Canonical Allele Identifier: CA6892256
Gene: POLE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132632509C>T , CM000674.2:g.132632509C>T GRCh38
NC_000012.11:g.133209095C>T , CM000674.1:g.133209095C>T GRCh37
NC_000012.10:g.131719168C>T NCBI36
NG_033840.1:g.60016G>A , LRG_789:g.60016G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000434528.5:c.1675-1G>A ENSP00000500921.1:n.1675-1G>A
ENST00000534922.6:n.49G>A
ENST00000544870.6:c.3810-21G>A ENSP00000479927.2:n.3810-21G>A
ENST00000699981.1:n.3791-1G>A
ENST00000699982.1:c.5991-1G>A
ENST00000699983.1:c.6695-1G>A
ENST00000699984.1:c.5991-69G>A
ENST00000320574.10:c.6137-1G>A MANE Select ENSP00000322570.5:n.6137-1G>A
ENST00000434528.4:c.1675-1G>A ENSP00000500921.1:n.1675-1G>A
ENST00000672002.1:c.3810-1G>A ENSP00000500233.1:n.3810-1G>A
ENST00000672742.1:c.*6343-1G>A ENSP00000500279.1:n.*6343-1G>A
ENST00000320574.9:c.6137-1G>A ENSP00000322570.5:n.6137-1G>A
ENST00000441786.3:c.427-72G>A
ENST00000534922.5:n.49G>A
ENST00000535270.5:c.6056-1G>A ENSP00000445753.1:n.6056-1G>A
ENST00000537064.5:c.*5888-1G>A ENSP00000442578.1:n.*5888-1G>A
ENST00000541213.5:n.1615-1G>A
ENST00000544414.1:n.574G>A
ENST00000544692.5:n.1506-1G>A
ENST00000544870.5:c.435-21G>A
NM_006231.3:c.6137-1G>A , LRG_789t1:c.6137-1G>A NP_006222.2:n.6137-1G>A
XM_011534795.1:c.6137-1G>A XP_011533097.1:n.6137-1G>A
XM_011534796.1:c.6008-1G>A XP_011533098.1:n.6008-1G>A
XM_011534797.1:c.5216-1G>A XP_011533099.1:n.5216-1G>A
XM_011534798.1:c.4799-1G>A XP_011533100.1:n.4799-1G>A
XM_011534802.1:c.3125-1G>A XP_011533104.1:n.3125-1G>A
XM_011534795.3:c.6137-1G>A XP_011533097.1:n.6137-1G>A
XM_011534797.3:c.5216-1G>A XP_011533099.1:n.5216-1G>A
XM_011534802.3:c.3125-1G>A XP_011533104.1:n.3125-1G>A
XR_002957339.1:n.6683-1G>A
NM_006231.4:c.6137-1G>A MANE Select NP_006222.2:n.6137-1G>A
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