Canonical Allele Identifier: CA415916550
Gene: MTOR HGNC NCBI

Linked Data

dbSNP Id: rs2100287051
MyVariant Identifiers: chr1:g.11169390C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11109333C>T , CM000663.2:g.11109333C>T GRCh38
NC_000001.10:g.11169390C>T , CM000663.1:g.11169390C>T GRCh37
NC_000001.9:g.11091977C>T NCBI36
NG_033239.1:g.158219G>A , LRG_734:g.158219G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.*2860G>A ENSP00000515181.1:n.*2860G>A
ENST00000703131.1:n.3403G>A
ENST00000703139.1:c.2273G>A
ENST00000703140.1:c.7272G>A ENSP00000515197.1:p.Lys2424=
ENST00000703141.1:c.*3002G>A ENSP00000515198.1:n.*3002G>A
ENST00000703142.1:c.*4315G>A ENSP00000515199.1:n.*4315G>A
ENST00000361445.9:c.7485G>A MANE Select ENSP00000354558.4:p.Lys2495=
ENST00000361445.8:c.7485G>A ENSP00000354558.4:p.Lys2495=
ENST00000376838.5:c.2100G>A ENSP00000366034.1:p.Lys700=
ENST00000455339.1:c.453G>A ENSP00000398745.1:p.Lys151=
ENST00000473471.5:n.497G>A
ENST00000490931.1:n.768G>A
NM_004958.3:c.7485G>A , LRG_734t1:c.7485G>A NP_004949.1:p.Lys2495=
XM_005263438.1:c.7485G>A XP_005263495.1:p.Lys2495=
XM_005263438.2:c.7485G>A XP_005263495.1:p.Lys2495=
XM_017000900.1:c.6804G>A XP_016856389.1:p.Lys2268=
XM_017000901.1:c.6237G>A XP_016856390.1:p.Lys2079=
XM_024446187.1:c.7485G>A XP_024301955.1:p.Lys2495=
XR_001737087.1:n.7523G>A
NM_004958.4:c.7485G>A MANE Select NP_004949.1:p.Lys2495=
NM_001386500.1:c.7485G>A NP_001373429.1:p.Lys2495=
NM_001386501.1:c.6237G>A NP_001373430.1:p.Lys2079=