Canonical Allele Identifier: CA482722422

Gene: POLE

Linked Data

• ClinVar Variation Id: 2793924
• ClinVar RCV Id: RCV003670542
• dbSNP Id: rs1347081332
• gnomAD v2: 12-133248810-G-A
• gnomAD v4: 12-132672224-G-A
• MyVariant Identifiers: chr12:g.133248810G>A (hg19) ; chr12:g.132672224G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672224G>A , CM000674.2:g.132672224G>A	GRCh38
NC_000012.11:g.133248810G>A , CM000674.1:g.133248810G>A	GRCh37
NC_000012.10:g.131758883G>A	NCBI36
NG_033840.1:g.20301C>T , LRG_789:g.20301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.540C>T
ENST00000699982.1:c.1639C>T
ENST00000699983.1:c.1639C>T
ENST00000699984.1:c.1639C>T
ENST00000320574.10:c.1785C>T MANE Select	ENSP00000322570.5:p.Asn595=
ENST00000672742.1:c.*1287C>T	ENSP00000500279.1:n.*1287C>T
ENST00000320574.9:c.1785C>T	ENSP00000322570.5:p.Asn595=
ENST00000535270.5:c.1704C>T	ENSP00000445753.1:p.Asn568=
ENST00000537064.5:c.*832C>T	ENSP00000442578.1:n.*832C>T
NM_006231.3:c.1785C>T , LRG_789t1:c.1785C>T	NP_006222.2:p.Asn595=
XM_011534795.1:c.1785C>T	XP_011533097.1:p.Asn595=
XM_011534796.1:c.1656C>T	XP_011533098.1:p.Asn552=
XM_011534797.1:c.864C>T	XP_011533099.1:p.Asn288=
XM_011534798.1:c.447C>T	XP_011533100.1:p.Asn149=
XM_011534799.1:c.1785C>T	XP_011533101.1:p.Asn595=
XM_011534800.1:c.1785C>T	XP_011533102.1:p.Asn595=
XM_011534801.1:c.1785C>T	XP_011533103.1:p.Asn595=
XR_941395.1:n.1994C>T
XM_011534795.3:c.1785C>T	XP_011533097.1:p.Asn595=
XM_011534797.3:c.864C>T	XP_011533099.1:p.Asn288=
XM_011534799.2:c.1785C>T	XP_011533101.1:p.Asn595=
XR_002957338.1:n.1989C>T
XR_002957339.1:n.1989C>T
XR_941395.2:n.1989C>T
NM_006231.4:c.1785C>T MANE Select	NP_006222.2:p.Asn595=