Canonical Allele Identifier: CA16602934
Gene: POLE HGNC NCBI

Linked Data

ClinVar Variation Id: 376502
ClinVar RCV Id: RCV000417898 RCV000428131 RCV000428894 RCV000438366 RCV000439138
dbSNP Id: rs1057519943
MyVariant Identifiers: chr12:g.133253184G>T (hg19) chr12:g.132676598G>T (hg38)
PubMed: PMID:26619011
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000545015.2:n.884C>A
ENST00000699982.1:c.703C>A
ENST00000699983.1:c.703C>A
ENST00000699984.1:c.703C>A
ENST00000320574.10:c.857C>A MANE Select ENSP00000322570.5:p.Pro286His
ENST00000672742.1:c.*351C>A ENSP00000500279.1:n.*351C>A
ENST00000320574.9:c.857C>A ENSP00000322570.5:p.Pro286His
ENST00000535270.5:c.776C>A ENSP00000445753.1:p.Pro259His
ENST00000537064.5:c.857C>A ENSP00000442578.1:p.Pro286His
NM_006231.3:c.857C>A , LRG_789t1:c.857C>A NP_006222.2:p.Pro286His
XM_011534795.1:c.857C>A XP_011533097.1:p.Pro286His
XM_011534796.1:c.728C>A XP_011533098.1:p.Pro243His
XM_011534797.1:c.-45C>A XP_011533099.1:n.-45C>A
XM_011534799.1:c.857C>A XP_011533101.1:p.Pro286His
XM_011534800.1:c.857C>A XP_011533102.1:p.Pro286His
XM_011534801.1:c.857C>A XP_011533103.1:p.Pro286His
XR_941395.1:n.1066C>A
XM_011534795.3:c.857C>A XP_011533097.1:p.Pro286His
XM_011534797.3:c.-45C>A XP_011533099.1:n.-45C>A
XM_011534799.2:c.857C>A XP_011533101.1:p.Pro286His
XR_002957338.1:n.1061C>A
XR_002957339.1:n.1061C>A
XR_941395.2:n.1061C>A
NM_006231.4:c.857C>A MANE Select NP_006222.2:p.Pro286His
Search 100 bp 5'
Search 100 bp 3'