Canonical Allele Identifier: CA387358520

Gene: POLE

Linked Data

• dbSNP Id: rs1593072353
• MyVariant Identifiers: chr12:g.133249814T>G (hg19) ; chr12:g.132673228T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673228T>G , CM000674.2:g.132673228T>G	GRCh38
NC_000012.11:g.133249814T>G , CM000674.1:g.133249814T>G	GRCh37
NC_000012.10:g.131759887T>G	NCBI36
NG_033840.1:g.19297A>C , LRG_789:g.19297A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.117A>C
ENST00000545015.2:n.1436A>C
ENST00000699982.1:c.1263A>C
ENST00000699983.1:c.1263A>C
ENST00000699984.1:c.1263A>C
ENST00000320574.10:c.1409A>C MANE Select	ENSP00000322570.5:p.Tyr470Ser
ENST00000672742.1:c.*911A>C	ENSP00000500279.1:n.*911A>C
ENST00000320574.9:c.1409A>C	ENSP00000322570.5:p.Tyr470Ser
ENST00000535270.5:c.1328A>C	ENSP00000445753.1:p.Tyr443Ser
ENST00000535934.2:n.1284A>C
ENST00000537064.5:c.*456A>C	ENSP00000442578.1:n.*456A>C
ENST00000539215.5:n.117A>C
ENST00000545015.1:n.6A>C
NM_006231.3:c.1409A>C , LRG_789t1:c.1409A>C	NP_006222.2:p.Tyr470Ser
XM_011534795.1:c.1409A>C	XP_011533097.1:p.Tyr470Ser
XM_011534796.1:c.1280A>C	XP_011533098.1:p.Tyr427Ser
XM_011534797.1:c.488A>C	XP_011533099.1:p.Tyr163Ser
XM_011534798.1:c.71A>C	XP_011533100.1:p.Tyr24Ser
XM_011534799.1:c.1409A>C	XP_011533101.1:p.Tyr470Ser
XM_011534800.1:c.1409A>C	XP_011533102.1:p.Tyr470Ser
XM_011534801.1:c.1409A>C	XP_011533103.1:p.Tyr470Ser
XR_941395.1:n.1618A>C
XM_011534795.3:c.1409A>C	XP_011533097.1:p.Tyr470Ser
XM_011534797.3:c.488A>C	XP_011533099.1:p.Tyr163Ser
XM_011534799.2:c.1409A>C	XP_011533101.1:p.Tyr470Ser
XR_002957338.1:n.1613A>C
XR_002957339.1:n.1613A>C
XR_941395.2:n.1613A>C
NM_006231.4:c.1409A>C MANE Select	NP_006222.2:p.Tyr470Ser