Canonical Allele Identifier: CA246298792

Gene: POLE

Linked Data

• ClinVar Variation Id: 473740
• ClinVar RCV Id: RCV000601946 ; RCV000571362 ; RCV001697415 ; RCV002476191
• dbSNP Id: rs1032264693
• gnomAD v2: 12-133214719-G-A
• gnomAD v3: 12-132638133-G-A
• gnomAD v4: 12-132638133-G-A
• MyVariant Identifiers: chr12:g.133214719G>A (hg19) ; chr12:g.132638133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132638133G>A , CM000674.2:g.132638133G>A	GRCh38
NC_000012.11:g.133214719G>A , CM000674.1:g.133214719G>A	GRCh37
NC_000012.10:g.131724792G>A	NCBI36
NG_033840.1:g.54392C>T , LRG_789:g.54392C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416953.3:n.3729C>T
ENST00000434528.5:c.1097C>T	ENSP00000500921.1:n.1097C>T
ENST00000544870.6:c.3232C>T	ENSP00000479927.2:n.3232C>T
ENST00000699981.1:n.3213C>T
ENST00000699982.1:c.5413C>T
ENST00000699983.1:c.6117C>T
ENST00000699984.1:c.5413C>T
ENST00000320574.10:c.5559C>T MANE Select	ENSP00000322570.5:p.Ile1853=
ENST00000434528.4:c.1097C>T	ENSP00000500921.1:n.1097C>T
ENST00000672002.1:c.3232C>T	ENSP00000500233.1:n.3232C>T
ENST00000672742.1:c.*5765C>T	ENSP00000500279.1:n.*5765C>T
ENST00000320574.9:c.5559C>T	ENSP00000322570.5:p.Ile1853=
ENST00000434528.3:n.542C>T
ENST00000535270.5:c.5478C>T	ENSP00000445753.1:p.Ile1826=
ENST00000537064.5:c.*5310C>T	ENSP00000442578.1:n.*5310C>T
ENST00000541213.5:n.1037C>T
NM_006231.3:c.5559C>T , LRG_789t1:c.5559C>T	NP_006222.2:p.Ile1853=
XM_011534795.1:c.5559C>T	XP_011533097.1:p.Ile1853=
XM_011534796.1:c.5430C>T	XP_011533098.1:p.Ile1810=
XM_011534797.1:c.4638C>T	XP_011533099.1:p.Ile1546=
XM_011534798.1:c.4221C>T	XP_011533100.1:p.Ile1407=
XM_011534802.1:c.2547C>T	XP_011533104.1:p.Ile849=
XM_011534795.3:c.5559C>T	XP_011533097.1:p.Ile1853=
XM_011534797.3:c.4638C>T	XP_011533099.1:p.Ile1546=
XM_011534802.3:c.2547C>T	XP_011533104.1:p.Ile849=
XR_002957338.1:n.6392C>T
XR_002957339.1:n.6105C>T
NM_006231.4:c.5559C>T MANE Select	NP_006222.2:p.Ile1853=