Canonical Allele Identifier: CA387358270

Gene: POLE

Linked Data

• dbSNP Id: rs2135996069
• MyVariant Identifiers: chr12:g.133249786A>T (hg19) ; chr12:g.132673200A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673200A>T , CM000674.2:g.132673200A>T	GRCh38
NC_000012.11:g.133249786A>T , CM000674.1:g.133249786A>T	GRCh37
NC_000012.10:g.131759859A>T	NCBI36
NG_033840.1:g.19325T>A , LRG_789:g.19325T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.145T>A
ENST00000545015.2:n.1464T>A
ENST00000699982.1:c.1291T>A
ENST00000699983.1:c.1291T>A
ENST00000699984.1:c.1291T>A
ENST00000320574.10:c.1437T>A MANE Select	ENSP00000322570.5:p.Phe479Leu
ENST00000672742.1:c.*939T>A	ENSP00000500279.1:n.*939T>A
ENST00000320574.9:c.1437T>A	ENSP00000322570.5:p.Phe479Leu
ENST00000535270.5:c.1356T>A	ENSP00000445753.1:p.Phe452Leu
ENST00000535934.2:n.1312T>A
ENST00000537064.5:c.*484T>A	ENSP00000442578.1:n.*484T>A
ENST00000539215.5:n.145T>A
ENST00000545015.1:n.34T>A
NM_006231.3:c.1437T>A , LRG_789t1:c.1437T>A	NP_006222.2:p.Phe479Leu
XM_011534795.1:c.1437T>A	XP_011533097.1:p.Phe479Leu
XM_011534796.1:c.1308T>A	XP_011533098.1:p.Phe436Leu
XM_011534797.1:c.516T>A	XP_011533099.1:p.Phe172Leu
XM_011534798.1:c.99T>A	XP_011533100.1:p.Phe33Leu
XM_011534799.1:c.1437T>A	XP_011533101.1:p.Phe479Leu
XM_011534800.1:c.1437T>A	XP_011533102.1:p.Phe479Leu
XM_011534801.1:c.1437T>A	XP_011533103.1:p.Phe479Leu
XR_941395.1:n.1646T>A
XM_011534795.3:c.1437T>A	XP_011533097.1:p.Phe479Leu
XM_011534797.3:c.516T>A	XP_011533099.1:p.Phe172Leu
XM_011534799.2:c.1437T>A	XP_011533101.1:p.Phe479Leu
XR_002957338.1:n.1641T>A
XR_002957339.1:n.1641T>A
XR_941395.2:n.1641T>A
NM_006231.4:c.1437T>A MANE Select	NP_006222.2:p.Phe479Leu