Canonical Allele Identifier: CA10983507
Gene: TOE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1221523
ClinVar RCV Id: RCV001597814
dbSNP Id: rs3219463

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45340760C>T , CM000663.2:g.45340760C>T GRCh38
NC_000001.10:g.45806432C>T , CM000663.1:g.45806432C>T GRCh37
NC_000001.9:g.45579019C>T NCBI36
NG_008189.1:g.4711G>A , LRG_220:g.4711G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372090.6:c.53-313C>T MANE Select ENSP00000361162.5:p.=
ENST00000671898.1:c.541-6249G>A ENSP00000499896.1:p.=
ENST00000672011.1:c.-506G>A ENSP00000500418.1:p.=
ENST00000372090.5:c.53-313C>T ENSP00000361162.5:p.=
ENST00000471337.5:n.131-313C>T
ENST00000477731.5:n.272-313C>T
ENST00000495703.5:n.322+218C>T
NM_025077.3:c.53-313C>T NP_079353.3:p.=
XM_005270412.2:c.71-313C>T XP_005270469.1:p.=
XM_005270413.3:c.-87+218C>T XP_005270470.1:p.=
XM_011540569.1:c.-232-313C>T XP_011538871.1:p.=
XR_246230.2:n.330-313C>T
XR_426587.2:n.150-313C>T
XR_946532.1:n.150-313C>T
XM_005270412.4:c.71-313C>T XP_005270469.1:p.=
XM_005270413.5:c.-87+218C>T XP_005270470.1:p.=
XM_011540569.3:c.-232-313C>T XP_011538871.1:p.=
XM_024452837.1:c.-87+218C>T XP_024308605.1:p.=
XR_001736951.2:n.240-313C>T
XR_002959287.1:n.555-313C>T
XR_246230.4:n.240-313C>T
XR_426587.4:n.150-313C>T
XR_946532.3:n.150-313C>T
NM_025077.4:c.53-313C>T MANE Select NP_079353.3:p.=