Canonical Allele Identifier: CA279594
Gene: MTOR HGNC NCBI

Linked Data

ClinVar Variation Id: 217823
ClinVar RCV Id: RCV000201885 RCV000255268 RCV000624365 RCV001003568 RCV001256976 RCV001260508 RCV001329983 RCV001544505
dbSNP Id: rs863225264
gnomAD v2: 1-11190804-C-T
gnomAD v4: 1-11130747-C-T
COSMIC: COSM180789
MyVariant Identifiers: chr1:g.11190804C>T (hg19) chr1:g.11130747C>T (hg38)
CIViC: CA279594
PubMed: PMID:7550332 PMID:7809080 PMID:8660990 PMID:9326330 PMID:11092830 PMID:12974736 PMID:15254238 PMID:15314020 PMID:15467718 PMID:15755954 PMID:15805158 PMID:16647875 PMID:17286265 PMID:18354181 PMID:19854944 PMID:19963289 PMID:20731814 PMID:22023617 PMID:22053105 PMID:22552098 PMID:22654878 PMID:22729223 PMID:23161681 PMID:23209702 PMID:23516405 PMID:23555892 PMID:23934111 PMID:24497577 PMID:25473036 PMID:25533962 PMID:25599672 PMID:25851998 PMID:27159400 PMID:27753196 PMID:28135719 PMID:28892148
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11130747C>T , CM000663.2:g.11130747C>T GRCh38
NC_000001.10:g.11190804C>T , CM000663.1:g.11190804C>T GRCh37
NC_000001.9:g.11113391C>T NCBI36
NG_033239.1:g.136805G>A , LRG_734:g.136805G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703118.1:c.*770G>A ENSP00000515181.1:n.*770G>A
ENST00000703131.1:n.1199G>A
ENST00000703139.1:c.32G>A
ENST00000703140.1:c.5182G>A ENSP00000515197.1:p.Glu1728Lys
ENST00000703141.1:c.*715G>A ENSP00000515198.1:n.*715G>A
ENST00000703142.1:c.*2225G>A ENSP00000515199.1:n.*2225G>A
ENST00000361445.9:c.5395G>A MANE Select ENSP00000354558.4:p.Glu1799Lys
ENST00000361445.8:c.5395G>A ENSP00000354558.4:p.Glu1799Lys
ENST00000376838.5:c.10G>A ENSP00000366034.1:p.Glu4Lys
NM_004958.3:c.5395G>A , LRG_734t1:c.5395G>A NP_004949.1:p.Glu1799Lys
XM_005263438.1:c.5395G>A XP_005263495.1:p.Glu1799Lys
XR_244786.1:n.5516G>A
XM_005263438.2:c.5395G>A XP_005263495.1:p.Glu1799Lys
XM_017000900.1:c.4714G>A XP_016856389.1:p.Glu1572Lys
XM_017000901.1:c.4147G>A XP_016856390.1:p.Glu1383Lys
XM_024446187.1:c.5395G>A XP_024301955.1:p.Glu1799Lys
XR_001737087.1:n.5516G>A
NM_004958.4:c.5395G>A MANE Select NP_004949.1:p.Glu1799Lys
NM_001386500.1:c.5395G>A NP_001373429.1:p.Glu1799Lys
NM_001386501.1:c.4147G>A NP_001373430.1:p.Glu1383Lys
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