Canonical Allele Identifier: CA387358192

Gene: POLE

Linked Data

• ClinVar Variation Id: 819244
• ClinVar RCV Id: RCV001011635 ; RCV003657493
• dbSNP Id: rs1593072208
• gnomAD v4: 12-132673189-G-A
• MyVariant Identifiers: chr12:g.133249775G>A (hg19) ; chr12:g.132673189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673189G>A , CM000674.2:g.132673189G>A	GRCh38
NC_000012.11:g.133249775G>A , CM000674.1:g.133249775G>A	GRCh37
NC_000012.10:g.131759848G>A	NCBI36
NG_033840.1:g.19336C>T , LRG_789:g.19336C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.156C>T
ENST00000545015.2:n.1475C>T
ENST00000699982.1:c.1302C>T
ENST00000699983.1:c.1302C>T
ENST00000699984.1:c.1302C>T
ENST00000320574.10:c.1448C>T MANE Select	ENSP00000322570.5:p.Thr483Ile
ENST00000672742.1:c.*950C>T	ENSP00000500279.1:n.*950C>T
ENST00000320574.9:c.1448C>T	ENSP00000322570.5:p.Thr483Ile
ENST00000535270.5:c.1367C>T	ENSP00000445753.1:p.Thr456Ile
ENST00000535934.2:n.1323C>T
ENST00000537064.5:c.*495C>T	ENSP00000442578.1:n.*495C>T
ENST00000539215.5:n.156C>T
ENST00000545015.1:n.45C>T
NM_006231.3:c.1448C>T , LRG_789t1:c.1448C>T	NP_006222.2:p.Thr483Ile
XM_011534795.1:c.1448C>T	XP_011533097.1:p.Thr483Ile
XM_011534796.1:c.1319C>T	XP_011533098.1:p.Thr440Ile
XM_011534797.1:c.527C>T	XP_011533099.1:p.Thr176Ile
XM_011534798.1:c.110C>T	XP_011533100.1:p.Thr37Ile
XM_011534799.1:c.1448C>T	XP_011533101.1:p.Thr483Ile
XM_011534800.1:c.1448C>T	XP_011533102.1:p.Thr483Ile
XM_011534801.1:c.1448C>T	XP_011533103.1:p.Thr483Ile
XR_941395.1:n.1657C>T
XM_011534795.3:c.1448C>T	XP_011533097.1:p.Thr483Ile
XM_011534797.3:c.527C>T	XP_011533099.1:p.Thr176Ile
XM_011534799.2:c.1448C>T	XP_011533101.1:p.Thr483Ile
XR_002957338.1:n.1652C>T
XR_002957339.1:n.1652C>T
XR_941395.2:n.1652C>T
NM_006231.4:c.1448C>T MANE Select	NP_006222.2:p.Thr483Ile