Canonical Allele Identifier: CA338397659
Gene: MTOR HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.*1038T>C ENSP00000515181.1:n.*1038T>C
ENST00000703131.1:n.1467T>C
ENST00000703139.1:c.300T>C
ENST00000703140.1:c.5450T>C ENSP00000515197.1:p.Phe1817Ser
ENST00000703141.1:c.*983T>C ENSP00000515198.1:n.*983T>C
ENST00000703142.1:c.*2493T>C ENSP00000515199.1:n.*2493T>C
ENST00000361445.9:c.5663T>C MANE Select ENSP00000354558.4:p.Phe1888Ser
ENST00000361445.8:c.5663T>C ENSP00000354558.4:p.Phe1888Ser
ENST00000376838.5:c.278T>C ENSP00000366034.1:p.Phe93Ser
NM_004958.3:c.5663T>C , LRG_734t1:c.5663T>C NP_004949.1:p.Phe1888Ser
XM_005263438.1:c.5663T>C XP_005263495.1:p.Phe1888Ser
XR_244786.1:n.5784T>C
XM_005263438.2:c.5663T>C XP_005263495.1:p.Phe1888Ser
XM_017000900.1:c.4982T>C XP_016856389.1:p.Phe1661Ser
XM_017000901.1:c.4415T>C XP_016856390.1:p.Phe1472Ser
XM_024446187.1:c.5663T>C XP_024301955.1:p.Phe1888Ser
XR_001737087.1:n.5784T>C
NM_004958.4:c.5663T>C MANE Select NP_004949.1:p.Phe1888Ser
NM_001386500.1:c.5663T>C NP_001373429.1:p.Phe1888Ser
NM_001386501.1:c.4415T>C NP_001373430.1:p.Phe1472Ser