Canonical Allele Identifier: CA6894159

Gene: POLE

Linked Data

• ClinVar Variation Id: 240632
• ClinVar RCV Id: RCV000232551 ; RCV000423707 ; RCV000570065 ; RCV001079650 ; RCV002503914
• dbSNP Id: rs5744758
• ExAC: 12:133253195 G / A
• gnomAD v2: 12-133253195-G-A
• gnomAD v3: 12-132676609-G-A
• gnomAD v4: 12-132676609-G-A
• MyVariant Identifiers: chr12:g.133253195G>A (hg19) ; chr12:g.132676609G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132676609G>A , CM000674.2:g.132676609G>A	GRCh38
NC_000012.11:g.133253195G>A , CM000674.1:g.133253195G>A	GRCh37
NC_000012.10:g.131763268G>A	NCBI36
NG_033840.1:g.15916C>T , LRG_789:g.15916C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545015.2:n.873C>T
ENST00000699982.1:c.692C>T
ENST00000699983.1:c.692C>T
ENST00000699984.1:c.692C>T
ENST00000320574.10:c.846C>T MANE Select	ENSP00000322570.5:p.Pro282=
ENST00000672742.1:c.*340C>T	ENSP00000500279.1:n.*340C>T
ENST00000320574.9:c.846C>T	ENSP00000322570.5:p.Pro282=
ENST00000535270.5:c.765C>T	ENSP00000445753.1:p.Pro255=
ENST00000537064.5:c.846C>T	ENSP00000442578.1:p.Pro282=
NM_006231.3:c.846C>T , LRG_789t1:c.846C>T	NP_006222.2:p.Pro282=
XM_011534795.1:c.846C>T	XP_011533097.1:p.Pro282=
XM_011534796.1:c.717C>T	XP_011533098.1:p.Pro239=
XM_011534797.1:c.-56C>T	XP_011533099.1:n.-56C>T
XM_011534799.1:c.846C>T	XP_011533101.1:p.Pro282=
XM_011534800.1:c.846C>T	XP_011533102.1:p.Pro282=
XM_011534801.1:c.846C>T	XP_011533103.1:p.Pro282=
XR_941395.1:n.1055C>T
XM_011534795.3:c.846C>T	XP_011533097.1:p.Pro282=
XM_011534797.3:c.-56C>T	XP_011533099.1:n.-56C>T
XM_011534799.2:c.846C>T	XP_011533101.1:p.Pro282=
XR_002957338.1:n.1050C>T
XR_002957339.1:n.1050C>T
XR_941395.2:n.1050C>T
NM_006231.4:c.846C>T MANE Select	NP_006222.2:p.Pro282=