Canonical Allele Identifier: CA416042256
Gene: MTOR HGNC NCBI

Linked Data

dbSNP Id: rs1239235559
gnomAD v2: 1-11308143-T-C
gnomAD v4: 1-11248086-T-C
MyVariant Identifiers: chr1:g.11308143T>C (hg19) chr1:g.11248086T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11248086T>C , CM000663.2:g.11248086T>C GRCh38
NC_000001.10:g.11308143T>C , CM000663.1:g.11308143T>C GRCh37
NC_000001.9:g.11230730T>C NCBI36
NG_033239.1:g.19466A>G , LRG_734:g.19466A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.849A>G ENSP00000515181.1:p.Arg283=
ENST00000703132.1:n.830A>G
ENST00000703140.1:c.849A>G ENSP00000515197.1:p.Arg283=
ENST00000703141.1:c.849A>G ENSP00000515198.1:p.Arg283=
ENST00000703142.1:c.849A>G ENSP00000515199.1:p.Arg283=
ENST00000703143.1:c.849A>G ENSP00000515200.1:p.Arg283=
ENST00000361445.9:c.849A>G MANE Select ENSP00000354558.4:p.Arg283=
ENST00000361445.8:c.849A>G ENSP00000354558.4:p.Arg283=
NM_004958.3:c.849A>G , LRG_734t1:c.849A>G NP_004949.1:p.Arg283=
XM_005263438.1:c.849A>G XP_005263495.1:p.Arg283=
XM_011541166.1:c.849A>G XP_011539468.1:p.Arg283=
XR_244786.1:n.970A>G
XM_005263438.2:c.849A>G XP_005263495.1:p.Arg283=
XM_011541166.2:c.849A>G XP_011539468.1:p.Arg283=
XM_017000900.1:c.168A>G XP_016856389.1:p.Arg56=
XM_017000901.1:c.-291A>G XP_016856390.1:n.-291A>G
XM_017000902.1:c.849A>G XP_016856391.1:p.Arg283=
XM_024446187.1:c.849A>G XP_024301955.1:p.Arg283=
XR_001737087.1:n.970A>G
NM_004958.4:c.849A>G MANE Select NP_004949.1:p.Arg283=
NM_001386500.1:c.849A>G NP_001373429.1:p.Arg283=
NM_001386501.1:c.-291A>G NP_001373430.1:n.-291A>G
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