Canonical Allele Identifier: CA387365912

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132624805G>C , CM000674.2:g.132624805G>C	GRCh38
NC_000012.11:g.133201391G>C , CM000674.1:g.133201391G>C	GRCh37
NC_000012.10:g.131711464G>C	NCBI36
NG_033840.1:g.67720C>G , LRG_789:g.67720C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.2291C>G	ENSP00000500921.1:n.2291C>G
ENST00000544870.6:c.4406C>G	ENSP00000479927.2:n.4406C>G
ENST00000699981.1:n.4407C>G
ENST00000699982.1:c.6607C>G
ENST00000699983.1:c.7311C>G
ENST00000699984.1:c.6539C>G
ENST00000320574.10:c.6753C>G MANE Select	ENSP00000322570.5:p.Phe2251Leu
ENST00000434528.4:c.2291C>G	ENSP00000500921.1:n.2291C>G
ENST00000672002.1:c.4426C>G	ENSP00000500233.1:n.4426C>G
ENST00000672742.1:c.*6959C>G	ENSP00000500279.1:n.*6959C>G
ENST00000320574.9:c.6753C>G	ENSP00000322570.5:p.Phe2251Leu
ENST00000534922.5:n.1410C>G
ENST00000535270.5:c.6672C>G	ENSP00000445753.1:p.Phe2224Leu
ENST00000537064.5:c.*6504C>G	ENSP00000442578.1:n.*6504C>G
ENST00000541627.2:n.1053C>G
ENST00000544692.5:n.2122C>G
NM_006231.3:c.6753C>G , LRG_789t1:c.6753C>G	NP_006222.2:p.Phe2251Leu
XR_002957339.1:n.7645C>G
NM_006231.4:c.6753C>G MANE Select	NP_006222.2:p.Phe2251Leu