Canonical Allele Identifier: CA387364295

Gene: POLE

Linked Data

• dbSNP Id: rs2136015984
• MyVariant Identifiers: chr12:g.133253193A>T (hg19) ; chr12:g.132676607A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676607A>T , CM000674.2:g.132676607A>T	GRCh38
NC_000012.11:g.133253193A>T , CM000674.1:g.133253193A>T	GRCh37
NC_000012.10:g.131763266A>T	NCBI36
NG_033840.1:g.15918T>A , LRG_789:g.15918T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.875T>A
ENST00000699982.1:c.694T>A
ENST00000699983.1:c.694T>A
ENST00000699984.1:c.694T>A
ENST00000320574.10:c.848T>A MANE Select	ENSP00000322570.5:p.Leu283His
ENST00000672742.1:c.*342T>A	ENSP00000500279.1:n.*342T>A
ENST00000320574.9:c.848T>A	ENSP00000322570.5:p.Leu283His
ENST00000535270.5:c.767T>A	ENSP00000445753.1:p.Leu256His
ENST00000537064.5:c.848T>A	ENSP00000442578.1:p.Leu283His
NM_006231.3:c.848T>A , LRG_789t1:c.848T>A	NP_006222.2:p.Leu283His
XM_011534795.1:c.848T>A	XP_011533097.1:p.Leu283His
XM_011534796.1:c.719T>A	XP_011533098.1:p.Leu240His
XM_011534797.1:c.-54T>A	XP_011533099.1:n.-54T>A
XM_011534799.1:c.848T>A	XP_011533101.1:p.Leu283His
XM_011534800.1:c.848T>A	XP_011533102.1:p.Leu283His
XM_011534801.1:c.848T>A	XP_011533103.1:p.Leu283His
XR_941395.1:n.1057T>A
XM_011534795.3:c.848T>A	XP_011533097.1:p.Leu283His
XM_011534797.3:c.-54T>A	XP_011533099.1:n.-54T>A
XM_011534799.2:c.848T>A	XP_011533101.1:p.Leu283His
XR_002957338.1:n.1052T>A
XR_002957339.1:n.1052T>A
XR_941395.2:n.1052T>A
NM_006231.4:c.848T>A MANE Select	NP_006222.2:p.Leu283His