Canonical Allele Identifier: CA387354358

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132668480G>C , CM000674.2:g.132668480G>C	GRCh38
NC_000012.11:g.133245066G>C , CM000674.1:g.133245066G>C	GRCh37
NC_000012.10:g.131755139G>C	NCBI36
NG_033840.1:g.24045C>G , LRG_789:g.24045C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.2049C>G MANE Select	NP_006222.2:p.Tyr683Ter
ENST00000320574.10:c.2049C>G MANE Select	ENSP00000322570.5:p.Tyr683Ter
NM_006231.3:c.2049C>G , LRG_789t1:c.2049C>G	NP_006222.2:p.Tyr683Ter
ENST00000320574.9:c.2049C>G	ENSP00000322570.5:p.Tyr683Ter
ENST00000535270.5:c.1968C>G	ENSP00000445753.1:p.Tyr656Ter
ENST00000537064.5:c.*1096C>G	ENSP00000442578.1:n.*1096C>G
ENST00000672742.1:c.*1551C>G	ENSP00000500279.1:n.*1551C>G
ENST00000699982.1:c.1903C>G
ENST00000699983.1:c.1903C>G
ENST00000699984.1:c.1903C>G
XM_011534795.1:c.2049C>G	XP_011533097.1:p.Tyr683Ter
XM_011534795.3:c.2049C>G	XP_011533097.1:p.Tyr683Ter
XM_011534796.1:c.1920C>G	XP_011533098.1:p.Tyr640Ter
XM_011534797.1:c.1128C>G	XP_011533099.1:p.Tyr376Ter
XM_011534797.3:c.1128C>G	XP_011533099.1:p.Tyr376Ter
XM_011534798.1:c.711C>G	XP_011533100.1:p.Tyr237Ter
XM_011534799.1:c.2049C>G	XP_011533101.1:p.Tyr683Ter
XM_011534799.2:c.2049C>G	XP_011533101.1:p.Tyr683Ter
XM_011534800.1:c.2049C>G	XP_011533102.1:p.Tyr683Ter
XM_011534801.1:c.2049C>G	XP_011533103.1:p.Tyr683Ter
XR_002957338.1:n.2253C>G
XR_002957339.1:n.2253C>G
XR_941395.1:n.2258C>G
XR_941395.2:n.2253C>G