Canonical Allele Identifier: CA2838283677

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132626033T>C , CM000674.2:g.132626033T>C	GRCh38
NC_000012.11:g.133202619T>C , CM000674.1:g.133202619T>C	GRCh37
NC_000012.10:g.131712692T>C	NCBI36
NG_033840.1:g.66492A>G , LRG_789:g.66492A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.2069+84A>G	ENSP00000500921.1:n.2069+84A>G
ENST00000534922.6:n.444+84A>G
ENST00000544870.6:c.4184+84A>G	ENSP00000479927.2:n.4184+84A>G
ENST00000699981.1:n.4185+84A>G
ENST00000699982.1:c.6385+84A>G
ENST00000699983.1:c.7089+84A>G
ENST00000699984.1:c.6317+84A>G
ENST00000320574.10:c.6531+84A>G MANE Select	ENSP00000322570.5:n.6531+84A>G
ENST00000434528.4:c.2069+84A>G	ENSP00000500921.1:n.2069+84A>G
ENST00000672002.1:c.4204+84A>G	ENSP00000500233.1:n.4204+84A>G
ENST00000672742.1:c.*6737+84A>G	ENSP00000500279.1:n.*6737+84A>G
ENST00000320574.9:c.6531+84A>G	ENSP00000322570.5:n.6531+84A>G
ENST00000534922.5:n.444+84A>G
ENST00000535270.5:c.6450+84A>G	ENSP00000445753.1:n.6450+84A>G
ENST00000537064.5:c.*6282+84A>G	ENSP00000442578.1:n.*6282+84A>G
ENST00000538196.1:n.303+84A>G
ENST00000544692.5:n.1900+84A>G
NM_006231.3:c.6531+84A>G , LRG_789t1:c.6531+84A>G	NP_006222.2:n.6531+84A>G
XM_011534795.1:c.6531+84A>G	XP_011533097.1:n.6531+84A>G
XM_011534796.1:c.6402+84A>G	XP_011533098.1:n.6402+84A>G
XM_011534797.1:c.5610+84A>G	XP_011533099.1:n.5610+84A>G
XM_011534798.1:c.5193+84A>G	XP_011533100.1:n.5193+84A>G
XM_011534802.1:c.3519+84A>G	XP_011533104.1:n.3519+84A>G
XM_011534795.3:c.6531+84A>G	XP_011533097.1:n.6531+84A>G
XM_011534797.3:c.5610+84A>G	XP_011533099.1:n.5610+84A>G
XM_011534802.3:c.3519+84A>G	XP_011533104.1:n.3519+84A>G
XR_002957339.1:n.7161A>G
NM_006231.4:c.6531+84A>G MANE Select	NP_006222.2:n.6531+84A>G