Canonical Allele Identifier: CA588740
Gene: MTOR HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.11107089G>A
GRCh37 chr1:g.11167146G>A
gnomAD v2:
1:11167146 G / A
gnomAD v3:
1:11107089 G / A
gnomAD v4:
chr1-11107089-G-A
Joint Max Group AF 0.1071708 (SAS)
Genomes Max Group AF 0.11022897 (SAS)
Exomes Max Group AF 0.10654144 (SAS)
dbSNP:
12139042
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11107089G>A , CM000663.2:g.11107089G>A GRCh38
NC_000001.10:g.11167146G>A , CM000663.1:g.11167146G>A GRCh37
NC_000001.9:g.11089733G>A NCBI36
NG_033239.1:g.160463C>T , LRG_734:g.160463C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.*3421C>T ENSP00000515181.1:n.*3421C>T
ENST00000703131.1:n.3964C>T
ENST00000703139.1:c.2834C>T
ENST00000703140.1:c.*396C>T ENSP00000515197.1:n.*396C>T
ENST00000703141.1:c.*3563C>T ENSP00000515198.1:n.*3563C>T
ENST00000703142.1:c.*4876C>T ENSP00000515199.1:n.*4876C>T
ENST00000361445.9:c.*396C>T MANE Select ENSP00000354558.4:n.*396C>T
ENST00000361445.8:c.*396C>T ENSP00000354558.4:n.*396C>T
ENST00000376838.5:c.*396C>T ENSP00000366034.1:n.*396C>T
NM_004958.3:c.*396C>T , LRG_734t1:c.*396C>T NP_004949.1:n.*396C>T
XM_005263438.1:c.*396C>T XP_005263495.1:n.*396C>T
XM_005263438.2:c.*396C>T XP_005263495.1:n.*396C>T
XM_017000900.1:c.*396C>T XP_016856389.1:n.*396C>T
XM_017000901.1:c.*396C>T XP_016856390.1:n.*396C>T
XM_024446187.1:c.*396C>T XP_024301955.1:n.*396C>T
XR_001737087.1:n.8084C>T
NM_004958.4:c.*396C>T MANE Select NP_004949.1:n.*396C>T
NM_001386500.1:c.*396C>T NP_001373429.1:n.*396C>T
NM_001386501.1:c.*396C>T NP_001373430.1:n.*396C>T
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