Canonical Allele Identifier: CA482723581

Gene: POLE

Linked Data

• dbSNP Id: rs1232888774
• MyVariant Identifiers: chr12:g.133253192G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676606G>A , CM000674.2:g.132676606G>A	GRCh38
NC_000012.11:g.133253192G>A , CM000674.1:g.133253192G>A	GRCh37
NC_000012.10:g.131763265G>A	NCBI36
NG_033840.1:g.15919C>T , LRG_789:g.15919C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.876C>T
ENST00000699982.1:c.695C>T
ENST00000699983.1:c.695C>T
ENST00000699984.1:c.695C>T
ENST00000320574.10:c.849C>T MANE Select	ENSP00000322570.5:p.Leu283=
ENST00000672742.1:c.*343C>T	ENSP00000500279.1:n.*343C>T
ENST00000320574.9:c.849C>T	ENSP00000322570.5:p.Leu283=
ENST00000535270.5:c.768C>T	ENSP00000445753.1:p.Leu256=
ENST00000537064.5:c.849C>T	ENSP00000442578.1:p.Leu283=
NM_006231.3:c.849C>T , LRG_789t1:c.849C>T	NP_006222.2:p.Leu283=
XM_011534795.1:c.849C>T	XP_011533097.1:p.Leu283=
XM_011534796.1:c.720C>T	XP_011533098.1:p.Leu240=
XM_011534797.1:c.-53C>T	XP_011533099.1:n.-53C>T
XM_011534799.1:c.849C>T	XP_011533101.1:p.Leu283=
XM_011534800.1:c.849C>T	XP_011533102.1:p.Leu283=
XM_011534801.1:c.849C>T	XP_011533103.1:p.Leu283=
XR_941395.1:n.1058C>T
XM_011534795.3:c.849C>T	XP_011533097.1:p.Leu283=
XM_011534797.3:c.-53C>T	XP_011533099.1:n.-53C>T
XM_011534799.2:c.849C>T	XP_011533101.1:p.Leu283=
XR_002957338.1:n.1053C>T
XR_002957339.1:n.1053C>T
XR_941395.2:n.1053C>T
NM_006231.4:c.849C>T MANE Select	NP_006222.2:p.Leu283=