Canonical Allele Identifier: CA387359544

Gene: POLE

Linked Data

• MyVariant Identifiers: chr12:g.133250251A>C (hg19) ; chr12:g.132673665A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673665A>C , CM000674.2:g.132673665A>C	GRCh38
NC_000012.11:g.133250251A>C , CM000674.1:g.133250251A>C	GRCh37
NC_000012.10:g.131760324A>C	NCBI36
NG_033840.1:g.18860T>G , LRG_789:g.18860T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.1296T>G
ENST00000699982.1:c.1123T>G
ENST00000699983.1:c.1123T>G
ENST00000699984.1:c.1123T>G
ENST00000320574.10:c.1269T>G MANE Select	ENSP00000322570.5:p.Asn423Lys
ENST00000672742.1:c.*771T>G	ENSP00000500279.1:n.*771T>G
ENST00000320574.9:c.1269T>G	ENSP00000322570.5:p.Asn423Lys
ENST00000535270.5:c.1188T>G	ENSP00000445753.1:p.Asn396Lys
ENST00000535934.2:n.1144T>G
ENST00000537064.5:c.*316T>G	ENSP00000442578.1:n.*316T>G
NM_006231.3:c.1269T>G , LRG_789t1:c.1269T>G	NP_006222.2:p.Asn423Lys
XM_011534795.1:c.1269T>G	XP_011533097.1:p.Asn423Lys
XM_011534796.1:c.1140T>G	XP_011533098.1:p.Asn380Lys
XM_011534797.1:c.348T>G	XP_011533099.1:p.Asn116Lys
XM_011534799.1:c.1269T>G	XP_011533101.1:p.Asn423Lys
XM_011534800.1:c.1269T>G	XP_011533102.1:p.Asn423Lys
XM_011534801.1:c.1269T>G	XP_011533103.1:p.Asn423Lys
XR_941395.1:n.1478T>G
XM_011534795.3:c.1269T>G	XP_011533097.1:p.Asn423Lys
XM_011534797.3:c.348T>G	XP_011533099.1:p.Asn116Lys
XM_011534799.2:c.1269T>G	XP_011533101.1:p.Asn423Lys
XR_002957338.1:n.1473T>G
XR_002957339.1:n.1473T>G
XR_941395.2:n.1473T>G
NM_006231.4:c.1269T>G MANE Select	NP_006222.2:p.Asn423Lys