Canonical Allele Identifier: CA387359557

Gene: POLE

Linked Data

• ClinVar Variation Id: 2444883
• ClinVar RCV Id: RCV003154593 ; RCV003708733
• dbSNP Id: rs1347133742
• gnomAD v2: 12-133250253-T-C
• MyVariant Identifiers: chr12:g.133250253T>C (hg19) ; chr12:g.132673667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673667T>C , CM000674.2:g.132673667T>C	GRCh38
NC_000012.11:g.133250253T>C , CM000674.1:g.133250253T>C	GRCh37
NC_000012.10:g.131760326T>C	NCBI36
NG_033840.1:g.18858A>G , LRG_789:g.18858A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.1294A>G
ENST00000699982.1:c.1121A>G
ENST00000699983.1:c.1121A>G
ENST00000699984.1:c.1121A>G
ENST00000320574.10:c.1267A>G MANE Select	ENSP00000322570.5:p.Asn423Asp
ENST00000672742.1:c.*769A>G	ENSP00000500279.1:n.*769A>G
ENST00000320574.9:c.1267A>G	ENSP00000322570.5:p.Asn423Asp
ENST00000535270.5:c.1186A>G	ENSP00000445753.1:p.Asn396Asp
ENST00000535934.2:n.1142A>G
ENST00000537064.5:c.*314A>G	ENSP00000442578.1:n.*314A>G
NM_006231.3:c.1267A>G , LRG_789t1:c.1267A>G	NP_006222.2:p.Asn423Asp
XM_011534795.1:c.1267A>G	XP_011533097.1:p.Asn423Asp
XM_011534796.1:c.1138A>G	XP_011533098.1:p.Asn380Asp
XM_011534797.1:c.346A>G	XP_011533099.1:p.Asn116Asp
XM_011534799.1:c.1267A>G	XP_011533101.1:p.Asn423Asp
XM_011534800.1:c.1267A>G	XP_011533102.1:p.Asn423Asp
XM_011534801.1:c.1267A>G	XP_011533103.1:p.Asn423Asp
XR_941395.1:n.1476A>G
XM_011534795.3:c.1267A>G	XP_011533097.1:p.Asn423Asp
XM_011534797.3:c.346A>G	XP_011533099.1:p.Asn116Asp
XM_011534799.2:c.1267A>G	XP_011533101.1:p.Asn423Asp
XR_002957338.1:n.1471A>G
XR_002957339.1:n.1471A>G
XR_941395.2:n.1471A>G
NM_006231.4:c.1267A>G MANE Select	NP_006222.2:p.Asn423Asp