Canonical Allele Identifier: CA338397657
Gene: MTOR HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11129789A>T , CM000663.2:g.11129789A>T GRCh38
NC_000001.10:g.11189846A>T , CM000663.1:g.11189846A>T GRCh37
NC_000001.9:g.11112433A>T NCBI36
NG_033239.1:g.137763T>A , LRG_734:g.137763T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.*1038T>A ENSP00000515181.1:n.*1038T>A
ENST00000703131.1:n.1467T>A
ENST00000703139.1:c.300T>A
ENST00000703140.1:c.5450T>A ENSP00000515197.1:p.Phe1817Tyr
ENST00000703141.1:c.*983T>A ENSP00000515198.1:n.*983T>A
ENST00000703142.1:c.*2493T>A ENSP00000515199.1:n.*2493T>A
ENST00000361445.9:c.5663T>A MANE Select ENSP00000354558.4:p.Phe1888Tyr
ENST00000361445.8:c.5663T>A ENSP00000354558.4:p.Phe1888Tyr
ENST00000376838.5:c.278T>A ENSP00000366034.1:p.Phe93Tyr
NM_004958.3:c.5663T>A , LRG_734t1:c.5663T>A NP_004949.1:p.Phe1888Tyr
XM_005263438.1:c.5663T>A XP_005263495.1:p.Phe1888Tyr
XR_244786.1:n.5784T>A
XM_005263438.2:c.5663T>A XP_005263495.1:p.Phe1888Tyr
XM_017000900.1:c.4982T>A XP_016856389.1:p.Phe1661Tyr
XM_017000901.1:c.4415T>A XP_016856390.1:p.Phe1472Tyr
XM_024446187.1:c.5663T>A XP_024301955.1:p.Phe1888Tyr
XR_001737087.1:n.5784T>A
NM_004958.4:c.5663T>A MANE Select NP_004949.1:p.Phe1888Tyr
NM_001386500.1:c.5663T>A NP_001373429.1:p.Phe1888Tyr
NM_001386501.1:c.4415T>A NP_001373430.1:p.Phe1472Tyr