Canonical Allele Identifier: CA338400906
Gene: MTOR HGNC NCBI

Linked Data

ClinVar Variation Id: 2813770
ClinVar RCV Id: RCV003680596
dbSNP Id: rs1257311632
gnomAD v3: 1-11248085-C-T
gnomAD v4: 1-11248085-C-T
MyVariant Identifiers: chr1:g.11308142C>T (hg19) chr1:g.11248085C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11248085C>T , CM000663.2:g.11248085C>T GRCh38
NC_000001.10:g.11308142C>T , CM000663.1:g.11308142C>T GRCh37
NC_000001.9:g.11230729C>T NCBI36
NG_033239.1:g.19467G>A , LRG_734:g.19467G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.850G>A ENSP00000515181.1:p.Glu284Lys
ENST00000703132.1:n.831G>A
ENST00000703140.1:c.850G>A ENSP00000515197.1:p.Glu284Lys
ENST00000703141.1:c.850G>A ENSP00000515198.1:p.Glu284Lys
ENST00000703142.1:c.850G>A ENSP00000515199.1:p.Glu284Lys
ENST00000703143.1:c.850G>A ENSP00000515200.1:p.Glu284Lys
ENST00000361445.9:c.850G>A MANE Select ENSP00000354558.4:p.Glu284Lys
ENST00000361445.8:c.850G>A ENSP00000354558.4:p.Glu284Lys
NM_004958.3:c.850G>A , LRG_734t1:c.850G>A NP_004949.1:p.Glu284Lys
XM_005263438.1:c.850G>A XP_005263495.1:p.Glu284Lys
XM_011541166.1:c.850G>A XP_011539468.1:p.Glu284Lys
XR_244786.1:n.971G>A
XM_005263438.2:c.850G>A XP_005263495.1:p.Glu284Lys
XM_011541166.2:c.850G>A XP_011539468.1:p.Glu284Lys
XM_017000900.1:c.169G>A XP_016856389.1:p.Glu57Lys
XM_017000901.1:c.-290G>A XP_016856390.1:n.-290G>A
XM_017000902.1:c.850G>A XP_016856391.1:p.Glu284Lys
XM_024446187.1:c.850G>A XP_024301955.1:p.Glu284Lys
XR_001737087.1:n.971G>A
NM_004958.4:c.850G>A MANE Select NP_004949.1:p.Glu284Lys
NM_001386500.1:c.850G>A NP_001373429.1:p.Glu284Lys
NM_001386501.1:c.-290G>A NP_001373430.1:n.-290G>A
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