Canonical Allele Identifier: CA338400378
Gene: MTOR HGNC NCBI

Linked Data

ClinVar Variation Id: 2819967
ClinVar RCV Id: RCV003706542
gnomAD v4: 1-11248010-T-C
MyVariant Identifiers: chr1:g.11308067T>C (hg19) chr1:g.11248010T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11248010T>C , CM000663.2:g.11248010T>C GRCh38
NC_000001.10:g.11308067T>C , CM000663.1:g.11308067T>C GRCh37
NC_000001.9:g.11230654T>C NCBI36
NG_033239.1:g.19542A>G , LRG_734:g.19542A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.925A>G ENSP00000515181.1:p.Lys309Glu
ENST00000703132.1:n.906A>G
ENST00000703140.1:c.925A>G ENSP00000515197.1:p.Lys309Glu
ENST00000703141.1:c.925A>G ENSP00000515198.1:p.Lys309Glu
ENST00000703142.1:c.925A>G ENSP00000515199.1:p.Lys309Glu
ENST00000703143.1:c.925A>G ENSP00000515200.1:p.Lys309Glu
ENST00000361445.9:c.925A>G MANE Select ENSP00000354558.4:p.Lys309Glu
ENST00000361445.8:c.925A>G ENSP00000354558.4:p.Lys309Glu
NM_004958.3:c.925A>G , LRG_734t1:c.925A>G NP_004949.1:p.Lys309Glu
XM_005263438.1:c.925A>G XP_005263495.1:p.Lys309Glu
XM_011541166.1:c.925A>G XP_011539468.1:p.Lys309Glu
XR_244786.1:n.1046A>G
XM_005263438.2:c.925A>G XP_005263495.1:p.Lys309Glu
XM_011541166.2:c.925A>G XP_011539468.1:p.Lys309Glu
XM_017000900.1:c.244A>G XP_016856389.1:p.Lys82Glu
XM_017000901.1:c.-215A>G XP_016856390.1:n.-215A>G
XM_017000902.1:c.925A>G XP_016856391.1:p.Lys309Glu
XM_024446187.1:c.925A>G XP_024301955.1:p.Lys309Glu
XR_001737087.1:n.1046A>G
NM_004958.4:c.925A>G MANE Select NP_004949.1:p.Lys309Glu
NM_001386500.1:c.925A>G NP_001373429.1:p.Lys309Glu
NM_001386501.1:c.-215A>G NP_001373430.1:n.-215A>G
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