Canonical Allele Identifier: CA248390
Gene: MTOR HGNC NCBI

Linked Data

ClinVar Variation Id: 156702
ClinVar RCV Id: RCV000190280 RCV001836736 RCV002272139
dbSNP Id: rs587777893
COSMIC: COSM462601
MyVariant Identifiers: chr1:g.11188164G>T (hg19) chr1:g.11128107G>T (hg38)
ERepo: CA248390/MONDO:0016054/018 CA248390/MONDO:0100283/018
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11128107G>T , CM000663.2:g.11128107G>T GRCh38
NC_000001.10:g.11188164G>T , CM000663.1:g.11188164G>T GRCh37
NC_000001.9:g.11110751G>T NCBI36
NG_033239.1:g.139445C>A , LRG_734:g.139445C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.*1305C>A ENSP00000515181.1:n.*1305C>A
ENST00000703131.1:n.1734C>A
ENST00000703139.1:c.567C>A
ENST00000703140.1:c.5717C>A ENSP00000515197.1:p.Thr1906Lys
ENST00000703141.1:c.*1250C>A ENSP00000515198.1:n.*1250C>A
ENST00000703142.1:c.*2760C>A ENSP00000515199.1:n.*2760C>A
ENST00000361445.9:c.5930C>A MANE Select ENSP00000354558.4:p.Thr1977Lys
ENST00000361445.8:c.5930C>A ENSP00000354558.4:p.Thr1977Lys
ENST00000376838.5:c.545C>A ENSP00000366034.1:p.Thr182Lys
NM_004958.3:c.5930C>A , LRG_734t1:c.5930C>A NP_004949.1:p.Thr1977Lys
XM_005263438.1:c.5930C>A XP_005263495.1:p.Thr1977Lys
XR_244786.1:n.6051C>A
XM_005263438.2:c.5930C>A XP_005263495.1:p.Thr1977Lys
XM_017000900.1:c.5249C>A XP_016856389.1:p.Thr1750Lys
XM_017000901.1:c.4682C>A XP_016856390.1:p.Thr1561Lys
XM_024446187.1:c.5930C>A XP_024301955.1:p.Thr1977Lys
XR_001737087.1:n.6051C>A
NM_004958.4:c.5930C>A MANE Select NP_004949.1:p.Thr1977Lys
NM_001386500.1:c.5930C>A NP_001373429.1:p.Thr1977Lys
NM_001386501.1:c.4682C>A NP_001373430.1:p.Thr1561Lys
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