Canonical Allele Identifier: CA248407

Gene: MTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11114363C>T , CM000663.2:g.11114363C>T	GRCh38
NC_000001.10:g.11174420C>T , CM000663.1:g.11174420C>T	GRCh37
NC_000001.9:g.11097007C>T	NCBI36
NG_033239.1:g.153189G>A , LRG_734:g.153189G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2630G>A	ENSP00000515181.1:n.*2630G>A
ENST00000703131.1:n.3173G>A
ENST00000703139.1:c.2043G>A
ENST00000703140.1:c.7042G>A	ENSP00000515197.1:p.Glu2348Lys
ENST00000703141.1:c.*2772G>A	ENSP00000515198.1:n.*2772G>A
ENST00000703142.1:c.*4085G>A	ENSP00000515199.1:n.*4085G>A
ENST00000361445.9:c.7255G>A MANE Select	ENSP00000354558.4:p.Glu2419Lys
ENST00000361445.8:c.7255G>A	ENSP00000354558.4:p.Glu2419Lys
ENST00000376838.5:c.1870G>A	ENSP00000366034.1:p.Glu624Lys
ENST00000455339.1:c.223G>A	ENSP00000398745.1:p.Glu75Lys
ENST00000473471.5:n.267G>A
ENST00000490931.1:n.298G>A
NM_004958.3:c.7255G>A , LRG_734t1:c.7255G>A	NP_004949.1:p.Glu2419Lys
XM_005263438.1:c.7255G>A	XP_005263495.1:p.Glu2419Lys
XR_244786.1:n.7293G>A
XM_005263438.2:c.7255G>A	XP_005263495.1:p.Glu2419Lys
XM_017000900.1:c.6574G>A	XP_016856389.1:p.Glu2192Lys
XM_017000901.1:c.6007G>A	XP_016856390.1:p.Glu2003Lys
XM_024446187.1:c.7255G>A	XP_024301955.1:p.Glu2419Lys
XR_001737087.1:n.7293G>A
NM_004958.4:c.7255G>A MANE Select	NP_004949.1:p.Glu2419Lys
NM_001386500.1:c.7255G>A	NP_001373429.1:p.Glu2419Lys
NM_001386501.1:c.6007G>A	NP_001373430.1:p.Glu2003Lys