Canonical Allele Identifier: CA6893968

Gene: POLE

Linked Data

• ClinVar Variation Id: 1054055
• ClinVar RCV Id: RCV001362494 ; RCV002395805 ; RCV003771083
• dbSNP Id: rs771526654
• ExAC: 12:133249830 C / A
• gnomAD v2: 12-133249830-C-A
• gnomAD v4: 12-132673244-C-A
• MyVariant Identifiers: chr12:g.133249830C>A (hg19) ; chr12:g.132673244C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673244C>A , CM000674.2:g.132673244C>A	GRCh38
NC_000012.11:g.133249830C>A , CM000674.1:g.133249830C>A	GRCh37
NC_000012.10:g.131759903C>A	NCBI36
NG_033840.1:g.19281G>T , LRG_789:g.19281G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.101G>T
ENST00000545015.2:n.1420G>T
ENST00000699982.1:c.1247G>T
ENST00000699983.1:c.1247G>T
ENST00000699984.1:c.1247G>T
ENST00000320574.10:c.1393G>T MANE Select	ENSP00000322570.5:p.Ala465Ser
ENST00000672742.1:c.*895G>T	ENSP00000500279.1:n.*895G>T
ENST00000320574.9:c.1393G>T	ENSP00000322570.5:p.Ala465Ser
ENST00000535270.5:c.1312G>T	ENSP00000445753.1:p.Ala438Ser
ENST00000535934.2:n.1268G>T
ENST00000537064.5:c.*440G>T	ENSP00000442578.1:n.*440G>T
ENST00000539215.5:n.101G>T
NM_006231.3:c.1393G>T , LRG_789t1:c.1393G>T	NP_006222.2:p.Ala465Ser
XM_011534795.1:c.1393G>T	XP_011533097.1:p.Ala465Ser
XM_011534796.1:c.1264G>T	XP_011533098.1:p.Ala422Ser
XM_011534797.1:c.472G>T	XP_011533099.1:p.Ala158Ser
XM_011534798.1:c.55G>T	XP_011533100.1:p.Ala19Ser
XM_011534799.1:c.1393G>T	XP_011533101.1:p.Ala465Ser
XM_011534800.1:c.1393G>T	XP_011533102.1:p.Ala465Ser
XM_011534801.1:c.1393G>T	XP_011533103.1:p.Ala465Ser
XR_941395.1:n.1602G>T
XM_011534795.3:c.1393G>T	XP_011533097.1:p.Ala465Ser
XM_011534797.3:c.472G>T	XP_011533099.1:p.Ala158Ser
XM_011534799.2:c.1393G>T	XP_011533101.1:p.Ala465Ser
XR_002957338.1:n.1597G>T
XR_002957339.1:n.1597G>T
XR_941395.2:n.1597G>T
NM_006231.4:c.1393G>T MANE Select	NP_006222.2:p.Ala465Ser