Canonical Allele Identifier: CA338399869
Gene: MTOR HGNC NCBI

Linked Data

gnomAD v4: 1-11247925-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11247925C>A , CM000663.2:g.11247925C>A GRCh38
NC_000001.10:g.11307982C>A , CM000663.1:g.11307982C>A GRCh37
NC_000001.9:g.11230569C>A NCBI36
NG_033239.1:g.19627G>T , LRG_734:g.19627G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.1010G>T ENSP00000515181.1:p.Ser337Ile
ENST00000703132.1:n.991G>T
ENST00000703140.1:c.1010G>T ENSP00000515197.1:p.Ser337Ile
ENST00000703141.1:c.1010G>T ENSP00000515198.1:p.Ser337Ile
ENST00000703142.1:c.1010G>T ENSP00000515199.1:p.Ser337Ile
ENST00000703143.1:c.1010G>T ENSP00000515200.1:p.Ser337Ile
ENST00000361445.9:c.1010G>T MANE Select ENSP00000354558.4:p.Ser337Ile
ENST00000361445.8:c.1010G>T ENSP00000354558.4:p.Ser337Ile
NM_004958.3:c.1010G>T , LRG_734t1:c.1010G>T NP_004949.1:p.Ser337Ile
XM_005263438.1:c.1010G>T XP_005263495.1:p.Ser337Ile
XM_011541166.1:c.1010G>T XP_011539468.1:p.Ser337Ile
XR_244786.1:n.1131G>T
XM_005263438.2:c.1010G>T XP_005263495.1:p.Ser337Ile
XM_011541166.2:c.1010G>T XP_011539468.1:p.Ser337Ile
XM_017000900.1:c.329G>T XP_016856389.1:p.Ser110Ile
XM_017000901.1:c.-130G>T XP_016856390.1:n.-130G>T
XM_017000902.1:c.1010G>T XP_016856391.1:p.Ser337Ile
XM_024446187.1:c.1010G>T XP_024301955.1:p.Ser337Ile
XR_001737087.1:n.1131G>T
NM_004958.4:c.1010G>T MANE Select NP_004949.1:p.Ser337Ile
NM_001386500.1:c.1010G>T NP_001373429.1:p.Ser337Ile
NM_001386501.1:c.-130G>T NP_001373430.1:n.-130G>T