Canonical Allele Identifier: CA589119
Gene: MTOR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11126972A>G , CM000663.2:g.11126972A>G GRCh38
NC_000001.10:g.11187029A>G , CM000663.1:g.11187029A>G GRCh37
NC_000001.9:g.11109616A>G NCBI36
NG_033239.1:g.140580T>C , LRG_734:g.140580T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.*1726+38T>C ENSP00000515181.1:n.*1726+38T>C
ENST00000703131.1:n.2352+38T>C
ENST00000703139.1:c.988+38T>C
ENST00000703140.1:c.6138+38T>C ENSP00000515197.1:n.6138+38T>C
ENST00000703141.1:c.*1868+38T>C ENSP00000515198.1:n.*1868+38T>C
ENST00000703142.1:c.*3181+38T>C ENSP00000515199.1:n.*3181+38T>C
ENST00000361445.9:c.6351+38T>C MANE Select ENSP00000354558.4:n.6351+38T>C
ENST00000361445.8:c.6351+38T>C ENSP00000354558.4:n.6351+38T>C
ENST00000376838.5:c.966+38T>C ENSP00000366034.1:n.966+38T>C
NM_004958.3:c.6351+38T>C , LRG_734t1:c.6351+38T>C NP_004949.1:n.6351+38T>C
XM_005263438.1:c.6351+38T>C XP_005263495.1:n.6351+38T>C
XR_244786.1:n.6472+38T>C
XM_005263438.2:c.6351+38T>C XP_005263495.1:n.6351+38T>C
XM_017000900.1:c.5670+38T>C XP_016856389.1:n.5670+38T>C
XM_017000901.1:c.5103+38T>C XP_016856390.1:n.5103+38T>C
XM_024446187.1:c.6351+38T>C XP_024301955.1:n.6351+38T>C
XR_001737087.1:n.6472+38T>C
NM_004958.4:c.6351+38T>C MANE Select NP_004949.1:n.6351+38T>C
NM_001386500.1:c.6351+38T>C NP_001373429.1:n.6351+38T>C
NM_001386501.1:c.5103+38T>C NP_001373430.1:n.5103+38T>C