Canonical Allele Identifier: CA6893953

Gene: POLE

Linked Data

• ClinVar Variation Id: 1619440
• ClinVar RCV Id: RCV003541698
• dbSNP Id: rs750056643
• ExAC: 12:133249739 A / G
• gnomAD v2: 12-133249739-A-G
• gnomAD v4: 12-132673153-A-G
• MyVariant Identifiers: chr12:g.133249739A>G (hg19) ; chr12:g.132673153A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673153A>G , CM000674.2:g.132673153A>G	GRCh38
NC_000012.11:g.133249739A>G , CM000674.1:g.133249739A>G	GRCh37
NC_000012.10:g.131759812A>G	NCBI36
NG_033840.1:g.19372T>C , LRG_789:g.19372T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.181+11T>C
ENST00000545015.2:n.1500+11T>C
ENST00000699982.1:c.1327+11T>C
ENST00000699983.1:c.1327+11T>C
ENST00000699984.1:c.1327+11T>C
ENST00000320574.10:c.1473+11T>C MANE Select	ENSP00000322570.5:n.1473+11T>C
ENST00000672742.1:c.*975+11T>C	ENSP00000500279.1:n.*975+11T>C
ENST00000320574.9:c.1473+11T>C	ENSP00000322570.5:n.1473+11T>C
ENST00000535270.5:c.1392+11T>C	ENSP00000445753.1:n.1392+11T>C
ENST00000535934.2:n.1348+11T>C
ENST00000537064.5:c.*520+11T>C	ENSP00000442578.1:n.*520+11T>C
ENST00000539215.5:n.181+11T>C
ENST00000545015.1:n.70+11T>C
NM_006231.3:c.1473+11T>C , LRG_789t1:c.1473+11T>C	NP_006222.2:n.1473+11T>C
XM_011534795.1:c.1473+11T>C	XP_011533097.1:n.1473+11T>C
XM_011534796.1:c.1344+11T>C	XP_011533098.1:n.1344+11T>C
XM_011534797.1:c.552+11T>C	XP_011533099.1:n.552+11T>C
XM_011534798.1:c.135+11T>C	XP_011533100.1:n.135+11T>C
XM_011534799.1:c.1473+11T>C	XP_011533101.1:n.1473+11T>C
XM_011534800.1:c.1473+11T>C	XP_011533102.1:n.1473+11T>C
XM_011534801.1:c.1473+11T>C	XP_011533103.1:n.1473+11T>C
XR_941395.1:n.1682+11T>C
XM_011534795.3:c.1473+11T>C	XP_011533097.1:n.1473+11T>C
XM_011534797.3:c.552+11T>C	XP_011533099.1:n.552+11T>C
XM_011534799.2:c.1473+11T>C	XP_011533101.1:n.1473+11T>C
XR_002957338.1:n.1677+11T>C
XR_002957339.1:n.1677+11T>C
XR_941395.2:n.1677+11T>C
NM_006231.4:c.1473+11T>C MANE Select	NP_006222.2:n.1473+11T>C