Canonical Allele Identifier: CA482722655

Gene: POLE

Linked Data

• ClinVar Variation Id: 1115662
• ClinVar RCV Id: RCV003657147
• dbSNP Id: rs2042969575
• MyVariant Identifiers: chr12:g.133249765G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673179G>A , CM000674.2:g.132673179G>A	GRCh38
NC_000012.11:g.133249765G>A , CM000674.1:g.133249765G>A	GRCh37
NC_000012.10:g.131759838G>A	NCBI36
NG_033840.1:g.19346C>T , LRG_789:g.19346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.166C>T
ENST00000545015.2:n.1485C>T
ENST00000699982.1:c.1312C>T
ENST00000699983.1:c.1312C>T
ENST00000699984.1:c.1312C>T
ENST00000320574.10:c.1458C>T MANE Select	ENSP00000322570.5:p.Pro486=
ENST00000672742.1:c.*960C>T	ENSP00000500279.1:n.*960C>T
ENST00000320574.9:c.1458C>T	ENSP00000322570.5:p.Pro486=
ENST00000535270.5:c.1377C>T	ENSP00000445753.1:p.Pro459=
ENST00000535934.2:n.1333C>T
ENST00000537064.5:c.*505C>T	ENSP00000442578.1:n.*505C>T
ENST00000539215.5:n.166C>T
ENST00000545015.1:n.55C>T
NM_006231.3:c.1458C>T , LRG_789t1:c.1458C>T	NP_006222.2:p.Pro486=
XM_011534795.1:c.1458C>T	XP_011533097.1:p.Pro486=
XM_011534796.1:c.1329C>T	XP_011533098.1:p.Pro443=
XM_011534797.1:c.537C>T	XP_011533099.1:p.Pro179=
XM_011534798.1:c.120C>T	XP_011533100.1:p.Pro40=
XM_011534799.1:c.1458C>T	XP_011533101.1:p.Pro486=
XM_011534800.1:c.1458C>T	XP_011533102.1:p.Pro486=
XM_011534801.1:c.1458C>T	XP_011533103.1:p.Pro486=
XR_941395.1:n.1667C>T
XM_011534795.3:c.1458C>T	XP_011533097.1:p.Pro486=
XM_011534797.3:c.537C>T	XP_011533099.1:p.Pro179=
XM_011534799.2:c.1458C>T	XP_011533101.1:p.Pro486=
XR_002957338.1:n.1662C>T
XR_002957339.1:n.1662C>T
XR_941395.2:n.1662C>T
NM_006231.4:c.1458C>T MANE Select	NP_006222.2:p.Pro486=