Canonical Allele Identifier: CA340138745

Gene: TOE1

Linked Data

• MyVariant Identifiers: chr1:g.45807146T>C (hg19) ; chr1:g.45341474T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45341474T>C , CM000663.2:g.45341474T>C	GRCh38
NC_000001.10:g.45807146T>C , CM000663.1:g.45807146T>C	GRCh37
NC_000001.9:g.45579733T>C	NCBI36
NG_008189.1:g.3997A>G , LRG_220:g.3997A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372090.6:c.238T>C MANE Select	ENSP00000361162.5:p.Cys80Arg
ENST00000671898.1:c.541-6963A>G	ENSP00000499896.1:n.541-6963A>G
ENST00000372090.5:c.238T>C	ENSP00000361162.5:p.Cys80Arg
ENST00000460057.1:n.48+131T>C
ENST00000471337.5:n.316T>C
ENST00000477731.5:n.457T>C
ENST00000495703.5:n.508T>C
NM_025077.3:c.238T>C	NP_079353.3:p.Cys80Arg
XM_005270412.2:c.256T>C	XP_005270469.1:p.Cys86Arg
XM_005270413.3:c.100T>C	XP_005270470.1:p.Cys34Arg
XM_011540569.1:c.-49+131T>C	XP_011538871.1:n.-49+131T>C
XR_246230.2:n.515T>C
XR_426587.2:n.335T>C
XR_946532.1:n.335T>C
XM_005270412.4:c.256T>C	XP_005270469.1:p.Cys86Arg
XM_005270413.5:c.100T>C	XP_005270470.1:p.Cys34Arg
XM_011540569.3:c.-49+131T>C	XP_011538871.1:n.-49+131T>C
XM_024452837.1:c.187T>C	XP_024308605.1:p.Cys63Arg
XR_001736951.2:n.425T>C
XR_002959287.1:n.827T>C
XR_246230.4:n.425T>C
XR_426587.4:n.335T>C
XR_946532.3:n.335T>C
NM_025077.4:c.238T>C MANE Select	NP_079353.3:p.Cys80Arg