Canonical Allele Identifier: CA6891972

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132624807A>G , CM000674.2:g.132624807A>G	GRCh38
NC_000012.11:g.133201393A>G , CM000674.1:g.133201393A>G	GRCh37
NC_000012.10:g.131711466A>G	NCBI36
NG_033840.1:g.67718T>C , LRG_789:g.67718T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.2289T>C	ENSP00000500921.1:n.2289T>C
ENST00000544870.6:c.4404T>C	ENSP00000479927.2:n.4404T>C
ENST00000699981.1:n.4405T>C
ENST00000699982.1:c.6605T>C
ENST00000699983.1:c.7309T>C
ENST00000699984.1:c.6537T>C
ENST00000320574.10:c.6751T>C MANE Select	ENSP00000322570.5:p.Phe2251Leu
ENST00000434528.4:c.2289T>C	ENSP00000500921.1:n.2289T>C
ENST00000672002.1:c.4424T>C	ENSP00000500233.1:n.4424T>C
ENST00000672742.1:c.*6957T>C	ENSP00000500279.1:n.*6957T>C
ENST00000320574.9:c.6751T>C	ENSP00000322570.5:p.Phe2251Leu
ENST00000534922.5:n.1408T>C
ENST00000535270.5:c.6670T>C	ENSP00000445753.1:p.Phe2224Leu
ENST00000537064.5:c.*6502T>C	ENSP00000442578.1:n.*6502T>C
ENST00000541627.2:n.1051T>C
ENST00000544692.5:n.2120T>C
NM_006231.3:c.6751T>C , LRG_789t1:c.6751T>C	NP_006222.2:p.Phe2251Leu
XR_002957339.1:n.7643T>C
NM_006231.4:c.6751T>C MANE Select	NP_006222.2:p.Phe2251Leu