Canonical Allele Identifier: CA279594

Gene: MTOR

Linked Data

• ClinVar Variation Id: 217823
• ClinVar RCV Id: RCV000201885 ; RCV000255268 ; RCV000624365 ; RCV001003568 ; RCV001256976 ; RCV001329983 ; RCV001544505 ; RCV001260508 ; RCV003883143
• 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

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