Canonical Allele Identifier: CA387377268

Gene: POLE

Linked Data

• ClinVar Variation Id: 486964
• ClinVar RCV Id: RCV000572651 ; RCV001284219 ; RCV002291281
• dbSNP Id: rs1301816028
• gnomAD v3: 12-132642318-G-A
• gnomAD v4: 12-132642318-G-A
• MyVariant Identifiers: chr12:g.133218904G>A (hg19) ; chr12:g.132642318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132642318G>A , CM000674.2:g.132642318G>A	GRCh38
NC_000012.11:g.133218904G>A , CM000674.1:g.133218904G>A	GRCh37
NC_000012.10:g.131728977G>A	NCBI36
NG_033840.1:g.50207C>T , LRG_789:g.50207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.2576-3C>T
ENST00000544870.6:c.2705C>T	ENSP00000479927.2:n.2705C>T
ENST00000699981.1:n.2686C>T
ENST00000699982.1:c.4886C>T
ENST00000699983.1:c.5590C>T
ENST00000699984.1:c.4886C>T
ENST00000320574.10:c.5032C>T MANE Select	ENSP00000322570.5:p.Gln1678Ter
ENST00000672002.1:c.2705C>T	ENSP00000500233.1:n.2705C>T
ENST00000672742.1:c.*5238C>T	ENSP00000500279.1:n.*5238C>T
ENST00000320574.9:c.5032C>T	ENSP00000322570.5:p.Gln1678Ter
ENST00000535270.5:c.4951C>T	ENSP00000445753.1:p.Gln1651Ter
ENST00000537064.5:c.*4783C>T	ENSP00000442578.1:n.*4783C>T
NM_006231.3:c.5032C>T , LRG_789t1:c.5032C>T	NP_006222.2:p.Gln1678Ter
XM_011534795.1:c.5032C>T	XP_011533097.1:p.Gln1678Ter
XM_011534796.1:c.4903C>T	XP_011533098.1:p.Gln1635Ter
XM_011534797.1:c.4111C>T	XP_011533099.1:p.Gln1371Ter
XM_011534798.1:c.3694C>T	XP_011533100.1:p.Gln1232Ter
XM_011534799.1:c.5032C>T	XP_011533101.1:p.Gln1678Ter
XM_011534800.1:c.5032C>T	XP_011533102.1:p.Gln1678Ter
XM_011534802.1:c.2020C>T	XP_011533104.1:p.Gln674Ter
XM_011534795.3:c.5032C>T	XP_011533097.1:p.Gln1678Ter
XM_011534797.3:c.4111C>T	XP_011533099.1:p.Gln1371Ter
XM_011534799.2:c.5032C>T	XP_011533101.1:p.Gln1678Ter
XM_011534802.3:c.2020C>T	XP_011533104.1:p.Gln674Ter
XR_002957338.1:n.5236C>T
XR_002957339.1:n.5236C>T
XR_941395.2:n.5285C>T
NM_006231.4:c.5032C>T MANE Select	NP_006222.2:p.Gln1678Ter