Canonical Allele Identifier: CA2643251561
Gene: MTOR HGNC NCBI

Linked Data

gnomAD v4: 1-11247773-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11247773A>G , CM000663.2:g.11247773A>G GRCh38
NC_000001.10:g.11307830A>G , CM000663.1:g.11307830A>G GRCh37
NC_000001.9:g.11230417A>G NCBI36
NG_033239.1:g.19779T>C , LRG_734:g.19779T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.1117-40T>C ENSP00000515181.1:n.1117-40T>C
ENST00000703132.1:n.1097+46T>C
ENST00000703140.1:c.1117-40T>C ENSP00000515197.1:n.1117-40T>C
ENST00000703141.1:c.1117-40T>C ENSP00000515198.1:n.1117-40T>C
ENST00000703142.1:c.1117-40T>C ENSP00000515199.1:n.1117-40T>C
ENST00000703143.1:c.1117-40T>C ENSP00000515200.1:n.1117-40T>C
ENST00000703144.1:n.87-40T>C
ENST00000361445.9:c.1117-40T>C MANE Select ENSP00000354558.4:n.1117-40T>C
ENST00000361445.8:c.1117-40T>C ENSP00000354558.4:n.1117-40T>C
NM_004958.3:c.1117-40T>C , LRG_734t1:c.1117-40T>C NP_004949.1:n.1117-40T>C
XM_005263438.1:c.1117-40T>C XP_005263495.1:n.1117-40T>C
XM_011541166.1:c.1117-40T>C XP_011539468.1:n.1117-40T>C
XR_244786.1:n.1238-40T>C
XM_005263438.2:c.1117-40T>C XP_005263495.1:n.1117-40T>C
XM_011541166.2:c.1117-40T>C XP_011539468.1:n.1117-40T>C
XM_017000900.1:c.436-40T>C XP_016856389.1:n.436-40T>C
XM_017000901.1:c.-24+46T>C XP_016856390.1:n.-24+46T>C
XM_017000902.1:c.1117-40T>C XP_016856391.1:n.1117-40T>C
XM_024446187.1:c.1117-40T>C XP_024301955.1:n.1117-40T>C
XR_001737087.1:n.1238-40T>C
NM_004958.4:c.1117-40T>C MANE Select NP_004949.1:n.1117-40T>C
NM_001386500.1:c.1117-40T>C NP_001373429.1:n.1117-40T>C
NM_001386501.1:c.-24+46T>C NP_001373430.1:n.-24+46T>C