Canonical Allele Identifier: CA387358665

Gene: POLE

Linked Data

• ClinVar Variation Id: 2838767
• ClinVar RCV Id: RCV003695199
• dbSNP Id: rs760275976
• COSMIC: COSM4952435 ; COSM4952436
• MyVariant Identifiers: chr12:g.133249836C>A (hg19) ; chr12:g.132673250C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673250C>A , CM000674.2:g.132673250C>A	GRCh38
NC_000012.11:g.133249836C>A , CM000674.1:g.133249836C>A	GRCh37
NC_000012.10:g.131759909C>A	NCBI36
NG_033840.1:g.19275G>T , LRG_789:g.19275G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.95G>T
ENST00000545015.2:n.1414G>T
ENST00000699982.1:c.1241G>T
ENST00000699983.1:c.1241G>T
ENST00000699984.1:c.1241G>T
ENST00000320574.10:c.1387G>T MANE Select	ENSP00000322570.5:p.Ala463Ser
ENST00000672742.1:c.*889G>T	ENSP00000500279.1:n.*889G>T
ENST00000320574.9:c.1387G>T	ENSP00000322570.5:p.Ala463Ser
ENST00000535270.5:c.1306G>T	ENSP00000445753.1:p.Ala436Ser
ENST00000535934.2:n.1262G>T
ENST00000537064.5:c.*434G>T	ENSP00000442578.1:n.*434G>T
ENST00000539215.5:n.95G>T
NM_006231.3:c.1387G>T , LRG_789t1:c.1387G>T	NP_006222.2:p.Ala463Ser
XM_011534795.1:c.1387G>T	XP_011533097.1:p.Ala463Ser
XM_011534796.1:c.1258G>T	XP_011533098.1:p.Ala420Ser
XM_011534797.1:c.466G>T	XP_011533099.1:p.Ala156Ser
XM_011534798.1:c.49G>T	XP_011533100.1:p.Ala17Ser
XM_011534799.1:c.1387G>T	XP_011533101.1:p.Ala463Ser
XM_011534800.1:c.1387G>T	XP_011533102.1:p.Ala463Ser
XM_011534801.1:c.1387G>T	XP_011533103.1:p.Ala463Ser
XR_941395.1:n.1596G>T
XM_011534795.3:c.1387G>T	XP_011533097.1:p.Ala463Ser
XM_011534797.3:c.466G>T	XP_011533099.1:p.Ala156Ser
XM_011534799.2:c.1387G>T	XP_011533101.1:p.Ala463Ser
XR_002957338.1:n.1591G>T
XR_002957339.1:n.1591G>T
XR_941395.2:n.1591G>T
NM_006231.4:c.1387G>T MANE Select	NP_006222.2:p.Ala463Ser