Canonical Allele Identifier: CA482849589

Gene: POLE

Linked Data

• ClinVar Variation Id: 2915851
• ClinVar RCV Id: RCV003740181
• dbSNP Id: rs1164316162
• gnomAD v4: 12-132672278-G-A
• MyVariant Identifiers: chr12:g.133248864G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672278G>A , CM000674.2:g.132672278G>A	GRCh38
NC_000012.11:g.133248864G>A , CM000674.1:g.133248864G>A	GRCh37
NC_000012.10:g.131758937G>A	NCBI36
NG_033840.1:g.20247C>T , LRG_789:g.20247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.486C>T
ENST00000699982.1:c.1585C>T
ENST00000699983.1:c.1585C>T
ENST00000699984.1:c.1585C>T
ENST00000320574.10:c.1731C>T MANE Select	ENSP00000322570.5:p.Thr577=
ENST00000672742.1:c.*1233C>T	ENSP00000500279.1:n.*1233C>T
ENST00000320574.9:c.1731C>T	ENSP00000322570.5:p.Thr577=
ENST00000535270.5:c.1650C>T	ENSP00000445753.1:p.Thr550=
ENST00000537064.5:c.*778C>T	ENSP00000442578.1:n.*778C>T
NM_006231.3:c.1731C>T , LRG_789t1:c.1731C>T	NP_006222.2:p.Thr577=
XM_011534795.1:c.1731C>T	XP_011533097.1:p.Thr577=
XM_011534796.1:c.1602C>T	XP_011533098.1:p.Thr534=
XM_011534797.1:c.810C>T	XP_011533099.1:p.Thr270=
XM_011534798.1:c.393C>T	XP_011533100.1:p.Thr131=
XM_011534799.1:c.1731C>T	XP_011533101.1:p.Thr577=
XM_011534800.1:c.1731C>T	XP_011533102.1:p.Thr577=
XM_011534801.1:c.1731C>T	XP_011533103.1:p.Thr577=
XR_941395.1:n.1940C>T
XM_011534795.3:c.1731C>T	XP_011533097.1:p.Thr577=
XM_011534797.3:c.810C>T	XP_011533099.1:p.Thr270=
XM_011534799.2:c.1731C>T	XP_011533101.1:p.Thr577=
XR_002957338.1:n.1935C>T
XR_002957339.1:n.1935C>T
XR_941395.2:n.1935C>T
NM_006231.4:c.1731C>T MANE Select	NP_006222.2:p.Thr577=