Canonical Allele Identifier: CA338380764
Gene: MTOR HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11114338A>C , CM000663.2:g.11114338A>C GRCh38
NC_000001.10:g.11174395A>C , CM000663.1:g.11174395A>C GRCh37
NC_000001.9:g.11096982A>C NCBI36
NG_033239.1:g.153214T>G , LRG_734:g.153214T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.*2655T>G ENSP00000515181.1:n.*2655T>G
ENST00000703131.1:n.3198T>G
ENST00000703139.1:c.2068T>G
ENST00000703140.1:c.7067T>G ENSP00000515197.1:p.Leu2356Arg
ENST00000703141.1:c.*2797T>G ENSP00000515198.1:n.*2797T>G
ENST00000703142.1:c.*4110T>G ENSP00000515199.1:n.*4110T>G
ENST00000361445.9:c.7280T>G MANE Select ENSP00000354558.4:p.Leu2427Arg
ENST00000361445.8:c.7280T>G ENSP00000354558.4:p.Leu2427Arg
ENST00000376838.5:c.1895T>G ENSP00000366034.1:p.Leu632Arg
ENST00000455339.1:c.248T>G ENSP00000398745.1:p.Leu83Arg
ENST00000473471.5:n.292T>G
ENST00000490931.1:n.323T>G
NM_004958.3:c.7280T>G , LRG_734t1:c.7280T>G NP_004949.1:p.Leu2427Arg
XM_005263438.1:c.7280T>G XP_005263495.1:p.Leu2427Arg
XR_244786.1:n.7318T>G
XM_005263438.2:c.7280T>G XP_005263495.1:p.Leu2427Arg
XM_017000900.1:c.6599T>G XP_016856389.1:p.Leu2200Arg
XM_017000901.1:c.6032T>G XP_016856390.1:p.Leu2011Arg
XM_024446187.1:c.7280T>G XP_024301955.1:p.Leu2427Arg
XR_001737087.1:n.7318T>G
NM_004958.4:c.7280T>G MANE Select NP_004949.1:p.Leu2427Arg
NM_001386500.1:c.7280T>G NP_001373429.1:p.Leu2427Arg
NM_001386501.1:c.6032T>G NP_001373430.1:p.Leu2011Arg