Canonical Allele Identifier: CA6893662

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132668358G>A , CM000674.2:g.132668358G>A	GRCh38
NC_000012.11:g.133244944G>A , CM000674.1:g.133244944G>A	GRCh37
NC_000012.10:g.131755017G>A	NCBI36
NG_033840.1:g.24167C>T , LRG_789:g.24167C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.2171C>T MANE Select	NP_006222.2:p.Ala724Val
ENST00000320574.10:c.2171C>T MANE Select	ENSP00000322570.5:p.Ala724Val
NM_006231.3:c.2171C>T , LRG_789t1:c.2171C>T	NP_006222.2:p.Ala724Val
ENST00000320574.9:c.2171C>T	ENSP00000322570.5:p.Ala724Val
ENST00000535270.5:c.2090C>T	ENSP00000445753.1:p.Ala697Val
ENST00000537064.5:c.*1218C>T	ENSP00000442578.1:n.*1218C>T
ENST00000672742.1:c.*1673C>T	ENSP00000500279.1:n.*1673C>T
ENST00000699982.1:c.2025C>T
ENST00000699983.1:c.2025C>T
ENST00000699984.1:c.2025C>T
XM_011534795.1:c.2171C>T	XP_011533097.1:p.Ala724Val
XM_011534795.3:c.2171C>T	XP_011533097.1:p.Ala724Val
XM_011534796.1:c.2042C>T	XP_011533098.1:p.Ala681Val
XM_011534797.1:c.1250C>T	XP_011533099.1:p.Ala417Val
XM_011534797.3:c.1250C>T	XP_011533099.1:p.Ala417Val
XM_011534798.1:c.833C>T	XP_011533100.1:p.Ala278Val
XM_011534799.1:c.2171C>T	XP_011533101.1:p.Ala724Val
XM_011534799.2:c.2171C>T	XP_011533101.1:p.Ala724Val
XM_011534800.1:c.2171C>T	XP_011533102.1:p.Ala724Val
XM_011534801.1:c.2171C>T	XP_011533103.1:p.Ala724Val
XR_002957338.1:n.2375C>T
XR_002957339.1:n.2375C>T
XR_941395.1:n.2380C>T
XR_941395.2:n.2375C>T