Canonical Allele Identifier: CA6894219

Gene: POLE

Linked Data

• ClinVar Variation Id: 371978
• ClinVar RCV Id: RCV000412057 ; RCV000424266 ; RCV002480261 ; RCV003657758
• dbSNP Id: rs200320553
• ExAC: 12:133254148 A / G
• gnomAD v2: 12-133254148-A-G
• gnomAD v3: 12-132677562-A-G
• gnomAD v4: 12-132677562-A-G
• MyVariant Identifiers: chr12:g.133254148A>G (hg19) ; chr12:g.132677562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132677562A>G , CM000674.2:g.132677562A>G	GRCh38
NC_000012.11:g.133254148A>G , CM000674.1:g.133254148A>G	GRCh37
NC_000012.10:g.131764221A>G	NCBI36
NG_033840.1:g.14963T>C , LRG_789:g.14963T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545015.2:n.747+16T>C
ENST00000699982.1:c.566+16T>C
ENST00000699983.1:c.566+16T>C
ENST00000699984.1:c.566+16T>C
ENST00000699985.1:n.781+16T>C
ENST00000320574.10:c.720+16T>C MANE Select	ENSP00000322570.5:n.720+16T>C
ENST00000672742.1:c.*214+16T>C	ENSP00000500279.1:n.*214+16T>C
ENST00000320574.9:c.720+16T>C	ENSP00000322570.5:n.720+16T>C
ENST00000535270.5:c.639+16T>C	ENSP00000445753.1:n.639+16T>C
ENST00000537064.5:c.720+16T>C	ENSP00000442578.1:n.720+16T>C
NM_006231.3:c.720+16T>C , LRG_789t1:c.720+16T>C	NP_006222.2:n.720+16T>C
XM_011534795.1:c.720+16T>C	XP_011533097.1:n.720+16T>C
XM_011534796.1:c.591+16T>C	XP_011533098.1:n.591+16T>C
XM_011534799.1:c.720+16T>C	XP_011533101.1:n.720+16T>C
XM_011534800.1:c.720+16T>C	XP_011533102.1:n.720+16T>C
XM_011534801.1:c.720+16T>C	XP_011533103.1:n.720+16T>C
XR_941395.1:n.929+16T>C
XM_011534795.3:c.720+16T>C	XP_011533097.1:n.720+16T>C
XM_011534799.2:c.720+16T>C	XP_011533101.1:n.720+16T>C
XR_002957338.1:n.924+16T>C
XR_002957339.1:n.924+16T>C
XR_941395.2:n.924+16T>C
NM_006231.4:c.720+16T>C MANE Select	NP_006222.2:n.720+16T>C