Canonical Allele Identifier: CA6893591

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132665463T>C , CM000674.2:g.132665463T>C	GRCh38
NC_000012.11:g.133242049T>C , CM000674.1:g.133242049T>C	GRCh37
NC_000012.10:g.131752122T>C	NCBI36
NG_033840.1:g.27062A>G , LRG_789:g.27062A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699982.1:c.2174-13A>G
ENST00000699983.1:c.2174-13A>G
ENST00000699984.1:c.2174-13A>G
ENST00000320574.10:c.2320-13A>G MANE Select	ENSP00000322570.5:n.2320-13A>G
ENST00000672742.1:c.*1822-13A>G	ENSP00000500279.1:n.*1822-13A>G
ENST00000320574.9:c.2320-13A>G	ENSP00000322570.5:n.2320-13A>G
ENST00000535270.5:c.2239-13A>G	ENSP00000445753.1:n.2239-13A>G
ENST00000537064.5:c.*1367-13A>G	ENSP00000442578.1:n.*1367-13A>G
NM_006231.3:c.2320-13A>G , LRG_789t1:c.2320-13A>G	NP_006222.2:n.2320-13A>G
XM_011534795.1:c.2320-13A>G	XP_011533097.1:n.2320-13A>G
XM_011534796.1:c.2191-13A>G	XP_011533098.1:n.2191-13A>G
XM_011534797.1:c.1399-13A>G	XP_011533099.1:n.1399-13A>G
XM_011534798.1:c.982-13A>G	XP_011533100.1:n.982-13A>G
XM_011534799.1:c.2320-13A>G	XP_011533101.1:n.2320-13A>G
XM_011534800.1:c.2320-13A>G	XP_011533102.1:n.2320-13A>G
XM_011534801.1:c.2320-13A>G	XP_011533103.1:n.2320-13A>G
XR_941395.1:n.2529-13A>G
XM_011534795.3:c.2320-13A>G	XP_011533097.1:n.2320-13A>G
XM_011534797.3:c.1399-13A>G	XP_011533099.1:n.1399-13A>G
XM_011534799.2:c.2320-13A>G	XP_011533101.1:n.2320-13A>G
XR_002957338.1:n.2524-13A>G
XR_002957339.1:n.2524-13A>G
XR_941395.2:n.2524-13A>G
NM_006231.4:c.2320-13A>G MANE Select	NP_006222.2:n.2320-13A>G