Canonical Allele Identifier: CA387365561

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132624705C>A , CM000674.2:g.132624705C>A	GRCh38
NC_000012.11:g.133201291C>A , CM000674.1:g.133201291C>A	GRCh37
NC_000012.10:g.131711364C>A	NCBI36
NG_033840.1:g.67820G>T , LRG_789:g.67820G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.6853G>T MANE Select	NP_006222.2:p.Gly2285Cys
ENST00000320574.10:c.6853G>T MANE Select	ENSP00000322570.5:p.Gly2285Cys
NM_006231.3:c.6853G>T , LRG_789t1:c.6853G>T	NP_006222.2:p.Gly2285Cys
ENST00000320574.9:c.6853G>T	ENSP00000322570.5:p.Gly2285Cys
ENST00000434528.4:c.2391G>T	ENSP00000500921.1:n.2391G>T
ENST00000434528.5:c.2391G>T	ENSP00000500921.1:n.2391G>T
ENST00000534922.5:n.1510G>T
ENST00000535270.5:c.6772G>T	ENSP00000445753.1:p.Gly2258Cys
ENST00000537064.5:c.*6604G>T	ENSP00000442578.1:n.*6604G>T
ENST00000541627.2:n.1153G>T
ENST00000544870.6:c.4506G>T	ENSP00000479927.2:n.4506G>T
ENST00000672002.1:c.4526G>T	ENSP00000500233.1:n.4526G>T
ENST00000672742.1:c.*7059G>T	ENSP00000500279.1:n.*7059G>T
ENST00000699981.1:n.4507G>T
ENST00000699982.1:c.6707G>T
ENST00000699983.1:c.7411G>T
ENST00000699984.1:c.6639G>T
XR_002957339.1:n.7745G>T