Canonical Allele Identifier: CA16602932

Gene: POLE

Linked Data

• ClinVar Variation Id: 376500
• ClinVar RCV Id: RCV002480276 ; RCV003766182
• dbSNP Id: rs1057519943
• COSMIC: COSM937332 ; COSM937333
• MyVariant Identifiers: chr12:g.133253184G>C (hg19) ; chr12:g.132676598G>C (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676598G>C , CM000674.2:g.132676598G>C	GRCh38
NC_000012.11:g.133253184G>C , CM000674.1:g.133253184G>C	GRCh37
NC_000012.10:g.131763257G>C	NCBI36
NG_033840.1:g.15927C>G , LRG_789:g.15927C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.884C>G
ENST00000699982.1:c.703C>G
ENST00000699983.1:c.703C>G
ENST00000699984.1:c.703C>G
ENST00000320574.10:c.857C>G MANE Select	ENSP00000322570.5:p.Pro286Arg
ENST00000672742.1:c.*351C>G	ENSP00000500279.1:n.*351C>G
ENST00000320574.9:c.857C>G	ENSP00000322570.5:p.Pro286Arg
ENST00000535270.5:c.776C>G	ENSP00000445753.1:p.Pro259Arg
ENST00000537064.5:c.857C>G	ENSP00000442578.1:p.Pro286Arg
NM_006231.3:c.857C>G , LRG_789t1:c.857C>G	NP_006222.2:p.Pro286Arg
XM_011534795.1:c.857C>G	XP_011533097.1:p.Pro286Arg
XM_011534796.1:c.728C>G	XP_011533098.1:p.Pro243Arg
XM_011534797.1:c.-45C>G	XP_011533099.1:n.-45C>G
XM_011534799.1:c.857C>G	XP_011533101.1:p.Pro286Arg
XM_011534800.1:c.857C>G	XP_011533102.1:p.Pro286Arg
XM_011534801.1:c.857C>G	XP_011533103.1:p.Pro286Arg
XR_941395.1:n.1066C>G
XM_011534795.3:c.857C>G	XP_011533097.1:p.Pro286Arg
XM_011534797.3:c.-45C>G	XP_011533099.1:n.-45C>G
XM_011534799.2:c.857C>G	XP_011533101.1:p.Pro286Arg
XR_002957338.1:n.1061C>G
XR_002957339.1:n.1061C>G
XR_941395.2:n.1061C>G
NM_006231.4:c.857C>G MANE Select	NP_006222.2:p.Pro286Arg