Canonical Allele Identifier: CA351224

Gene: POLE

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676174A>C , CM000674.2:g.132676174A>C	GRCh38
NC_000012.11:g.133252760A>C , CM000674.1:g.133252760A>C	GRCh37
NC_000012.10:g.131762833A>C	NCBI36
NG_033840.1:g.16351T>G , LRG_789:g.16351T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006231.4:c.940T>G MANE Select	NP_006222.2:p.Ser314Ala
ENST00000320574.10:c.940T>G MANE Select	ENSP00000322570.5:p.Ser314Ala
NM_006231.3:c.940T>G , LRG_789t1:c.940T>G	NP_006222.2:p.Ser314Ala
ENST00000320574.9:c.940T>G	ENSP00000322570.5:p.Ser314Ala
ENST00000535270.5:c.859T>G	ENSP00000445753.1:p.Ser287Ala
ENST00000535934.2:n.325T>G
ENST00000537064.5:c.920T>G	ENSP00000442578.1:p.Phe307Cys
ENST00000545015.2:n.967T>G
ENST00000672742.1:c.*434T>G	ENSP00000500279.1:n.*434T>G
ENST00000699982.1:c.786T>G
ENST00000699983.1:c.786T>G
ENST00000699984.1:c.786T>G
XM_011534795.1:c.940T>G	XP_011533097.1:p.Ser314Ala
XM_011534795.3:c.940T>G	XP_011533097.1:p.Ser314Ala
XM_011534796.1:c.811T>G	XP_011533098.1:p.Ser271Ala
XM_011534797.1:c.19T>G	XP_011533099.1:p.Ser7Ala
XM_011534797.3:c.19T>G	XP_011533099.1:p.Ser7Ala
XM_011534799.1:c.940T>G	XP_011533101.1:p.Ser314Ala
XM_011534799.2:c.940T>G	XP_011533101.1:p.Ser314Ala
XM_011534800.1:c.940T>G	XP_011533102.1:p.Ser314Ala
XM_011534801.1:c.940T>G	XP_011533103.1:p.Ser314Ala
XR_002957338.1:n.1144T>G
XR_002957339.1:n.1144T>G
XR_941395.1:n.1149T>G
XR_941395.2:n.1144T>G