Canonical Allele Identifier: CA16613754

Gene: POLE

Linked Data

• ClinVar Variation Id: 405636
• ClinVar RCV Id: RCV000470328 ; RCV001563277
• dbSNP Id: rs1060500788
• gnomAD v3: 12-132687273-C-T
• gnomAD v4: 12-132687273-C-T
• MyVariant Identifiers: chr12:g.133263859C>T (hg19) ; chr12:g.132687273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132687273C>T , CM000674.2:g.132687273C>T	GRCh38
NC_000012.11:g.133263859C>T , CM000674.1:g.133263859C>T	GRCh37
NC_000012.10:g.131773932C>T	NCBI36
NG_033840.1:g.5252G>A , LRG_789:g.5252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.70G>A
ENST00000699985.1:n.104G>A
ENST00000320574.10:c.43G>A MANE Select	ENSP00000322570.5:p.Ala15Thr
ENST00000672742.1:c.43G>A	ENSP00000500279.1:p.Ala15Thr
ENST00000320574.9:c.43G>A	ENSP00000322570.5:p.Ala15Thr
ENST00000535270.5:c.43G>A	ENSP00000445753.1:p.Ala15Thr
ENST00000537064.5:c.43G>A	ENSP00000442578.1:p.Ala15Thr
ENST00000539357.1:n.93G>A
NM_006231.3:c.43G>A , LRG_789t1:c.43G>A	NP_006222.2:p.Ala15Thr
XM_011534795.1:c.43G>A	XP_011533097.1:p.Ala15Thr
XM_011534799.1:c.43G>A	XP_011533101.1:p.Ala15Thr
XM_011534800.1:c.43G>A	XP_011533102.1:p.Ala15Thr
XM_011534801.1:c.43G>A	XP_011533103.1:p.Ala15Thr
XR_941395.1:n.252G>A
XM_011534795.3:c.43G>A	XP_011533097.1:p.Ala15Thr
XM_011534799.2:c.43G>A	XP_011533101.1:p.Ala15Thr
XR_002957338.1:n.247G>A
XR_002957339.1:n.247G>A
XR_941395.2:n.247G>A
NM_006231.4:c.43G>A MANE Select	NP_006222.2:p.Ala15Thr