Canonical Allele Identifier: CA387358509

Gene: POLE

Linked Data

• ClinVar Variation Id: 1407558
• ClinVar RCV Id: RCV003657443
• dbSNP Id: rs1593072345
• MyVariant Identifiers: chr12:g.133249813G>C (hg19) ; chr12:g.132673227G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673227G>C , CM000674.2:g.132673227G>C	GRCh38
NC_000012.11:g.133249813G>C , CM000674.1:g.133249813G>C	GRCh37
NC_000012.10:g.131759886G>C	NCBI36
NG_033840.1:g.19298C>G , LRG_789:g.19298C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.118C>G
ENST00000545015.2:n.1437C>G
ENST00000699982.1:c.1264C>G
ENST00000699983.1:c.1264C>G
ENST00000699984.1:c.1264C>G
ENST00000320574.10:c.1410C>G MANE Select	ENSP00000322570.5:p.Tyr470Ter
ENST00000672742.1:c.*912C>G	ENSP00000500279.1:n.*912C>G
ENST00000320574.9:c.1410C>G	ENSP00000322570.5:p.Tyr470Ter
ENST00000535270.5:c.1329C>G	ENSP00000445753.1:p.Tyr443Ter
ENST00000535934.2:n.1285C>G
ENST00000537064.5:c.*457C>G	ENSP00000442578.1:n.*457C>G
ENST00000539215.5:n.118C>G
ENST00000545015.1:n.7C>G
NM_006231.3:c.1410C>G , LRG_789t1:c.1410C>G	NP_006222.2:p.Tyr470Ter
XM_011534795.1:c.1410C>G	XP_011533097.1:p.Tyr470Ter
XM_011534796.1:c.1281C>G	XP_011533098.1:p.Tyr427Ter
XM_011534797.1:c.489C>G	XP_011533099.1:p.Tyr163Ter
XM_011534798.1:c.72C>G	XP_011533100.1:p.Tyr24Ter
XM_011534799.1:c.1410C>G	XP_011533101.1:p.Tyr470Ter
XM_011534800.1:c.1410C>G	XP_011533102.1:p.Tyr470Ter
XM_011534801.1:c.1410C>G	XP_011533103.1:p.Tyr470Ter
XR_941395.1:n.1619C>G
XM_011534795.3:c.1410C>G	XP_011533097.1:p.Tyr470Ter
XM_011534797.3:c.489C>G	XP_011533099.1:p.Tyr163Ter
XM_011534799.2:c.1410C>G	XP_011533101.1:p.Tyr470Ter
XR_002957338.1:n.1614C>G
XR_002957339.1:n.1614C>G
XR_941395.2:n.1614C>G
NM_006231.4:c.1410C>G MANE Select	NP_006222.2:p.Tyr470Ter