Canonical Allele Identifier: CA6894316

Gene: POLE

Linked Data

• ClinVar Variation Id: 405687
• ClinVar RCV Id: RCV000476907 ; RCV001284215 ; RCV000563876 ; RCV000826023 ; RCV002480361 ; RCV004533156
• dbSNP Id: rs755709875
• ExAC: 12:133256230 T / C
• gnomAD v2: 12-133256230-T-C
• gnomAD v3: 12-132679644-T-C
• gnomAD v4: 12-132679644-T-C
• COSMIC: COSM1605844 ; COSM1605845
• MyVariant Identifiers: chr12:g.133256230T>C (hg19) ; chr12:g.132679644T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132679644T>C , CM000674.2:g.132679644T>C	GRCh38
NC_000012.11:g.133256230T>C , CM000674.1:g.133256230T>C	GRCh37
NC_000012.10:g.131766303T>C	NCBI36
NG_033840.1:g.12881A>G , LRG_789:g.12881A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.458A>G
ENST00000699982.1:c.277A>G
ENST00000699983.1:c.277A>G
ENST00000699984.1:c.277A>G
ENST00000699985.1:n.492A>G
ENST00000320574.10:c.431A>G MANE Select	ENSP00000322570.5:p.His144Arg
ENST00000672742.1:c.431A>G	ENSP00000500279.1:p.His144Arg
ENST00000320574.9:c.431A>G	ENSP00000322570.5:p.His144Arg
ENST00000535270.5:c.350A>G	ENSP00000445753.1:p.His117Arg
ENST00000537064.5:c.431A>G	ENSP00000442578.1:p.His144Arg
NM_006231.3:c.431A>G , LRG_789t1:c.431A>G	NP_006222.2:p.His144Arg
XM_011534795.1:c.431A>G	XP_011533097.1:p.His144Arg
XM_011534796.1:c.302A>G	XP_011533098.1:p.His101Arg
XM_011534799.1:c.431A>G	XP_011533101.1:p.His144Arg
XM_011534800.1:c.431A>G	XP_011533102.1:p.His144Arg
XM_011534801.1:c.431A>G	XP_011533103.1:p.His144Arg
XR_941395.1:n.640A>G
XM_011534795.3:c.431A>G	XP_011533097.1:p.His144Arg
XM_011534799.2:c.431A>G	XP_011533101.1:p.His144Arg
XR_002957338.1:n.635A>G
XR_002957339.1:n.635A>G
XR_941395.2:n.635A>G
NM_006231.4:c.431A>G MANE Select	NP_006222.2:p.His144Arg