Canonical Allele Identifier: CA2697551607

Gene: POLE

Linked Data

• ClinVar Variation Id: 2766816
• ClinVar RCV Id: RCV003580461
• dbSNP Id: rs2135998900

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673564G>A , CM000674.2:g.132673564G>A	GRCh38
NC_000012.11:g.133250150G>A , CM000674.1:g.133250150G>A	GRCh37
NC_000012.10:g.131760223G>A	NCBI36
NG_033840.1:g.18961C>T , LRG_789:g.18961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.67+11C>T
ENST00000545015.2:n.1386+11C>T
ENST00000699982.1:c.1213+11C>T
ENST00000699983.1:c.1213+11C>T
ENST00000699984.1:c.1213+11C>T
ENST00000320574.10:c.1359+11C>T MANE Select	ENSP00000322570.5:n.1359+11C>T
ENST00000672742.1:c.*861+11C>T	ENSP00000500279.1:n.*861+11C>T
ENST00000320574.9:c.1359+11C>T	ENSP00000322570.5:n.1359+11C>T
ENST00000535270.5:c.1278+11C>T	ENSP00000445753.1:n.1278+11C>T
ENST00000535934.2:n.1234+11C>T
ENST00000537064.5:c.*406+11C>T	ENSP00000442578.1:n.*406+11C>T
ENST00000539215.5:n.67+11C>T
NM_006231.3:c.1359+11C>T , LRG_789t1:c.1359+11C>T	NP_006222.2:n.1359+11C>T
XM_011534795.1:c.1359+11C>T	XP_011533097.1:n.1359+11C>T
XM_011534796.1:c.1230+11C>T	XP_011533098.1:n.1230+11C>T
XM_011534797.1:c.438+11C>T	XP_011533099.1:n.438+11C>T
XM_011534798.1:c.-40C>T	XP_011533100.1:n.-40C>T
XM_011534799.1:c.1359+11C>T	XP_011533101.1:n.1359+11C>T
XM_011534800.1:c.1359+11C>T	XP_011533102.1:n.1359+11C>T
XM_011534801.1:c.1359+11C>T	XP_011533103.1:n.1359+11C>T
XR_941395.1:n.1568+11C>T
XM_011534795.3:c.1359+11C>T	XP_011533097.1:n.1359+11C>T
XM_011534797.3:c.438+11C>T	XP_011533099.1:n.438+11C>T
XM_011534799.2:c.1359+11C>T	XP_011533101.1:n.1359+11C>T
XR_002957338.1:n.1563+11C>T
XR_002957339.1:n.1563+11C>T
XR_941395.2:n.1563+11C>T
NM_006231.4:c.1359+11C>T MANE Select	NP_006222.2:n.1359+11C>T