Canonical Allele Identifier: CA338399939
Gene: MTOR HGNC NCBI

Linked Data

gnomAD v4: 1-11247940-C-T
MyVariant Identifiers: chr1:g.11307997C>T (hg19) chr1:g.11247940C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11247940C>T , CM000663.2:g.11247940C>T GRCh38
NC_000001.10:g.11307997C>T , CM000663.1:g.11307997C>T GRCh37
NC_000001.9:g.11230584C>T NCBI36
NG_033239.1:g.19612G>A , LRG_734:g.19612G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.995G>A ENSP00000515181.1:p.Gly332Glu
ENST00000703132.1:n.976G>A
ENST00000703140.1:c.995G>A ENSP00000515197.1:p.Gly332Glu
ENST00000703141.1:c.995G>A ENSP00000515198.1:p.Gly332Glu
ENST00000703142.1:c.995G>A ENSP00000515199.1:p.Gly332Glu
ENST00000703143.1:c.995G>A ENSP00000515200.1:p.Gly332Glu
ENST00000361445.9:c.995G>A MANE Select ENSP00000354558.4:p.Gly332Glu
ENST00000361445.8:c.995G>A ENSP00000354558.4:p.Gly332Glu
NM_004958.3:c.995G>A , LRG_734t1:c.995G>A NP_004949.1:p.Gly332Glu
XM_005263438.1:c.995G>A XP_005263495.1:p.Gly332Glu
XM_011541166.1:c.995G>A XP_011539468.1:p.Gly332Glu
XR_244786.1:n.1116G>A
XM_005263438.2:c.995G>A XP_005263495.1:p.Gly332Glu
XM_011541166.2:c.995G>A XP_011539468.1:p.Gly332Glu
XM_017000900.1:c.314G>A XP_016856389.1:p.Gly105Glu
XM_017000901.1:c.-145G>A XP_016856390.1:n.-145G>A
XM_017000902.1:c.995G>A XP_016856391.1:p.Gly332Glu
XM_024446187.1:c.995G>A XP_024301955.1:p.Gly332Glu
XR_001737087.1:n.1116G>A
NM_004958.4:c.995G>A MANE Select NP_004949.1:p.Gly332Glu
NM_001386500.1:c.995G>A NP_001373429.1:p.Gly332Glu
NM_001386501.1:c.-145G>A NP_001373430.1:n.-145G>A
Search 100 bp 5'
Search 100 bp 3'