Canonical Allele Identifier: CA482722708

Gene: POLE

Linked Data

• ClinVar Variation Id: 3225388
• ClinVar RCV Id: RCV004524035
• dbSNP Id: rs2135996843
• MyVariant Identifiers: chr12:g.133249843C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673257C>T , CM000674.2:g.132673257C>T	GRCh38
NC_000012.11:g.133249843C>T , CM000674.1:g.133249843C>T	GRCh37
NC_000012.10:g.131759916C>T	NCBI36
NG_033840.1:g.19268G>A , LRG_789:g.19268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.88G>A
ENST00000545015.2:n.1407G>A
ENST00000699982.1:c.1234G>A
ENST00000699983.1:c.1234G>A
ENST00000699984.1:c.1234G>A
ENST00000320574.10:c.1380G>A MANE Select	ENSP00000322570.5:p.Val460=
ENST00000672742.1:c.*882G>A	ENSP00000500279.1:n.*882G>A
ENST00000320574.9:c.1380G>A	ENSP00000322570.5:p.Val460=
ENST00000535270.5:c.1299G>A	ENSP00000445753.1:p.Val433=
ENST00000535934.2:n.1255G>A
ENST00000537064.5:c.*427G>A	ENSP00000442578.1:n.*427G>A
ENST00000539215.5:n.88G>A
NM_006231.3:c.1380G>A , LRG_789t1:c.1380G>A	NP_006222.2:p.Val460=
XM_011534795.1:c.1380G>A	XP_011533097.1:p.Val460=
XM_011534796.1:c.1251G>A	XP_011533098.1:p.Val417=
XM_011534797.1:c.459G>A	XP_011533099.1:p.Val153=
XM_011534798.1:c.42G>A	XP_011533100.1:p.Val14=
XM_011534799.1:c.1380G>A	XP_011533101.1:p.Val460=
XM_011534800.1:c.1380G>A	XP_011533102.1:p.Val460=
XM_011534801.1:c.1380G>A	XP_011533103.1:p.Val460=
XR_941395.1:n.1589G>A
XM_011534795.3:c.1380G>A	XP_011533097.1:p.Val460=
XM_011534797.3:c.459G>A	XP_011533099.1:p.Val153=
XM_011534799.2:c.1380G>A	XP_011533101.1:p.Val460=
XR_002957338.1:n.1584G>A
XR_002957339.1:n.1584G>A
XR_941395.2:n.1584G>A
NM_006231.4:c.1380G>A MANE Select	NP_006222.2:p.Val460=