENST00000537064.5:c.*54A= ENSP00000442578.1:n.*54A=
ENST00000545015.2:n.1034A=
ENST00000672742.1:c.*501A= ENSP00000500279.1:n.*501A=
ENST00000699982.1:c.853A=
ENST00000699983.1:c.853A=
ENST00000699984.1:c.853A=
XM_011534795.1:c.1007A= XP_011533097.1:p.Asn336=
XM_011534795.3:c.1007A= XP_011533097.1:p.Asn336=
XM_011534796.1:c.878A= XP_011533098.1:p.Asn293=
XM_011534797.1:c.86A= XP_011533099.1:p.Asn29=
XM_011534797.3:c.86A= XP_011533099.1:p.Asn29=
XM_011534799.1:c.1007A= XP_011533101.1:p.Asn336=
XM_011534799.2:c.1007A= XP_011533101.1:p.Asn336=
XM_011534800.1:c.1007A= XP_011533102.1:p.Asn336=
XM_011534801.1:c.1007A= XP_011533103.1:p.Asn336=
XR_002957338.1:n.1211A=
XR_002957339.1:n.1211A=
XR_941395.1:n.1216A=
XR_941395.2:n.1211A=