Canonical Allele Identifier: CA348615

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132642215G>A , CM000674.2:g.132642215G>A	GRCh38
NC_000012.11:g.133218801G>A , CM000674.1:g.133218801G>A	GRCh37
NC_000012.10:g.131728874G>A	NCBI36
NG_033840.1:g.50310C>T , LRG_789:g.50310C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.2676C>T
ENST00000434528.5:c.44C>T	ENSP00000500921.1:p.Ala15Val
ENST00000544870.6:c.2808C>T	ENSP00000479927.2:n.2808C>T
ENST00000699981.1:n.2789C>T
ENST00000699982.1:c.4989C>T
ENST00000699983.1:c.5693C>T
ENST00000699984.1:c.4989C>T
ENST00000320574.10:c.5135C>T MANE Select	ENSP00000322570.5:p.Ala1712Val
ENST00000434528.4:c.44C>T	ENSP00000500921.1:p.Ala15Val
ENST00000672002.1:c.2808C>T	ENSP00000500233.1:n.2808C>T
ENST00000672742.1:c.*5341C>T	ENSP00000500279.1:n.*5341C>T
ENST00000320574.9:c.5135C>T	ENSP00000322570.5:p.Ala1712Val
ENST00000535270.5:c.5054C>T	ENSP00000445753.1:p.Ala1685Val
ENST00000537064.5:c.*4886C>T	ENSP00000442578.1:n.*4886C>T
NM_006231.3:c.5135C>T , LRG_789t1:c.5135C>T	NP_006222.2:p.Ala1712Val
XM_011534795.1:c.5135C>T	XP_011533097.1:p.Ala1712Val
XM_011534796.1:c.5006C>T	XP_011533098.1:p.Ala1669Val
XM_011534797.1:c.4214C>T	XP_011533099.1:p.Ala1405Val
XM_011534798.1:c.3797C>T	XP_011533100.1:p.Ala1266Val
XM_011534799.1:c.5135C>T	XP_011533101.1:p.Ala1712Val
XM_011534800.1:c.5135C>T	XP_011533102.1:p.Ala1712Val
XM_011534802.1:c.2123C>T	XP_011533104.1:p.Ala708Val
XM_011534795.3:c.5135C>T	XP_011533097.1:p.Ala1712Val
XM_011534797.3:c.4214C>T	XP_011533099.1:p.Ala1405Val
XM_011534799.2:c.5135C>T	XP_011533101.1:p.Ala1712Val
XM_011534802.3:c.2123C>T	XP_011533104.1:p.Ala708Val
XR_002957338.1:n.5339C>T
XR_002957339.1:n.5339C>T
XR_941395.2:n.5388C>T
NM_006231.4:c.5135C>T MANE Select	NP_006222.2:p.Ala1712Val