Canonical Allele Identifier: CA387358248

Gene: POLE

Linked Data

• dbSNP Id: rs1175351457
• MyVariant Identifiers: chr12:g.133249782G>C (hg19) ; chr12:g.132673196G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673196G>C , CM000674.2:g.132673196G>C	GRCh38
NC_000012.11:g.133249782G>C , CM000674.1:g.133249782G>C	GRCh37
NC_000012.10:g.131759855G>C	NCBI36
NG_033840.1:g.19329C>G , LRG_789:g.19329C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.149C>G
ENST00000545015.2:n.1468C>G
ENST00000699982.1:c.1295C>G
ENST00000699983.1:c.1295C>G
ENST00000699984.1:c.1295C>G
ENST00000320574.10:c.1441C>G MANE Select	ENSP00000322570.5:p.Leu481Val
ENST00000672742.1:c.*943C>G	ENSP00000500279.1:n.*943C>G
ENST00000320574.9:c.1441C>G	ENSP00000322570.5:p.Leu481Val
ENST00000535270.5:c.1360C>G	ENSP00000445753.1:p.Leu454Val
ENST00000535934.2:n.1316C>G
ENST00000537064.5:c.*488C>G	ENSP00000442578.1:n.*488C>G
ENST00000539215.5:n.149C>G
ENST00000545015.1:n.38C>G
NM_006231.3:c.1441C>G , LRG_789t1:c.1441C>G	NP_006222.2:p.Leu481Val
XM_011534795.1:c.1441C>G	XP_011533097.1:p.Leu481Val
XM_011534796.1:c.1312C>G	XP_011533098.1:p.Leu438Val
XM_011534797.1:c.520C>G	XP_011533099.1:p.Leu174Val
XM_011534798.1:c.103C>G	XP_011533100.1:p.Leu35Val
XM_011534799.1:c.1441C>G	XP_011533101.1:p.Leu481Val
XM_011534800.1:c.1441C>G	XP_011533102.1:p.Leu481Val
XM_011534801.1:c.1441C>G	XP_011533103.1:p.Leu481Val
XR_941395.1:n.1650C>G
XM_011534795.3:c.1441C>G	XP_011533097.1:p.Leu481Val
XM_011534797.3:c.520C>G	XP_011533099.1:p.Leu174Val
XM_011534799.2:c.1441C>G	XP_011533101.1:p.Leu481Val
XR_002957338.1:n.1645C>G
XR_002957339.1:n.1645C>G
XR_941395.2:n.1645C>G
NM_006231.4:c.1441C>G MANE Select	NP_006222.2:p.Leu481Val