Canonical Allele Identifier: CA338369660
Community Standard Title: NM_004958.4(MTOR):c.4541G>A (p.Arg1514Gln)
Gene: MTOR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11150155C>T , CM000663.2:g.11150155C>T GRCh38
NC_000001.10:g.11210212C>T , CM000663.1:g.11210212C>T GRCh37
NC_000001.9:g.11132799C>T NCBI36
NG_033239.1:g.117397G>A , LRG_734:g.117397G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004958.4:c.4541G>A MANE Select NP_004949.1:p.Arg1514Gln
ENST00000361445.9:c.4541G>A MANE Select ENSP00000354558.4:p.Arg1514Gln
NM_001386500.1:c.4541G>A NP_001373429.1:p.Arg1514Gln
NM_001386501.1:c.3293G>A NP_001373430.1:p.Arg1098Gln
NM_004958.3:c.4541G>A , LRG_734t1:c.4541G>A NP_004949.1:p.Arg1514Gln
ENST00000361445.8:c.4541G>A ENSP00000354558.4:p.Arg1514Gln
ENST00000703118.1:c.4470-3364G>A ENSP00000515181.1:n.4470-3364G>A
ENST00000703131.1:n.461G>A
ENST00000703140.1:c.4328G>A ENSP00000515197.1:p.Arg1443Gln
ENST00000703141.1:c.4541G>A ENSP00000515198.1:p.Arg1514Gln
ENST00000703142.1:c.*1371G>A ENSP00000515199.1:n.*1371G>A
XM_005263438.1:c.4541G>A XP_005263495.1:p.Arg1514Gln
XM_005263438.2:c.4541G>A XP_005263495.1:p.Arg1514Gln
XM_011541166.1:c.4541G>A XP_011539468.1:p.Arg1514Gln
XM_011541166.2:c.4541G>A XP_011539468.1:p.Arg1514Gln
XM_017000900.1:c.3860G>A XP_016856389.1:p.Arg1287Gln
XM_017000901.1:c.3293G>A XP_016856390.1:p.Arg1098Gln
XM_024446187.1:c.4541G>A XP_024301955.1:p.Arg1514Gln
XR_001737087.1:n.4662G>A
XR_244786.1:n.4662G>A