Canonical Allele Identifier: CA590838
Gene: MTOR HGNC NCBI

Linked Data

dbSNP Id: rs747130357
gnomAD v2: 1-11308048-G-A
gnomAD v4: 1-11247991-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11247991G>A , CM000663.2:g.11247991G>A GRCh38
NC_000001.10:g.11308048G>A , CM000663.1:g.11308048G>A GRCh37
NC_000001.9:g.11230635G>A NCBI36
NG_033239.1:g.19561C>T , LRG_734:g.19561C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.944C>T ENSP00000515181.1:p.Pro315Leu
ENST00000703132.1:n.925C>T
ENST00000703140.1:c.944C>T ENSP00000515197.1:p.Pro315Leu
ENST00000703141.1:c.944C>T ENSP00000515198.1:p.Pro315Leu
ENST00000703142.1:c.944C>T ENSP00000515199.1:p.Pro315Leu
ENST00000703143.1:c.944C>T ENSP00000515200.1:p.Pro315Leu
ENST00000361445.9:c.944C>T MANE Select ENSP00000354558.4:p.Pro315Leu
ENST00000361445.8:c.944C>T ENSP00000354558.4:p.Pro315Leu
NM_004958.3:c.944C>T , LRG_734t1:c.944C>T NP_004949.1:p.Pro315Leu
XM_005263438.1:c.944C>T XP_005263495.1:p.Pro315Leu
XM_011541166.1:c.944C>T XP_011539468.1:p.Pro315Leu
XR_244786.1:n.1065C>T
XM_005263438.2:c.944C>T XP_005263495.1:p.Pro315Leu
XM_011541166.2:c.944C>T XP_011539468.1:p.Pro315Leu
XM_017000900.1:c.263C>T XP_016856389.1:p.Pro88Leu
XM_017000901.1:c.-196C>T XP_016856390.1:n.-196C>T
XM_017000902.1:c.944C>T XP_016856391.1:p.Pro315Leu
XM_024446187.1:c.944C>T XP_024301955.1:p.Pro315Leu
XR_001737087.1:n.1065C>T
NM_004958.4:c.944C>T MANE Select NP_004949.1:p.Pro315Leu
NM_001386500.1:c.944C>T NP_001373429.1:p.Pro315Leu
NM_001386501.1:c.-196C>T NP_001373430.1:n.-196C>T