Canonical Allele Identifier: CA130722

Gene: POLE

Linked Data

• ClinVar Variation Id: 40046
• ClinVar RCV Id: RCV000033144 ; RCV000484685 ; RCV000570294 ; RCV000762892 ; RCV001420787
• dbSNP Id: rs483352909
• gnomAD v4: 12-132673664-G-C
• COSMIC: COSM937328 ; COSM937329
• MyVariant Identifiers: chr12:g.133250250G>C (hg19) ; chr12:g.132673664G>C (hg38)
• PubMed: PMID:8679562 ; PMID:16699561 ; PMID:23263490 ; PMID:24501277 ; PMID:25370038 ; PMID:25529843

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673664G>C , CM000674.2:g.132673664G>C	GRCh38
NC_000012.11:g.133250250G>C , CM000674.1:g.133250250G>C	GRCh37
NC_000012.10:g.131760323G>C	NCBI36
NG_033840.1:g.18861C>G , LRG_789:g.18861C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.1297C>G
ENST00000699982.1:c.1124C>G
ENST00000699983.1:c.1124C>G
ENST00000699984.1:c.1124C>G
ENST00000320574.10:c.1270C>G MANE Select	ENSP00000322570.5:p.Leu424Val
ENST00000672742.1:c.*772C>G	ENSP00000500279.1:n.*772C>G
ENST00000320574.9:c.1270C>G	ENSP00000322570.5:p.Leu424Val
ENST00000535270.5:c.1189C>G	ENSP00000445753.1:p.Leu397Val
ENST00000535934.2:n.1145C>G
ENST00000537064.5:c.*317C>G	ENSP00000442578.1:n.*317C>G
NM_006231.3:c.1270C>G , LRG_789t1:c.1270C>G	NP_006222.2:p.Leu424Val
XM_011534795.1:c.1270C>G	XP_011533097.1:p.Leu424Val
XM_011534796.1:c.1141C>G	XP_011533098.1:p.Leu381Val
XM_011534797.1:c.349C>G	XP_011533099.1:p.Leu117Val
XM_011534799.1:c.1270C>G	XP_011533101.1:p.Leu424Val
XM_011534800.1:c.1270C>G	XP_011533102.1:p.Leu424Val
XM_011534801.1:c.1270C>G	XP_011533103.1:p.Leu424Val
XR_941395.1:n.1479C>G
XM_011534795.3:c.1270C>G	XP_011533097.1:p.Leu424Val
XM_011534797.3:c.349C>G	XP_011533099.1:p.Leu117Val
XM_011534799.2:c.1270C>G	XP_011533101.1:p.Leu424Val
XR_002957338.1:n.1474C>G
XR_002957339.1:n.1474C>G
XR_941395.2:n.1474C>G
NM_006231.4:c.1270C>G MANE Select	NP_006222.2:p.Leu424Val