Canonical Allele Identifier: CA482849628

Gene: POLE

Linked Data

• dbSNP Id: rs2135990955
• MyVariant Identifiers: chr12:g.133248879C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672293C>T , CM000674.2:g.132672293C>T	GRCh38
NC_000012.11:g.133248879C>T , CM000674.1:g.133248879C>T	GRCh37
NC_000012.10:g.131758952C>T	NCBI36
NG_033840.1:g.20232G>A , LRG_789:g.20232G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.471G>A
ENST00000699982.1:c.1570G>A
ENST00000699983.1:c.1570G>A
ENST00000699984.1:c.1570G>A
ENST00000320574.10:c.1716G>A MANE Select	ENSP00000322570.5:p.Gln572=
ENST00000672742.1:c.*1218G>A	ENSP00000500279.1:n.*1218G>A
ENST00000320574.9:c.1716G>A	ENSP00000322570.5:p.Gln572=
ENST00000535270.5:c.1635G>A	ENSP00000445753.1:p.Gln545=
ENST00000537064.5:c.*763G>A	ENSP00000442578.1:n.*763G>A
ENST00000539215.5:n.471G>A
NM_006231.3:c.1716G>A , LRG_789t1:c.1716G>A	NP_006222.2:p.Gln572=
XM_011534795.1:c.1716G>A	XP_011533097.1:p.Gln572=
XM_011534796.1:c.1587G>A	XP_011533098.1:p.Gln529=
XM_011534797.1:c.795G>A	XP_011533099.1:p.Gln265=
XM_011534798.1:c.378G>A	XP_011533100.1:p.Gln126=
XM_011534799.1:c.1716G>A	XP_011533101.1:p.Gln572=
XM_011534800.1:c.1716G>A	XP_011533102.1:p.Gln572=
XM_011534801.1:c.1716G>A	XP_011533103.1:p.Gln572=
XR_941395.1:n.1925G>A
XM_011534795.3:c.1716G>A	XP_011533097.1:p.Gln572=
XM_011534797.3:c.795G>A	XP_011533099.1:p.Gln265=
XM_011534799.2:c.1716G>A	XP_011533101.1:p.Gln572=
XR_002957338.1:n.1920G>A
XR_002957339.1:n.1920G>A
XR_941395.2:n.1920G>A
NM_006231.4:c.1716G>A MANE Select	NP_006222.2:p.Gln572=