Canonical Allele Identifier: CA2072980818
Community Standard Title: NM_006231.4(POLE):c.6103C= (p.Gln2035=)
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132632697G= , CM000674.2:g.132632697G= GRCh38
NC_000012.11:g.133209283G= , CM000674.1:g.133209283G= GRCh37
NC_000012.10:g.131719356G= NCBI36
NG_033840.1:g.59828C= , LRG_789:g.59828C=

Transcript Alleles

HGVS Amino-acid Change
NM_006231.4:c.6103C= MANE Select NP_006222.2:p.Gln2035=
ENST00000320574.10:c.6103C= MANE Select ENSP00000322570.5:p.Gln2035=
NM_006231.3:c.6103C= , LRG_789t1:c.6103C= NP_006222.2:p.Gln2035=
ENST00000320574.9:c.6103C= ENSP00000322570.5:p.Gln2035=
ENST00000434528.4:c.1641C= ENSP00000500921.1:n.1641C=
ENST00000434528.5:c.1641C= ENSP00000500921.1:n.1641C=
ENST00000441786.3:c.393C=
ENST00000535270.5:c.6022C= ENSP00000445753.1:p.Gln2008=
ENST00000537064.5:c.*5854C= ENSP00000442578.1:n.*5854C=
ENST00000541213.5:n.1581C=
ENST00000544414.1:n.386C=
ENST00000544692.5:n.1472C=
ENST00000544870.5:c.401C=
ENST00000544870.6:c.3776C= ENSP00000479927.2:n.3776C=
ENST00000672002.1:c.3776C= ENSP00000500233.1:n.3776C=
ENST00000672742.1:c.*6309C= ENSP00000500279.1:n.*6309C=
ENST00000699981.1:n.3757C=
ENST00000699982.1:c.5957C=
ENST00000699983.1:c.6661C=
ENST00000699984.1:c.5957C=
XM_011534795.1:c.6103C= XP_011533097.1:p.Gln2035=
XM_011534795.3:c.6103C= XP_011533097.1:p.Gln2035=
XM_011534796.1:c.5974C= XP_011533098.1:p.Gln1992=
XM_011534797.1:c.5182C= XP_011533099.1:p.Gln1728=
XM_011534797.3:c.5182C= XP_011533099.1:p.Gln1728=
XM_011534798.1:c.4765C= XP_011533100.1:p.Gln1589=
XM_011534802.1:c.3091C= XP_011533104.1:p.Gln1031=
XM_011534802.3:c.3091C= XP_011533104.1:p.Gln1031=
XR_002957339.1:n.6649C=