Canonical Allele Identifier: CA6893962

Gene: POLE

Linked Data

• ClinVar Variation Id: 484534
• ClinVar RCV Id: RCV000565766
• dbSNP Id: rs369961557
• ExAC: 12:133249804 G / C
• gnomAD v2: 12-133249804-G-C
• gnomAD v4: 12-132673218-G-C
• MyVariant Identifiers: chr12:g.133249804G>C (hg19) ; chr12:g.132673218G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132673218G>C , CM000674.2:g.132673218G>C	GRCh38
NC_000012.11:g.133249804G>C , CM000674.1:g.133249804G>C	GRCh37
NC_000012.10:g.131759877G>C	NCBI36
NG_033840.1:g.19307C>G , LRG_789:g.19307C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539215.6:c.127C>G
ENST00000545015.2:n.1446C>G
ENST00000699982.1:c.1273C>G
ENST00000699983.1:c.1273C>G
ENST00000699984.1:c.1273C>G
ENST00000320574.10:c.1419C>G MANE Select	ENSP00000322570.5:p.Tyr473Ter
ENST00000672742.1:c.*921C>G	ENSP00000500279.1:n.*921C>G
ENST00000320574.9:c.1419C>G	ENSP00000322570.5:p.Tyr473Ter
ENST00000535270.5:c.1338C>G	ENSP00000445753.1:p.Tyr446Ter
ENST00000535934.2:n.1294C>G
ENST00000537064.5:c.*466C>G	ENSP00000442578.1:n.*466C>G
ENST00000539215.5:n.127C>G
ENST00000545015.1:n.16C>G
NM_006231.3:c.1419C>G , LRG_789t1:c.1419C>G	NP_006222.2:p.Tyr473Ter
XM_011534795.1:c.1419C>G	XP_011533097.1:p.Tyr473Ter
XM_011534796.1:c.1290C>G	XP_011533098.1:p.Tyr430Ter
XM_011534797.1:c.498C>G	XP_011533099.1:p.Tyr166Ter
XM_011534798.1:c.81C>G	XP_011533100.1:p.Tyr27Ter
XM_011534799.1:c.1419C>G	XP_011533101.1:p.Tyr473Ter
XM_011534800.1:c.1419C>G	XP_011533102.1:p.Tyr473Ter
XM_011534801.1:c.1419C>G	XP_011533103.1:p.Tyr473Ter
XR_941395.1:n.1628C>G
XM_011534795.3:c.1419C>G	XP_011533097.1:p.Tyr473Ter
XM_011534797.3:c.498C>G	XP_011533099.1:p.Tyr166Ter
XM_011534799.2:c.1419C>G	XP_011533101.1:p.Tyr473Ter
XR_002957338.1:n.1623C>G
XR_002957339.1:n.1623C>G
XR_941395.2:n.1623C>G
NM_006231.4:c.1419C>G MANE Select	NP_006222.2:p.Tyr473Ter