Canonical Allele Identifier: CA6892017

Gene: POLE

Linked Data

• ClinVar Variation Id: 405833
• ClinVar RCV Id: RCV000464636 ; RCV002365615 ; RCV003654341
• dbSNP Id: rs765125852
• ExAC: 12:133201565 G / A
• gnomAD v2: 12-133201565-G-A
• gnomAD v3: 12-132624979-G-A
• gnomAD v4: 12-132624979-G-A
• MyVariant Identifiers: chr12:g.133201565G>A (hg19) ; chr12:g.132624979G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132624979G>A , CM000674.2:g.132624979G>A	GRCh38
NC_000012.11:g.133201565G>A , CM000674.1:g.133201565G>A	GRCh37
NC_000012.10:g.131711638G>A	NCBI36
NG_033840.1:g.67546C>T , LRG_789:g.67546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434528.5:c.2211C>T	ENSP00000500921.1:n.2211C>T
ENST00000544870.6:c.4326C>T	ENSP00000479927.2:n.4326C>T
ENST00000699981.1:n.4327C>T
ENST00000699982.1:c.6527C>T
ENST00000699983.1:c.7231C>T
ENST00000699984.1:c.6459C>T
ENST00000320574.10:c.6673C>T MANE Select	ENSP00000322570.5:p.Arg2225Cys
ENST00000434528.4:c.2211C>T	ENSP00000500921.1:n.2211C>T
ENST00000672002.1:c.4346C>T	ENSP00000500233.1:n.4346C>T
ENST00000672742.1:c.*6879C>T	ENSP00000500279.1:n.*6879C>T
ENST00000320574.9:c.6673C>T	ENSP00000322570.5:p.Arg2225Cys
ENST00000534922.5:n.1236C>T
ENST00000535270.5:c.6592C>T	ENSP00000445753.1:p.Arg2198Cys
ENST00000537064.5:c.*6424C>T	ENSP00000442578.1:n.*6424C>T
ENST00000541627.2:n.973C>T
ENST00000544692.5:n.2042C>T
NM_006231.3:c.6673C>T , LRG_789t1:c.6673C>T	NP_006222.2:p.Arg2225Cys
XR_002957339.1:n.7565C>T
NM_006231.4:c.6673C>T MANE Select	NP_006222.2:p.Arg2225Cys