Canonical Allele Identifier: CA199563
Gene: MTOR HGNC NCBI

Linked Data

ClinVar Variation Id: 190121
dbSNP Id: rs786205165
COSMIC: COSM462616

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11157173C>A , CM000663.2:g.11157173C>A GRCh38
NC_000001.10:g.11217230C>A , CM000663.1:g.11217230C>A GRCh37
NC_000001.9:g.11139817C>A NCBI36
NG_033239.1:g.110379G>T , LRG_734:g.110379G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361445.9:c.4448G>T MANE Select ENSP00000354558.4:p.Cys1483Phe
ENST00000361445.8:c.4448G>T ENSP00000354558.4:p.Cys1483Phe
NM_004958.3:c.4448G>T , LRG_734t1:c.4448G>T NP_004949.1:p.Cys1483Phe
XM_005263438.1:c.4448G>T XP_005263495.1:p.Cys1483Phe
XM_011541166.1:c.4448G>T XP_011539468.1:p.Cys1483Phe
XR_244786.1:n.4569G>T
XM_005263438.2:c.4448G>T XP_005263495.1:p.Cys1483Phe
XM_011541166.2:c.4448G>T XP_011539468.1:p.Cys1483Phe
XM_017000900.1:c.3767G>T XP_016856389.1:p.Cys1256Phe
XM_017000901.1:c.3200G>T XP_016856390.1:p.Cys1067Phe
XM_024446187.1:c.4448G>T XP_024301955.1:p.Cys1483Phe
XR_001737087.1:n.4569G>T
NM_004958.4:c.4448G>T MANE Select NP_004949.1:p.Cys1483Phe
NM_001386500.1:c.4448G>T NP_001373429.1:p.Cys1483Phe
NM_001386501.1:c.3200G>T NP_001373430.1:p.Cys1067Phe