Canonical Allele Identifier: CA590357
Community Standard Title: NM_004958.4(MTOR):c.2857G>A (p.Val953Met)
Gene: MTOR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11228841C>T , CM000663.2:g.11228841C>T GRCh38
NC_000001.10:g.11288898C>T , CM000663.1:g.11288898C>T GRCh37
NC_000001.9:g.11211485C>T NCBI36
NG_033239.1:g.38711G>A , LRG_734:g.38711G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004958.4:c.2857G>A MANE Select NP_004949.1:p.Val953Met
ENST00000361445.9:c.2857G>A MANE Select ENSP00000354558.4:p.Val953Met
NM_001386500.1:c.2857G>A NP_001373429.1:p.Val953Met
NM_001386501.1:c.1609G>A NP_001373430.1:p.Val537Met
NM_004958.3:c.2857G>A , LRG_734t1:c.2857G>A NP_004949.1:p.Val953Met
ENST00000361445.8:c.2857G>A ENSP00000354558.4:p.Val953Met
ENST00000703118.1:c.2857G>A ENSP00000515181.1:p.Val953Met
ENST00000703132.1:n.2729G>A
ENST00000703140.1:c.2644G>A ENSP00000515197.1:p.Val882Met
ENST00000703141.1:c.2857G>A ENSP00000515198.1:p.Val953Met
ENST00000703142.1:c.2641G>A ENSP00000515199.1:p.Val881Met
XM_005263438.1:c.2857G>A XP_005263495.1:p.Val953Met
XM_005263438.2:c.2857G>A XP_005263495.1:p.Val953Met
XM_011541166.1:c.2857G>A XP_011539468.1:p.Val953Met
XM_011541166.2:c.2857G>A XP_011539468.1:p.Val953Met
XM_017000900.1:c.2176G>A XP_016856389.1:p.Val726Met
XM_017000901.1:c.1609G>A XP_016856390.1:p.Val537Met
XM_017000902.1:c.2857G>A XP_016856391.1:p.Val953Met
XM_024446187.1:c.2857G>A XP_024301955.1:p.Val953Met
XR_001737087.1:n.2978G>A
XR_244786.1:n.2978G>A