Canonical Allele Identifier: CA415916555
Gene: MTOR HGNC NCBI

Linked Data

dbSNP Id: rs2100287128
MyVariant Identifiers: chr1:g.11169398G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11109341G>A , CM000663.2:g.11109341G>A GRCh38
NC_000001.10:g.11169398G>A , CM000663.1:g.11169398G>A GRCh37
NC_000001.9:g.11091985G>A NCBI36
NG_033239.1:g.158211C>T , LRG_734:g.158211C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.*2852C>T ENSP00000515181.1:n.*2852C>T
ENST00000703131.1:n.3395C>T
ENST00000703139.1:c.2265C>T
ENST00000703140.1:c.7264C>T ENSP00000515197.1:p.Leu2422=
ENST00000703141.1:c.*2994C>T ENSP00000515198.1:n.*2994C>T
ENST00000703142.1:c.*4307C>T ENSP00000515199.1:n.*4307C>T
ENST00000361445.9:c.7477C>T MANE Select ENSP00000354558.4:p.Leu2493=
ENST00000361445.8:c.7477C>T ENSP00000354558.4:p.Leu2493=
ENST00000376838.5:c.2092C>T ENSP00000366034.1:p.Leu698=
ENST00000455339.1:c.445C>T ENSP00000398745.1:p.Leu149=
ENST00000473471.5:n.489C>T
ENST00000490931.1:n.760C>T
NM_004958.3:c.7477C>T , LRG_734t1:c.7477C>T NP_004949.1:p.Leu2493=
XM_005263438.1:c.7477C>T XP_005263495.1:p.Leu2493=
XM_005263438.2:c.7477C>T XP_005263495.1:p.Leu2493=
XM_017000900.1:c.6796C>T XP_016856389.1:p.Leu2266=
XM_017000901.1:c.6229C>T XP_016856390.1:p.Leu2077=
XM_024446187.1:c.7477C>T XP_024301955.1:p.Leu2493=
XR_001737087.1:n.7515C>T
NM_004958.4:c.7477C>T MANE Select NP_004949.1:p.Leu2493=
NM_001386500.1:c.7477C>T NP_001373429.1:p.Leu2493=
NM_001386501.1:c.6229C>T NP_001373430.1:p.Leu2077=