Canonical Allele Identifier: CA387358079

Gene: POLE

Linked Data

• dbSNP Id: rs1012445618
• gnomAD v4: 12-132673173-C-A
• MyVariant Identifiers: chr12:g.133249759C>A (hg19) ; chr12:g.132673173C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673173C>A , CM000674.2:g.132673173C>A	GRCh38
NC_000012.11:g.133249759C>A , CM000674.1:g.133249759C>A	GRCh37
NC_000012.10:g.131759832C>A	NCBI36
NG_033840.1:g.19352G>T , LRG_789:g.19352G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.172G>T
ENST00000545015.2:n.1491G>T
ENST00000699982.1:c.1318G>T
ENST00000699983.1:c.1318G>T
ENST00000699984.1:c.1318G>T
ENST00000320574.10:c.1464G>T MANE Select	ENSP00000322570.5:p.Glu488Asp
ENST00000672742.1:c.*966G>T	ENSP00000500279.1:n.*966G>T
ENST00000320574.9:c.1464G>T	ENSP00000322570.5:p.Glu488Asp
ENST00000535270.5:c.1383G>T	ENSP00000445753.1:p.Glu461Asp
ENST00000535934.2:n.1339G>T
ENST00000537064.5:c.*511G>T	ENSP00000442578.1:n.*511G>T
ENST00000539215.5:n.172G>T
ENST00000545015.1:n.61G>T
NM_006231.3:c.1464G>T , LRG_789t1:c.1464G>T	NP_006222.2:p.Glu488Asp
XM_011534795.1:c.1464G>T	XP_011533097.1:p.Glu488Asp
XM_011534796.1:c.1335G>T	XP_011533098.1:p.Glu445Asp
XM_011534797.1:c.543G>T	XP_011533099.1:p.Glu181Asp
XM_011534798.1:c.126G>T	XP_011533100.1:p.Glu42Asp
XM_011534799.1:c.1464G>T	XP_011533101.1:p.Glu488Asp
XM_011534800.1:c.1464G>T	XP_011533102.1:p.Glu488Asp
XM_011534801.1:c.1464G>T	XP_011533103.1:p.Glu488Asp
XR_941395.1:n.1673G>T
XM_011534795.3:c.1464G>T	XP_011533097.1:p.Glu488Asp
XM_011534797.3:c.543G>T	XP_011533099.1:p.Glu181Asp
XM_011534799.2:c.1464G>T	XP_011533101.1:p.Glu488Asp
XR_002957338.1:n.1668G>T
XR_002957339.1:n.1668G>T
XR_941395.2:n.1668G>T
NM_006231.4:c.1464G>T MANE Select	NP_006222.2:p.Glu488Asp