Canonical Allele Identifier: CA6893345

Gene: POLE

Linked Data

• ClinVar Variation Id: 380212
• ClinVar RCV Id: RCV000421896 ; RCV000492265 ; RCV000588598 ; RCV001789330 ; RCV001520943 ; RCV001789331
• dbSNP Id: rs5744857
• ExAC: 12:133236000 C / T
• gnomAD v2: 12-133236000-C-T
• gnomAD v3: 12-132659414-C-T
• gnomAD v4: 12-132659414-C-T
• MyVariant Identifiers: chr12:g.133236000C>T (hg19) ; chr12:g.132659414C>T (hg38)
• PubMed: PMID:20091185 ; PMID:21129811

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132659414C>T , CM000674.2:g.132659414C>T	GRCh38
NC_000012.11:g.133236000C>T , CM000674.1:g.133236000C>T	GRCh37
NC_000012.10:g.131746073C>T	NCBI36
NG_033840.1:g.33111G>A , LRG_789:g.33111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544870.6:c.777G>A	ENSP00000479927.2:p.Thr259=
ENST00000699982.1:c.3010G>A
ENST00000699983.1:c.3010G>A
ENST00000699984.1:c.3010G>A
ENST00000320574.10:c.3156G>A MANE Select	ENSP00000322570.5:p.Thr1052=
ENST00000672002.1:c.777G>A	ENSP00000500233.1:p.Thr259=
ENST00000672742.1:c.*2658G>A	ENSP00000500279.1:n.*2658G>A
ENST00000320574.9:c.3156G>A	ENSP00000322570.5:p.Thr1052=
ENST00000535270.5:c.3075G>A	ENSP00000445753.1:p.Thr1025=
ENST00000536445.5:n.1500G>A
ENST00000537064.5:c.*2203G>A	ENSP00000442578.1:n.*2203G>A
NM_006231.3:c.3156G>A , LRG_789t1:c.3156G>A	NP_006222.2:p.Thr1052=
XM_011534795.1:c.3156G>A	XP_011533097.1:p.Thr1052=
XM_011534796.1:c.3027G>A	XP_011533098.1:p.Thr1009=
XM_011534797.1:c.2235G>A	XP_011533099.1:p.Thr745=
XM_011534798.1:c.1818G>A	XP_011533100.1:p.Thr606=
XM_011534799.1:c.3156G>A	XP_011533101.1:p.Thr1052=
XM_011534800.1:c.3156G>A	XP_011533102.1:p.Thr1052=
XM_011534801.1:c.3156G>A	XP_011533103.1:p.Thr1052=
XM_011534802.1:c.144G>A	XP_011533104.1:p.Thr48=
XR_941395.1:n.3365G>A
XM_011534795.3:c.3156G>A	XP_011533097.1:p.Thr1052=
XM_011534797.3:c.2235G>A	XP_011533099.1:p.Thr745=
XM_011534799.2:c.3156G>A	XP_011533101.1:p.Thr1052=
XM_011534802.3:c.144G>A	XP_011533104.1:p.Thr48=
XR_002957338.1:n.3360G>A
XR_002957339.1:n.3360G>A
XR_941395.2:n.3360G>A
NM_006231.4:c.3156G>A MANE Select	NP_006222.2:p.Thr1052=