Canonical Allele Identifier: CA340138743

Gene: TOE1

Linked Data

• dbSNP Id: rs1646970170
• gnomAD v3: 1-45341473-G-T
• gnomAD v4: 1-45341473-G-T
• MyVariant Identifiers: chr1:g.45807145G>T (hg19) ; chr1:g.45341473G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45341473G>T , CM000663.2:g.45341473G>T	GRCh38
NC_000001.10:g.45807145G>T , CM000663.1:g.45807145G>T	GRCh37
NC_000001.9:g.45579732G>T	NCBI36
NG_008189.1:g.3998C>A , LRG_220:g.3998C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372090.6:c.237G>T MANE Select	ENSP00000361162.5:p.Gln79His
ENST00000671898.1:c.541-6962C>A	ENSP00000499896.1:n.541-6962C>A
ENST00000372090.5:c.237G>T	ENSP00000361162.5:p.Gln79His
ENST00000460057.1:n.48+130G>T
ENST00000471337.5:n.315G>T
ENST00000477731.5:n.456G>T
ENST00000495703.5:n.507G>T
NM_025077.3:c.237G>T	NP_079353.3:p.Gln79His
XM_005270412.2:c.255G>T	XP_005270469.1:p.Gln85His
XM_005270413.3:c.99G>T	XP_005270470.1:p.Gln33His
XM_011540569.1:c.-49+130G>T	XP_011538871.1:n.-49+130G>T
XR_246230.2:n.514G>T
XR_426587.2:n.334G>T
XR_946532.1:n.334G>T
XM_005270412.4:c.255G>T	XP_005270469.1:p.Gln85His
XM_005270413.5:c.99G>T	XP_005270470.1:p.Gln33His
XM_011540569.3:c.-49+130G>T	XP_011538871.1:n.-49+130G>T
XM_024452837.1:c.186G>T	XP_024308605.1:p.Gln62His
XR_001736951.2:n.424G>T
XR_002959287.1:n.826G>T
XR_246230.4:n.424G>T
XR_426587.4:n.334G>T
XR_946532.3:n.334G>T
NM_025077.4:c.237G>T MANE Select	NP_079353.3:p.Gln79His