Canonical Allele Identifier: CA16044157

Gene: POLE

Linked Data

• ClinVar Variation Id: 235886
• ClinVar RCV Id: RCV003539821
• dbSNP Id: rs980578884
• gnomAD v2: 12-133249803-C-T
• gnomAD v3: 12-132673217-C-T
• gnomAD v4: 12-132673217-C-T
• COSMIC: COSM4040381 ; COSM4040382
• MyVariant Identifiers: chr12:g.133249803C>T (hg19) ; chr12:g.132673217C>T (hg38)
• PubMed: PMID:28423643

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673217C>T , CM000674.2:g.132673217C>T	GRCh38
NC_000012.11:g.133249803C>T , CM000674.1:g.133249803C>T	GRCh37
NC_000012.10:g.131759876C>T	NCBI36
NG_033840.1:g.19308G>A , LRG_789:g.19308G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539215.6:c.128G>A
ENST00000545015.2:n.1447G>A
ENST00000699982.1:c.1274G>A
ENST00000699983.1:c.1274G>A
ENST00000699984.1:c.1274G>A
ENST00000320574.10:c.1420G>A MANE Select	ENSP00000322570.5:p.Val474Ile
ENST00000672742.1:c.*922G>A	ENSP00000500279.1:n.*922G>A
ENST00000320574.9:c.1420G>A	ENSP00000322570.5:p.Val474Ile
ENST00000535270.5:c.1339G>A	ENSP00000445753.1:p.Val447Ile
ENST00000535934.2:n.1295G>A
ENST00000537064.5:c.*467G>A	ENSP00000442578.1:n.*467G>A
ENST00000539215.5:n.128G>A
ENST00000545015.1:n.17G>A
NM_006231.3:c.1420G>A , LRG_789t1:c.1420G>A	NP_006222.2:p.Val474Ile
XM_011534795.1:c.1420G>A	XP_011533097.1:p.Val474Ile
XM_011534796.1:c.1291G>A	XP_011533098.1:p.Val431Ile
XM_011534797.1:c.499G>A	XP_011533099.1:p.Val167Ile
XM_011534798.1:c.82G>A	XP_011533100.1:p.Val28Ile
XM_011534799.1:c.1420G>A	XP_011533101.1:p.Val474Ile
XM_011534800.1:c.1420G>A	XP_011533102.1:p.Val474Ile
XM_011534801.1:c.1420G>A	XP_011533103.1:p.Val474Ile
XR_941395.1:n.1629G>A
XM_011534795.3:c.1420G>A	XP_011533097.1:p.Val474Ile
XM_011534797.3:c.499G>A	XP_011533099.1:p.Val167Ile
XM_011534799.2:c.1420G>A	XP_011533101.1:p.Val474Ile
XR_002957338.1:n.1624G>A
XR_002957339.1:n.1624G>A
XR_941395.2:n.1624G>A
NM_006231.4:c.1420G>A MANE Select	NP_006222.2:p.Val474Ile