Canonical Allele Identifier: CA387358787

Gene: POLE

Linked Data

• dbSNP Id: rs2135996937
• MyVariant Identifiers: chr12:g.133249850T>G (hg19) ; chr12:g.132673264T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673264T>G , CM000674.2:g.132673264T>G	GRCh38
NC_000012.11:g.133249850T>G , CM000674.1:g.133249850T>G	GRCh37
NC_000012.10:g.131759923T>G	NCBI36
NG_033840.1:g.19261A>C , LRG_789:g.19261A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.81A>C
ENST00000545015.2:n.1400A>C
ENST00000699982.1:c.1227A>C
ENST00000699983.1:c.1227A>C
ENST00000699984.1:c.1227A>C
ENST00000320574.10:c.1373A>C MANE Select	ENSP00000322570.5:p.Tyr458Ser
ENST00000672742.1:c.*875A>C	ENSP00000500279.1:n.*875A>C
ENST00000320574.9:c.1373A>C	ENSP00000322570.5:p.Tyr458Ser
ENST00000535270.5:c.1292A>C	ENSP00000445753.1:p.Tyr431Ser
ENST00000535934.2:n.1248A>C
ENST00000537064.5:c.*420A>C	ENSP00000442578.1:n.*420A>C
ENST00000539215.5:n.81A>C
NM_006231.3:c.1373A>C , LRG_789t1:c.1373A>C	NP_006222.2:p.Tyr458Ser
XM_011534795.1:c.1373A>C	XP_011533097.1:p.Tyr458Ser
XM_011534796.1:c.1244A>C	XP_011533098.1:p.Tyr415Ser
XM_011534797.1:c.452A>C	XP_011533099.1:p.Tyr151Ser
XM_011534798.1:c.35A>C	XP_011533100.1:p.Tyr12Ser
XM_011534799.1:c.1373A>C	XP_011533101.1:p.Tyr458Ser
XM_011534800.1:c.1373A>C	XP_011533102.1:p.Tyr458Ser
XM_011534801.1:c.1373A>C	XP_011533103.1:p.Tyr458Ser
XR_941395.1:n.1582A>C
XM_011534795.3:c.1373A>C	XP_011533097.1:p.Tyr458Ser
XM_011534797.3:c.452A>C	XP_011533099.1:p.Tyr151Ser
XM_011534799.2:c.1373A>C	XP_011533101.1:p.Tyr458Ser
XR_002957338.1:n.1577A>C
XR_002957339.1:n.1577A>C
XR_941395.2:n.1577A>C
NM_006231.4:c.1373A>C MANE Select	NP_006222.2:p.Tyr458Ser