Canonical Allele Identifier: CA2643239189
Gene: MTOR HGNC NCBI

Linked Data

dbSNP Id: rs2100285558
gnomAD v4: 1-11109221-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11109221A>G , CM000663.2:g.11109221A>G GRCh38
NC_000001.10:g.11169278A>G , CM000663.1:g.11169278A>G GRCh37
NC_000001.9:g.11091865A>G NCBI36
NG_033239.1:g.158331T>C , LRG_734:g.158331T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.*2903+69T>C ENSP00000515181.1:n.*2903+69T>C
ENST00000703131.1:n.3446+69T>C
ENST00000703139.1:c.2316+69T>C
ENST00000703140.1:c.7315+69T>C ENSP00000515197.1:n.7315+69T>C
ENST00000703141.1:c.*3045+69T>C ENSP00000515198.1:n.*3045+69T>C
ENST00000703142.1:c.*4358+69T>C ENSP00000515199.1:n.*4358+69T>C
ENST00000361445.9:c.7528+69T>C MANE Select ENSP00000354558.4:n.7528+69T>C
ENST00000361445.8:c.7528+69T>C ENSP00000354558.4:n.7528+69T>C
ENST00000376838.5:c.2143+69T>C ENSP00000366034.1:n.2143+69T>C
ENST00000473471.5:n.540+69T>C
ENST00000490931.1:n.811+69T>C
NM_004958.3:c.7528+69T>C , LRG_734t1:c.7528+69T>C NP_004949.1:n.7528+69T>C
XM_005263438.1:c.7528+69T>C XP_005263495.1:n.7528+69T>C
XM_005263438.2:c.7528+69T>C XP_005263495.1:n.7528+69T>C
XM_017000900.1:c.6847+69T>C XP_016856389.1:n.6847+69T>C
XM_017000901.1:c.6280+69T>C XP_016856390.1:n.6280+69T>C
XM_024446187.1:c.7528+69T>C XP_024301955.1:n.7528+69T>C
XR_001737087.1:n.7566+69T>C
NM_004958.4:c.7528+69T>C MANE Select NP_004949.1:n.7528+69T>C
NM_001386500.1:c.7528+69T>C NP_001373429.1:n.7528+69T>C
NM_001386501.1:c.6280+69T>C NP_001373430.1:n.6280+69T>C