Canonical Allele Identifier: CA387368436
Gene: POLE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132680048T>C , CM000674.2:g.132680048T>C GRCh38
NC_000012.11:g.133256634T>C , CM000674.1:g.133256634T>C GRCh37
NC_000012.10:g.131766707T>C NCBI36
NG_033840.1:g.12477A>G , LRG_789:g.12477A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545015.2:n.358-2A>G
ENST00000699982.1:c.177-2A>G
ENST00000699983.1:c.177-2A>G
ENST00000699984.1:c.177-2A>G
ENST00000699985.1:n.392-2A>G
ENST00000320574.10:c.331-2A>G MANE Select ENSP00000322570.5:n.331-2A>G
ENST00000672742.1:c.331-2A>G ENSP00000500279.1:n.331-2A>G
ENST00000320574.9:c.331-2A>G ENSP00000322570.5:n.331-2A>G
ENST00000535270.5:c.250-2A>G ENSP00000445753.1:n.250-2A>G
ENST00000537064.5:c.331-2A>G ENSP00000442578.1:n.331-2A>G
NM_006231.3:c.331-2A>G , LRG_789t1:c.331-2A>G NP_006222.2:n.331-2A>G
XM_011534795.1:c.331-2A>G XP_011533097.1:n.331-2A>G
XM_011534796.1:c.202-2A>G XP_011533098.1:n.202-2A>G
XM_011534799.1:c.331-2A>G XP_011533101.1:n.331-2A>G
XM_011534800.1:c.331-2A>G XP_011533102.1:n.331-2A>G
XM_011534801.1:c.331-2A>G XP_011533103.1:n.331-2A>G
XR_941395.1:n.540-2A>G
XM_011534795.3:c.331-2A>G XP_011533097.1:n.331-2A>G
XM_011534799.2:c.331-2A>G XP_011533101.1:n.331-2A>G
XR_002957338.1:n.535-2A>G
XR_002957339.1:n.535-2A>G
XR_941395.2:n.535-2A>G
NM_006231.4:c.331-2A>G MANE Select NP_006222.2:n.331-2A>G
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