Canonical Allele Identifier: CA246292872

Gene: POLE

Linked Data

• ClinVar Variation Id: 540799
• ClinVar RCV Id: RCV000763814 ; RCV002397302 ; RCV003321707 ; RCV003540559
• dbSNP Id: rs969500436
• gnomAD v2: 12-133248811-T-C
• gnomAD v4: 12-132672225-T-C
• MyVariant Identifiers: chr12:g.133248811T>C (hg19) ; chr12:g.132672225T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132672225T>C , CM000674.2:g.132672225T>C	GRCh38
NC_000012.11:g.133248811T>C , CM000674.1:g.133248811T>C	GRCh37
NC_000012.10:g.131758884T>C	NCBI36
NG_033840.1:g.20300A>G , LRG_789:g.20300A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.539A>G
ENST00000699982.1:c.1638A>G
ENST00000699983.1:c.1638A>G
ENST00000699984.1:c.1638A>G
ENST00000320574.10:c.1784A>G MANE Select	ENSP00000322570.5:p.Asn595Ser
ENST00000672742.1:c.*1286A>G	ENSP00000500279.1:n.*1286A>G
ENST00000320574.9:c.1784A>G	ENSP00000322570.5:p.Asn595Ser
ENST00000535270.5:c.1703A>G	ENSP00000445753.1:p.Asn568Ser
ENST00000537064.5:c.*831A>G	ENSP00000442578.1:n.*831A>G
NM_006231.3:c.1784A>G , LRG_789t1:c.1784A>G	NP_006222.2:p.Asn595Ser
XM_011534795.1:c.1784A>G	XP_011533097.1:p.Asn595Ser
XM_011534796.1:c.1655A>G	XP_011533098.1:p.Asn552Ser
XM_011534797.1:c.863A>G	XP_011533099.1:p.Asn288Ser
XM_011534798.1:c.446A>G	XP_011533100.1:p.Asn149Ser
XM_011534799.1:c.1784A>G	XP_011533101.1:p.Asn595Ser
XM_011534800.1:c.1784A>G	XP_011533102.1:p.Asn595Ser
XM_011534801.1:c.1784A>G	XP_011533103.1:p.Asn595Ser
XR_941395.1:n.1993A>G
XM_011534795.3:c.1784A>G	XP_011533097.1:p.Asn595Ser
XM_011534797.3:c.863A>G	XP_011533099.1:p.Asn288Ser
XM_011534799.2:c.1784A>G	XP_011533101.1:p.Asn595Ser
XR_002957338.1:n.1988A>G
XR_002957339.1:n.1988A>G
XR_941395.2:n.1988A>G
NM_006231.4:c.1784A>G MANE Select	NP_006222.2:p.Asn595Ser