Canonical Allele Identifier: CA482722817

Gene: POLE

Linked Data

• dbSNP Id: rs2136000359
• MyVariant Identifiers: chr12:g.133250257A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673671A>G , CM000674.2:g.132673671A>G	GRCh38
NC_000012.11:g.133250257A>G , CM000674.1:g.133250257A>G	GRCh37
NC_000012.10:g.131760330A>G	NCBI36
NG_033840.1:g.18854T>C , LRG_789:g.18854T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.1290T>C
ENST00000699982.1:c.1117T>C
ENST00000699983.1:c.1117T>C
ENST00000699984.1:c.1117T>C
ENST00000320574.10:c.1263T>C MANE Select	ENSP00000322570.5:p.Ser421=
ENST00000672742.1:c.*765T>C	ENSP00000500279.1:n.*765T>C
ENST00000320574.9:c.1263T>C	ENSP00000322570.5:p.Ser421=
ENST00000535270.5:c.1182T>C	ENSP00000445753.1:p.Ser394=
ENST00000535934.2:n.1138T>C
ENST00000537064.5:c.*310T>C	ENSP00000442578.1:n.*310T>C
NM_006231.3:c.1263T>C , LRG_789t1:c.1263T>C	NP_006222.2:p.Ser421=
XM_011534795.1:c.1263T>C	XP_011533097.1:p.Ser421=
XM_011534796.1:c.1134T>C	XP_011533098.1:p.Ser378=
XM_011534797.1:c.342T>C	XP_011533099.1:p.Ser114=
XM_011534799.1:c.1263T>C	XP_011533101.1:p.Ser421=
XM_011534800.1:c.1263T>C	XP_011533102.1:p.Ser421=
XM_011534801.1:c.1263T>C	XP_011533103.1:p.Ser421=
XR_941395.1:n.1472T>C
XM_011534795.3:c.1263T>C	XP_011533097.1:p.Ser421=
XM_011534797.3:c.342T>C	XP_011533099.1:p.Ser114=
XM_011534799.2:c.1263T>C	XP_011533101.1:p.Ser421=
XR_002957338.1:n.1467T>C
XR_002957339.1:n.1467T>C
XR_941395.2:n.1467T>C
NM_006231.4:c.1263T>C MANE Select	NP_006222.2:p.Ser421=