Canonical Allele Identifier: CA387358102

Gene: POLE

Linked Data

• ClinVar Variation Id: 1773168
• ClinVar RCV Id: RCV002396742
• dbSNP Id: rs1367501021
• gnomAD v3: 12-132673176-C-T
• gnomAD v4: 12-132673176-C-T
• MyVariant Identifiers: chr12:g.133249762C>T (hg19) ; chr12:g.132673176C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673176C>T , CM000674.2:g.132673176C>T	GRCh38
NC_000012.11:g.133249762C>T , CM000674.1:g.133249762C>T	GRCh37
NC_000012.10:g.131759835C>T	NCBI36
NG_033840.1:g.19349G>A , LRG_789:g.19349G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.169G>A
ENST00000545015.2:n.1488G>A
ENST00000699982.1:c.1315G>A
ENST00000699983.1:c.1315G>A
ENST00000699984.1:c.1315G>A
ENST00000320574.10:c.1461G>A MANE Select	ENSP00000322570.5:p.Met487Ile
ENST00000672742.1:c.*963G>A	ENSP00000500279.1:n.*963G>A
ENST00000320574.9:c.1461G>A	ENSP00000322570.5:p.Met487Ile
ENST00000535270.5:c.1380G>A	ENSP00000445753.1:p.Met460Ile
ENST00000535934.2:n.1336G>A
ENST00000537064.5:c.*508G>A	ENSP00000442578.1:n.*508G>A
ENST00000539215.5:n.169G>A
ENST00000545015.1:n.58G>A
NM_006231.3:c.1461G>A , LRG_789t1:c.1461G>A	NP_006222.2:p.Met487Ile
XM_011534795.1:c.1461G>A	XP_011533097.1:p.Met487Ile
XM_011534796.1:c.1332G>A	XP_011533098.1:p.Met444Ile
XM_011534797.1:c.540G>A	XP_011533099.1:p.Met180Ile
XM_011534798.1:c.123G>A	XP_011533100.1:p.Met41Ile
XM_011534799.1:c.1461G>A	XP_011533101.1:p.Met487Ile
XM_011534800.1:c.1461G>A	XP_011533102.1:p.Met487Ile
XM_011534801.1:c.1461G>A	XP_011533103.1:p.Met487Ile
XR_941395.1:n.1670G>A
XM_011534795.3:c.1461G>A	XP_011533097.1:p.Met487Ile
XM_011534797.3:c.540G>A	XP_011533099.1:p.Met180Ile
XM_011534799.2:c.1461G>A	XP_011533101.1:p.Met487Ile
XR_002957338.1:n.1665G>A
XR_002957339.1:n.1665G>A
XR_941395.2:n.1665G>A
NM_006231.4:c.1461G>A MANE Select	NP_006222.2:p.Met487Ile