Canonical Allele Identifier: CA387358339

Gene: POLE

Linked Data

• dbSNP Id: rs2135996129
• MyVariant Identifiers: chr12:g.133249792G>T (hg19) ; chr12:g.132673206G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673206G>T , CM000674.2:g.132673206G>T	GRCh38
NC_000012.11:g.133249792G>T , CM000674.1:g.133249792G>T	GRCh37
NC_000012.10:g.131759865G>T	NCBI36
NG_033840.1:g.19319C>A , LRG_789:g.19319C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.139C>A
ENST00000545015.2:n.1458C>A
ENST00000699982.1:c.1285C>A
ENST00000699983.1:c.1285C>A
ENST00000699984.1:c.1285C>A
ENST00000320574.10:c.1431C>A MANE Select	ENSP00000322570.5:p.Phe477Leu
ENST00000672742.1:c.*933C>A	ENSP00000500279.1:n.*933C>A
ENST00000320574.9:c.1431C>A	ENSP00000322570.5:p.Phe477Leu
ENST00000535270.5:c.1350C>A	ENSP00000445753.1:p.Phe450Leu
ENST00000535934.2:n.1306C>A
ENST00000537064.5:c.*478C>A	ENSP00000442578.1:n.*478C>A
ENST00000539215.5:n.139C>A
ENST00000545015.1:n.28C>A
NM_006231.3:c.1431C>A , LRG_789t1:c.1431C>A	NP_006222.2:p.Phe477Leu
XM_011534795.1:c.1431C>A	XP_011533097.1:p.Phe477Leu
XM_011534796.1:c.1302C>A	XP_011533098.1:p.Phe434Leu
XM_011534797.1:c.510C>A	XP_011533099.1:p.Phe170Leu
XM_011534798.1:c.93C>A	XP_011533100.1:p.Phe31Leu
XM_011534799.1:c.1431C>A	XP_011533101.1:p.Phe477Leu
XM_011534800.1:c.1431C>A	XP_011533102.1:p.Phe477Leu
XM_011534801.1:c.1431C>A	XP_011533103.1:p.Phe477Leu
XR_941395.1:n.1640C>A
XM_011534795.3:c.1431C>A	XP_011533097.1:p.Phe477Leu
XM_011534797.3:c.510C>A	XP_011533099.1:p.Phe170Leu
XM_011534799.2:c.1431C>A	XP_011533101.1:p.Phe477Leu
XR_002957338.1:n.1635C>A
XR_002957339.1:n.1635C>A
XR_941395.2:n.1635C>A
NM_006231.4:c.1431C>A MANE Select	NP_006222.2:p.Phe477Leu