Canonical Allele Identifier: CA416041936
Gene: MTOR HGNC NCBI

Linked Data

ClinVar Variation Id: 1522895
ClinVar RCV Id: RCV002036349
dbSNP Id: rs2100939633
gnomAD v4: 1-11247819-C-T
MyVariant Identifiers: chr1:g.11307876C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11247819C>T , CM000663.2:g.11247819C>T GRCh38
NC_000001.10:g.11307876C>T , CM000663.1:g.11307876C>T GRCh37
NC_000001.9:g.11230463C>T NCBI36
NG_033239.1:g.19733G>A , LRG_734:g.19733G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.1116G>A ENSP00000515181.1:p.Gln372=
ENST00000703132.1:n.1097G>A
ENST00000703140.1:c.1116G>A ENSP00000515197.1:p.Gln372=
ENST00000703141.1:c.1116G>A ENSP00000515198.1:p.Gln372=
ENST00000703142.1:c.1116G>A ENSP00000515199.1:p.Gln372=
ENST00000703143.1:c.1116G>A ENSP00000515200.1:p.Gln372=
ENST00000703144.1:n.86G>A
ENST00000361445.9:c.1116G>A MANE Select ENSP00000354558.4:p.Gln372=
ENST00000361445.8:c.1116G>A ENSP00000354558.4:p.Gln372=
NM_004958.3:c.1116G>A , LRG_734t1:c.1116G>A NP_004949.1:p.Gln372=
XM_005263438.1:c.1116G>A XP_005263495.1:p.Gln372=
XM_011541166.1:c.1116G>A XP_011539468.1:p.Gln372=
XR_244786.1:n.1237G>A
XM_005263438.2:c.1116G>A XP_005263495.1:p.Gln372=
XM_011541166.2:c.1116G>A XP_011539468.1:p.Gln372=
XM_017000900.1:c.435G>A XP_016856389.1:p.Gln145=
XM_017000901.1:c.-24G>A XP_016856390.1:n.-24G>A
XM_017000902.1:c.1116G>A XP_016856391.1:p.Gln372=
XM_024446187.1:c.1116G>A XP_024301955.1:p.Gln372=
XR_001737087.1:n.1237G>A
NM_004958.4:c.1116G>A MANE Select NP_004949.1:p.Gln372=
NM_001386500.1:c.1116G>A NP_001373429.1:p.Gln372=
NM_001386501.1:c.-24G>A NP_001373430.1:n.-24G>A
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