Canonical Allele Identifier: CA387358346

Gene: POLE

Linked Data

• dbSNP Id: rs2135996151
• MyVariant Identifiers: chr12:g.133249793A>T (hg19) ; chr12:g.132673207A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673207A>T , CM000674.2:g.132673207A>T	GRCh38
NC_000012.11:g.133249793A>T , CM000674.1:g.133249793A>T	GRCh37
NC_000012.10:g.131759866A>T	NCBI36
NG_033840.1:g.19318T>A , LRG_789:g.19318T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.138T>A
ENST00000545015.2:n.1457T>A
ENST00000699982.1:c.1284T>A
ENST00000699983.1:c.1284T>A
ENST00000699984.1:c.1284T>A
ENST00000320574.10:c.1430T>A MANE Select	ENSP00000322570.5:p.Phe477Tyr
ENST00000672742.1:c.*932T>A	ENSP00000500279.1:n.*932T>A
ENST00000320574.9:c.1430T>A	ENSP00000322570.5:p.Phe477Tyr
ENST00000535270.5:c.1349T>A	ENSP00000445753.1:p.Phe450Tyr
ENST00000535934.2:n.1305T>A
ENST00000537064.5:c.*477T>A	ENSP00000442578.1:n.*477T>A
ENST00000539215.5:n.138T>A
ENST00000545015.1:n.27T>A
NM_006231.3:c.1430T>A , LRG_789t1:c.1430T>A	NP_006222.2:p.Phe477Tyr
XM_011534795.1:c.1430T>A	XP_011533097.1:p.Phe477Tyr
XM_011534796.1:c.1301T>A	XP_011533098.1:p.Phe434Tyr
XM_011534797.1:c.509T>A	XP_011533099.1:p.Phe170Tyr
XM_011534798.1:c.92T>A	XP_011533100.1:p.Phe31Tyr
XM_011534799.1:c.1430T>A	XP_011533101.1:p.Phe477Tyr
XM_011534800.1:c.1430T>A	XP_011533102.1:p.Phe477Tyr
XM_011534801.1:c.1430T>A	XP_011533103.1:p.Phe477Tyr
XR_941395.1:n.1639T>A
XM_011534795.3:c.1430T>A	XP_011533097.1:p.Phe477Tyr
XM_011534797.3:c.509T>A	XP_011533099.1:p.Phe170Tyr
XM_011534799.2:c.1430T>A	XP_011533101.1:p.Phe477Tyr
XR_002957338.1:n.1634T>A
XR_002957339.1:n.1634T>A
XR_941395.2:n.1634T>A
NM_006231.4:c.1430T>A MANE Select	NP_006222.2:p.Phe477Tyr