Canonical Allele Identifier: CA2727421839

Gene: POLE

Linked Data

• dbSNP Id: rs774086345

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673568T>A , CM000674.2:g.132673568T>A	GRCh38
NC_000012.11:g.133250154T>A , CM000674.1:g.133250154T>A	GRCh37
NC_000012.10:g.131760227T>A	NCBI36
NG_033840.1:g.18957A>T , LRG_789:g.18957A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.67+7A>T
ENST00000545015.2:n.1386+7A>T
ENST00000699982.1:c.1213+7A>T
ENST00000699983.1:c.1213+7A>T
ENST00000699984.1:c.1213+7A>T
ENST00000320574.10:c.1359+7A>T MANE Select	ENSP00000322570.5:n.1359+7A>T
ENST00000672742.1:c.*861+7A>T	ENSP00000500279.1:n.*861+7A>T
ENST00000320574.9:c.1359+7A>T	ENSP00000322570.5:n.1359+7A>T
ENST00000535270.5:c.1278+7A>T	ENSP00000445753.1:n.1278+7A>T
ENST00000535934.2:n.1234+7A>T
ENST00000537064.5:c.*406+7A>T	ENSP00000442578.1:n.*406+7A>T
ENST00000539215.5:n.67+7A>T
NM_006231.3:c.1359+7A>T , LRG_789t1:c.1359+7A>T	NP_006222.2:n.1359+7A>T
XM_011534795.1:c.1359+7A>T	XP_011533097.1:n.1359+7A>T
XM_011534796.1:c.1230+7A>T	XP_011533098.1:n.1230+7A>T
XM_011534797.1:c.438+7A>T	XP_011533099.1:n.438+7A>T
XM_011534798.1:c.-44A>T	XP_011533100.1:n.-44A>T
XM_011534799.1:c.1359+7A>T	XP_011533101.1:n.1359+7A>T
XM_011534800.1:c.1359+7A>T	XP_011533102.1:n.1359+7A>T
XM_011534801.1:c.1359+7A>T	XP_011533103.1:n.1359+7A>T
XR_941395.1:n.1568+7A>T
XM_011534795.3:c.1359+7A>T	XP_011533097.1:n.1359+7A>T
XM_011534797.3:c.438+7A>T	XP_011533099.1:n.438+7A>T
XM_011534799.2:c.1359+7A>T	XP_011533101.1:n.1359+7A>T
XR_002957338.1:n.1563+7A>T
XR_002957339.1:n.1563+7A>T
XR_941395.2:n.1563+7A>T
NM_006231.4:c.1359+7A>T MANE Select	NP_006222.2:n.1359+7A>T