Canonical Allele Identifier: CA826505

Gene: TOE1

Linked Data

• dbSNP Id: rs760321382
• ExAC: 1:45807138 C / T
• gnomAD v2: 1-45807138-C-T
• MyVariant Identifiers: chr1:g.45807138C>T (hg19) ; chr1:g.45341466C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45341466C>T , CM000663.2:g.45341466C>T	GRCh38
NC_000001.10:g.45807138C>T , CM000663.1:g.45807138C>T	GRCh37
NC_000001.9:g.45579725C>T	NCBI36
NG_008189.1:g.4005G>A , LRG_220:g.4005G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372090.6:c.237-7C>T MANE Select	ENSP00000361162.5:n.237-7C>T
ENST00000671898.1:c.541-6955G>A	ENSP00000499896.1:n.541-6955G>A
ENST00000372090.5:c.237-7C>T	ENSP00000361162.5:n.237-7C>T
ENST00000460057.1:n.48+123C>T
ENST00000471337.5:n.315-7C>T
ENST00000477731.5:n.456-7C>T
ENST00000495703.5:n.507-7C>T
NM_025077.3:c.237-7C>T	NP_079353.3:n.237-7C>T
XM_005270412.2:c.255-7C>T	XP_005270469.1:n.255-7C>T
XM_005270413.3:c.99-7C>T	XP_005270470.1:n.99-7C>T
XM_011540569.1:c.-49+123C>T	XP_011538871.1:n.-49+123C>T
XR_246230.2:n.514-7C>T
XR_426587.2:n.334-7C>T
XR_946532.1:n.334-7C>T
XM_005270412.4:c.255-7C>T	XP_005270469.1:n.255-7C>T
XM_005270413.5:c.99-7C>T	XP_005270470.1:n.99-7C>T
XM_011540569.3:c.-49+123C>T	XP_011538871.1:n.-49+123C>T
XM_024452837.1:c.186-7C>T	XP_024308605.1:n.186-7C>T
XR_001736951.2:n.424-7C>T
XR_002959287.1:n.826-7C>T
XR_246230.4:n.424-7C>T
XR_426587.4:n.334-7C>T
XR_946532.3:n.334-7C>T
NM_025077.4:c.237-7C>T MANE Select	NP_079353.3:n.237-7C>T