Canonical Allele Identifier: CA826507

Gene: TOE1

Linked Data

• ClinVar Variation Id: 1279928
• ClinVar RCV Id: RCV001678596
• dbSNP Id: rs773776995
• ExAC: 1:45807143 A / G
• gnomAD v2: 1-45807143-A-G
• gnomAD v3: 1-45341471-A-G
• gnomAD v4: 1-45341471-A-G
• MyVariant Identifiers: chr1:g.45807143A>G (hg19) ; chr1:g.45341471A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45341471A>G , CM000663.2:g.45341471A>G	GRCh38
NC_000001.10:g.45807143A>G , CM000663.1:g.45807143A>G	GRCh37
NC_000001.9:g.45579730A>G	NCBI36
NG_008189.1:g.4000T>C , LRG_220:g.4000T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372090.6:c.237-2A>G MANE Select	ENSP00000361162.5:n.237-2A>G
ENST00000671898.1:c.541-6960T>C	ENSP00000499896.1:n.541-6960T>C
ENST00000372090.5:c.237-2A>G	ENSP00000361162.5:n.237-2A>G
ENST00000460057.1:n.48+128A>G
ENST00000471337.5:n.315-2A>G
ENST00000477731.5:n.456-2A>G
ENST00000495703.5:n.507-2A>G
NM_025077.3:c.237-2A>G	NP_079353.3:n.237-2A>G
XM_005270412.2:c.255-2A>G	XP_005270469.1:n.255-2A>G
XM_005270413.3:c.99-2A>G	XP_005270470.1:n.99-2A>G
XM_011540569.1:c.-49+128A>G	XP_011538871.1:n.-49+128A>G
XR_246230.2:n.514-2A>G
XR_426587.2:n.334-2A>G
XR_946532.1:n.334-2A>G
XM_005270412.4:c.255-2A>G	XP_005270469.1:n.255-2A>G
XM_005270413.5:c.99-2A>G	XP_005270470.1:n.99-2A>G
XM_011540569.3:c.-49+128A>G	XP_011538871.1:n.-49+128A>G
XM_024452837.1:c.186-2A>G	XP_024308605.1:n.186-2A>G
XR_001736951.2:n.424-2A>G
XR_002959287.1:n.826-2A>G
XR_246230.4:n.424-2A>G
XR_426587.4:n.334-2A>G
XR_946532.3:n.334-2A>G
NM_025077.4:c.237-2A>G MANE Select	NP_079353.3:n.237-2A>G