Canonical Allele Identifier: CA2073001908
Community Standard Title: NM_006231.4(POLE):c.1231G= (p.Val411=)
Gene: POLE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132673703C= , CM000674.2:g.132673703C= GRCh38
NC_000012.11:g.133250289C= , CM000674.1:g.133250289C= GRCh37
NC_000012.10:g.131760362C= NCBI36
NG_033840.1:g.18822G= , LRG_789:g.18822G=

Transcript Alleles

HGVS Amino-acid Change
NM_006231.4:c.1231G= MANE Select NP_006222.2:p.Val411=
ENST00000320574.10:c.1231G= MANE Select ENSP00000322570.5:p.Val411=
NM_006231.3:c.1231G= , LRG_789t1:c.1231G= NP_006222.2:p.Val411=
ENST00000320574.9:c.1231G= ENSP00000322570.5:p.Val411=
ENST00000535270.5:c.1150G= ENSP00000445753.1:p.Val384=
ENST00000535934.2:n.1106G=
ENST00000537064.5:c.*278G= ENSP00000442578.1:n.*278G=
ENST00000545015.2:n.1258G=
ENST00000672742.1:c.*733G= ENSP00000500279.1:n.*733G=
ENST00000699982.1:c.1085G=
ENST00000699983.1:c.1085G=
ENST00000699984.1:c.1085G=
XM_011534795.1:c.1231G= XP_011533097.1:p.Val411=
XM_011534795.3:c.1231G= XP_011533097.1:p.Val411=
XM_011534796.1:c.1102G= XP_011533098.1:p.Val368=
XM_011534797.1:c.310G= XP_011533099.1:p.Val104=
XM_011534797.3:c.310G= XP_011533099.1:p.Val104=
XM_011534799.1:c.1231G= XP_011533101.1:p.Val411=
XM_011534799.2:c.1231G= XP_011533101.1:p.Val411=
XM_011534800.1:c.1231G= XP_011533102.1:p.Val411=
XM_011534801.1:c.1231G= XP_011533103.1:p.Val411=
XR_002957338.1:n.1435G=
XR_002957339.1:n.1435G=
XR_941395.1:n.1440G=
XR_941395.2:n.1435G=