Canonical Allele Identifier: CA387358348

Gene: POLE

Linked Data

• ClinVar Variation Id: 2477257
• ClinVar RCV Id: RCV003203705
• dbSNP Id: rs2135996157
• gnomAD v4: 12-132673208-A-G
• MyVariant Identifiers: chr12:g.133249794A>G (hg19) ; chr12:g.132673208A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673208A>G , CM000674.2:g.132673208A>G	GRCh38
NC_000012.11:g.133249794A>G , CM000674.1:g.133249794A>G	GRCh37
NC_000012.10:g.131759867A>G	NCBI36
NG_033840.1:g.19317T>C , LRG_789:g.19317T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.137T>C
ENST00000545015.2:n.1456T>C
ENST00000699982.1:c.1283T>C
ENST00000699983.1:c.1283T>C
ENST00000699984.1:c.1283T>C
ENST00000320574.10:c.1429T>C MANE Select	ENSP00000322570.5:p.Phe477Leu
ENST00000672742.1:c.*931T>C	ENSP00000500279.1:n.*931T>C
ENST00000320574.9:c.1429T>C	ENSP00000322570.5:p.Phe477Leu
ENST00000535270.5:c.1348T>C	ENSP00000445753.1:p.Phe450Leu
ENST00000535934.2:n.1304T>C
ENST00000537064.5:c.*476T>C	ENSP00000442578.1:n.*476T>C
ENST00000539215.5:n.137T>C
ENST00000545015.1:n.26T>C
NM_006231.3:c.1429T>C , LRG_789t1:c.1429T>C	NP_006222.2:p.Phe477Leu
XM_011534795.1:c.1429T>C	XP_011533097.1:p.Phe477Leu
XM_011534796.1:c.1300T>C	XP_011533098.1:p.Phe434Leu
XM_011534797.1:c.508T>C	XP_011533099.1:p.Phe170Leu
XM_011534798.1:c.91T>C	XP_011533100.1:p.Phe31Leu
XM_011534799.1:c.1429T>C	XP_011533101.1:p.Phe477Leu
XM_011534800.1:c.1429T>C	XP_011533102.1:p.Phe477Leu
XM_011534801.1:c.1429T>C	XP_011533103.1:p.Phe477Leu
XR_941395.1:n.1638T>C
XM_011534795.3:c.1429T>C	XP_011533097.1:p.Phe477Leu
XM_011534797.3:c.508T>C	XP_011533099.1:p.Phe170Leu
XM_011534799.2:c.1429T>C	XP_011533101.1:p.Phe477Leu
XR_002957338.1:n.1633T>C
XR_002957339.1:n.1633T>C
XR_941395.2:n.1633T>C
NM_006231.4:c.1429T>C MANE Select	NP_006222.2:p.Phe477Leu