Canonical Allele Identifier: CA338371448
Community Standard Title: NM_004958.4(MTOR):c.4468T>A (p.Trp1490Arg)
Gene: MTOR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11157153A>T , CM000663.2:g.11157153A>T GRCh38
NC_000001.10:g.11217210A>T , CM000663.1:g.11217210A>T GRCh37
NC_000001.9:g.11139797A>T NCBI36
NG_033239.1:g.110399T>A , LRG_734:g.110399T>A

Transcript Alleles

HGVS Amino-acid Change
NM_004958.4:c.4468T>A MANE Select NP_004949.1:p.Trp1490Arg
ENST00000361445.9:c.4468T>A MANE Select ENSP00000354558.4:p.Trp1490Arg
NM_001386500.1:c.4468T>A NP_001373429.1:p.Trp1490Arg
NM_001386501.1:c.3220T>A NP_001373430.1:p.Trp1074Arg
NM_004958.3:c.4468T>A , LRG_734t1:c.4468T>A NP_004949.1:p.Trp1490Arg
ENST00000361445.8:c.4468T>A ENSP00000354558.4:p.Trp1490Arg
ENST00000703118.1:c.4468T>A ENSP00000515181.1:p.Trp1490Arg
ENST00000703131.1:n.388T>A
ENST00000703140.1:c.4255T>A ENSP00000515197.1:p.Trp1419Arg
ENST00000703141.1:c.4468T>A ENSP00000515198.1:p.Trp1490Arg
ENST00000703142.1:c.*1298T>A ENSP00000515199.1:n.*1298T>A
XM_005263438.1:c.4468T>A XP_005263495.1:p.Trp1490Arg
XM_005263438.2:c.4468T>A XP_005263495.1:p.Trp1490Arg
XM_011541166.1:c.4468T>A XP_011539468.1:p.Trp1490Arg
XM_011541166.2:c.4468T>A XP_011539468.1:p.Trp1490Arg
XM_017000900.1:c.3787T>A XP_016856389.1:p.Trp1263Arg
XM_017000901.1:c.3220T>A XP_016856390.1:p.Trp1074Arg
XM_024446187.1:c.4468T>A XP_024301955.1:p.Trp1490Arg
XR_001737087.1:n.4589T>A
XR_244786.1:n.4589T>A