Canonical Allele Identifier: CA6891960
Gene: POLE HGNC NCBI

Linked Data

ClinVar Variation Id: 240620
dbSNP Id: rs200911338

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132624762C>T , CM000674.2:g.132624762C>T GRCh38
NC_000012.11:g.133201348C>T , CM000674.1:g.133201348C>T GRCh37
NC_000012.10:g.131711421C>T NCBI36
NG_033840.1:g.67763G>A , LRG_789:g.67763G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000434528.5:c.2334G>A ENSP00000500921.1:n.2334G>A
ENST00000544870.6:c.4449G>A ENSP00000479927.2:n.4449G>A
ENST00000699981.1:n.4450G>A
ENST00000699982.1:c.6650G>A
ENST00000699983.1:c.7354G>A
ENST00000699984.1:c.6582G>A
ENST00000320574.10:c.6796G>A MANE Select ENSP00000322570.5:p.Gly2266Ser
ENST00000434528.4:c.2334G>A ENSP00000500921.1:n.2334G>A
ENST00000672002.1:c.4469G>A ENSP00000500233.1:n.4469G>A
ENST00000672742.1:c.*7002G>A ENSP00000500279.1:n.*7002G>A
ENST00000320574.9:c.6796G>A ENSP00000322570.5:p.Gly2266Ser
ENST00000534922.5:n.1453G>A
ENST00000535270.5:c.6715G>A ENSP00000445753.1:p.Gly2239Ser
ENST00000537064.5:c.*6547G>A ENSP00000442578.1:n.*6547G>A
ENST00000541627.2:n.1096G>A
ENST00000544692.5:n.2165G>A
NM_006231.3:c.6796G>A , LRG_789t1:c.6796G>A NP_006222.2:p.Gly2266Ser
XR_002957339.1:n.7688G>A
NM_006231.4:c.6796G>A MANE Select NP_006222.2:p.Gly2266Ser