Canonical Allele Identifier: CA350833
Gene: POLE HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.132676594A>T
GRCh37 chr12:g.133253180A>T
Revel Score:
ENST00000320574 (MANE Select) 0.286
ENST00000455752 0.286
ENST00000535270 0.286
ENST00000539006 0.286
ENST00000376577 0.286
gnomAD v2:
12:133253180 A / T
gnomAD v3:
12:132676594 A / T
gnomAD v4:
chr12-132676594-A-T
Joint Max Group AF 0.00169784 (NFE)
Genomes Max Group AF 0.00186292 (NFE)
Exomes Max Group AF 0.00167225 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132676594A>T , CM000674.2:g.132676594A>T GRCh38
NC_000012.11:g.133253180A>T , CM000674.1:g.133253180A>T GRCh37
NC_000012.10:g.131763253A>T NCBI36
NG_033840.1:g.15931T>A , LRG_789:g.15931T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545015.2:n.888T>A
ENST00000699982.1:c.707T>A
ENST00000699983.1:c.707T>A
ENST00000699984.1:c.707T>A
ENST00000320574.10:c.861T>A MANE Select ENSP00000322570.5:p.Asp287Glu
ENST00000672742.1:c.*355T>A ENSP00000500279.1:n.*355T>A
ENST00000320574.9:c.861T>A ENSP00000322570.5:p.Asp287Glu
ENST00000535270.5:c.780T>A ENSP00000445753.1:p.Asp260Glu
ENST00000537064.5:c.861T>A ENSP00000442578.1:p.Asp287Glu
NM_006231.3:c.861T>A , LRG_789t1:c.861T>A NP_006222.2:p.Asp287Glu
XM_011534795.1:c.861T>A XP_011533097.1:p.Asp287Glu
XM_011534796.1:c.732T>A XP_011533098.1:p.Asp244Glu
XM_011534797.1:c.-41T>A XP_011533099.1:n.-41T>A
XM_011534799.1:c.861T>A XP_011533101.1:p.Asp287Glu
XM_011534800.1:c.861T>A XP_011533102.1:p.Asp287Glu
XM_011534801.1:c.861T>A XP_011533103.1:p.Asp287Glu
XR_941395.1:n.1070T>A
XM_011534795.3:c.861T>A XP_011533097.1:p.Asp287Glu
XM_011534797.3:c.-41T>A XP_011533099.1:n.-41T>A
XM_011534799.2:c.861T>A XP_011533101.1:p.Asp287Glu
XR_002957338.1:n.1065T>A
XR_002957339.1:n.1065T>A
XR_941395.2:n.1065T>A
NM_006231.4:c.861T>A MANE Select NP_006222.2:p.Asp287Glu
Search 100 bp 5'
Search 100 bp 3'