Canonical Allele Identifier: CA16602587
Gene: MTOR HGNC NCBI

Linked Data

ClinVar Variation Id: 376129
ClinVar RCV Id: RCV001836814
dbSNP Id: rs587777894
COSMIC: COSM20417
MyVariant Identifiers: chr1:g.11184573G>T (hg19) chr1:g.11124516G>T (hg38)
CIViC: CA16602587
ERepo: CA16602587/MONDO:0016054/018 CA16602587/MONDO:0100283/018
PubMed: PMID:24631838 PMID:26018084 PMID:26619011 PMID:27159400
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11124516G>T , CM000663.2:g.11124516G>T GRCh38
NC_000001.10:g.11184573G>T , CM000663.1:g.11184573G>T GRCh37
NC_000001.9:g.11107160G>T NCBI36
NG_033239.1:g.143036C>A , LRG_734:g.143036C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703118.1:c.*2019C>A ENSP00000515181.1:n.*2019C>A
ENST00000703131.1:n.2645C>A
ENST00000703139.1:c.1281C>A
ENST00000703140.1:c.6431C>A ENSP00000515197.1:p.Ser2144Tyr
ENST00000703141.1:c.*2161C>A ENSP00000515198.1:n.*2161C>A
ENST00000703142.1:c.*3474C>A ENSP00000515199.1:n.*3474C>A
ENST00000361445.9:c.6644C>A MANE Select ENSP00000354558.4:p.Ser2215Tyr
ENST00000361445.8:c.6644C>A ENSP00000354558.4:p.Ser2215Tyr
ENST00000376838.5:c.1259C>A ENSP00000366034.1:p.Ser420Tyr
NM_004958.3:c.6644C>A , LRG_734t1:c.6644C>A NP_004949.1:p.Ser2215Tyr
XM_005263438.1:c.6644C>A XP_005263495.1:p.Ser2215Tyr
XR_244786.1:n.6765C>A
XM_005263438.2:c.6644C>A XP_005263495.1:p.Ser2215Tyr
XM_017000900.1:c.5963C>A XP_016856389.1:p.Ser1988Tyr
XM_017000901.1:c.5396C>A XP_016856390.1:p.Ser1799Tyr
XM_024446187.1:c.6644C>A XP_024301955.1:p.Ser2215Tyr
XR_001737087.1:n.6765C>A
NM_004958.4:c.6644C>A MANE Select NP_004949.1:p.Ser2215Tyr
NM_001386500.1:c.6644C>A NP_001373429.1:p.Ser2215Tyr
NM_001386501.1:c.5396C>A NP_001373430.1:p.Ser1799Tyr
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