Canonical Allele Identifier: CA590334
Community Standard Title: NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln)
Gene: MTOR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11228672C>T , CM000663.2:g.11228672C>T GRCh38
NC_000001.10:g.11288729C>T , CM000663.1:g.11288729C>T GRCh37
NC_000001.9:g.11211316C>T NCBI36
NG_033239.1:g.38880G>A , LRG_734:g.38880G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004958.4:c.3026G>A MANE Select NP_004949.1:p.Arg1009Gln
ENST00000361445.9:c.3026G>A MANE Select ENSP00000354558.4:p.Arg1009Gln
NM_001386500.1:c.3026G>A NP_001373429.1:p.Arg1009Gln
NM_001386501.1:c.1778G>A NP_001373430.1:p.Arg593Gln
NM_004958.3:c.3026G>A , LRG_734t1:c.3026G>A NP_004949.1:p.Arg1009Gln
ENST00000361445.8:c.3026G>A ENSP00000354558.4:p.Arg1009Gln
ENST00000703118.1:c.3026G>A ENSP00000515181.1:p.Arg1009Gln
ENST00000703132.1:n.2898G>A
ENST00000703140.1:c.2813G>A ENSP00000515197.1:p.Arg938Gln
ENST00000703141.1:c.3026G>A ENSP00000515198.1:p.Arg1009Gln
ENST00000703142.1:c.2810G>A ENSP00000515199.1:p.Arg937Gln
XM_005263438.1:c.3026G>A XP_005263495.1:p.Arg1009Gln
XM_005263438.2:c.3026G>A XP_005263495.1:p.Arg1009Gln
XM_011541166.1:c.3026G>A XP_011539468.1:p.Arg1009Gln
XM_011541166.2:c.3026G>A XP_011539468.1:p.Arg1009Gln
XM_017000900.1:c.2345G>A XP_016856389.1:p.Arg782Gln
XM_017000901.1:c.1778G>A XP_016856390.1:p.Arg593Gln
XM_017000902.1:c.3026G>A XP_016856391.1:p.Arg1009Gln
XM_024446187.1:c.3026G>A XP_024301955.1:p.Arg1009Gln
XR_001737087.1:n.3147G>A
XR_244786.1:n.3147G>A