Canonical Allele Identifier: CA1148224170
Community Standard Title: NM_004958.4(MTOR):c.7255G= (p.Glu2419=)
Gene: MTOR HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_004958.4:c.7255G= MANE Select NP_004949.1:p.Glu2419=
ENST00000361445.9:c.7255G= MANE Select ENSP00000354558.4:p.Glu2419=
NM_001386500.1:c.7255G= NP_001373429.1:p.Glu2419=
NM_001386501.1:c.6007G= NP_001373430.1:p.Glu2003=
NM_004958.3:c.7255G= , LRG_734t1:c.7255G= NP_004949.1:p.Glu2419=
ENST00000361445.8:c.7255G= ENSP00000354558.4:p.Glu2419=
ENST00000376838.5:c.1870G= ENSP00000366034.1:p.Glu624=
ENST00000455339.1:c.223G= ENSP00000398745.1:p.Glu75=
ENST00000473471.5:n.267G=
ENST00000490931.1:n.298G=
ENST00000703118.1:c.*2630G= ENSP00000515181.1:n.*2630G=
ENST00000703131.1:n.3173G=
ENST00000703139.1:c.2043G=
ENST00000703140.1:c.7042G= ENSP00000515197.1:p.Glu2348=
ENST00000703141.1:c.*2772G= ENSP00000515198.1:n.*2772G=
ENST00000703142.1:c.*4085G= ENSP00000515199.1:n.*4085G=
XM_005263438.1:c.7255G= XP_005263495.1:p.Glu2419=
XM_005263438.2:c.7255G= XP_005263495.1:p.Glu2419=
XM_017000900.1:c.6574G= XP_016856389.1:p.Glu2192=
XM_017000901.1:c.6007G= XP_016856390.1:p.Glu2003=
XM_024446187.1:c.7255G= XP_024301955.1:p.Glu2419=
XR_001737087.1:n.7293G=
XR_244786.1:n.7293G=