Canonical Allele Identifier: CA338378549
Gene: MTOR HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11109304C>T , CM000663.2:g.11109304C>T GRCh38
NC_000001.10:g.11169361C>T , CM000663.1:g.11169361C>T GRCh37
NC_000001.9:g.11091948C>T NCBI36
NG_033239.1:g.158248G>A , LRG_734:g.158248G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.*2889G>A ENSP00000515181.1:n.*2889G>A
ENST00000703131.1:n.3432G>A
ENST00000703139.1:c.2302G>A
ENST00000703140.1:c.7301G>A ENSP00000515197.1:p.Arg2434Gln
ENST00000703141.1:c.*3031G>A ENSP00000515198.1:n.*3031G>A
ENST00000703142.1:c.*4344G>A ENSP00000515199.1:n.*4344G>A
ENST00000361445.9:c.7514G>A MANE Select ENSP00000354558.4:p.Arg2505Gln
ENST00000361445.8:c.7514G>A ENSP00000354558.4:p.Arg2505Gln
ENST00000376838.5:c.2129G>A ENSP00000366034.1:p.Arg710Gln
ENST00000455339.1:c.482G>A ENSP00000398745.1:p.Arg161Gln
ENST00000473471.5:n.526G>A
ENST00000490931.1:n.797G>A
NM_004958.3:c.7514G>A , LRG_734t1:c.7514G>A NP_004949.1:p.Arg2505Gln
XM_005263438.1:c.7514G>A XP_005263495.1:p.Arg2505Gln
XM_005263438.2:c.7514G>A XP_005263495.1:p.Arg2505Gln
XM_017000900.1:c.6833G>A XP_016856389.1:p.Arg2278Gln
XM_017000901.1:c.6266G>A XP_016856390.1:p.Arg2089Gln
XM_024446187.1:c.7514G>A XP_024301955.1:p.Arg2505Gln
XR_001737087.1:n.7552G>A
NM_004958.4:c.7514G>A MANE Select NP_004949.1:p.Arg2505Gln
NM_001386500.1:c.7514G>A NP_001373429.1:p.Arg2505Gln
NM_001386501.1:c.6266G>A NP_001373430.1:p.Arg2089Gln