Canonical Allele Identifier: CA338400836
Gene: MTOR HGNC NCBI

Linked Data

dbSNP Id: rs1649083303
gnomAD v3: 1-11248072-T-G
gnomAD v4: 1-11248072-T-G
MyVariant Identifiers: chr1:g.11308129T>G (hg19) chr1:g.11248072T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11248072T>G , CM000663.2:g.11248072T>G GRCh38
NC_000001.10:g.11308129T>G , CM000663.1:g.11308129T>G GRCh37
NC_000001.9:g.11230716T>G NCBI36
NG_033239.1:g.19480A>C , LRG_734:g.19480A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.863A>C ENSP00000515181.1:p.Glu288Ala
ENST00000703132.1:n.844A>C
ENST00000703140.1:c.863A>C ENSP00000515197.1:p.Glu288Ala
ENST00000703141.1:c.863A>C ENSP00000515198.1:p.Glu288Ala
ENST00000703142.1:c.863A>C ENSP00000515199.1:p.Glu288Ala
ENST00000703143.1:c.863A>C ENSP00000515200.1:p.Glu288Ala
ENST00000361445.9:c.863A>C MANE Select ENSP00000354558.4:p.Glu288Ala
ENST00000361445.8:c.863A>C ENSP00000354558.4:p.Glu288Ala
NM_004958.3:c.863A>C , LRG_734t1:c.863A>C NP_004949.1:p.Glu288Ala
XM_005263438.1:c.863A>C XP_005263495.1:p.Glu288Ala
XM_011541166.1:c.863A>C XP_011539468.1:p.Glu288Ala
XR_244786.1:n.984A>C
XM_005263438.2:c.863A>C XP_005263495.1:p.Glu288Ala
XM_011541166.2:c.863A>C XP_011539468.1:p.Glu288Ala
XM_017000900.1:c.182A>C XP_016856389.1:p.Glu61Ala
XM_017000901.1:c.-277A>C XP_016856390.1:n.-277A>C
XM_017000902.1:c.863A>C XP_016856391.1:p.Glu288Ala
XM_024446187.1:c.863A>C XP_024301955.1:p.Glu288Ala
XR_001737087.1:n.984A>C
NM_004958.4:c.863A>C MANE Select NP_004949.1:p.Glu288Ala
NM_001386500.1:c.863A>C NP_001373429.1:p.Glu288Ala
NM_001386501.1:c.-277A>C NP_001373430.1:n.-277A>C
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