Canonical Allele Identifier: CA338399926
Gene: MTOR HGNC NCBI

Linked Data

dbSNP Id: rs1649066225
gnomAD v4: 1-11247937-A-C
MyVariant Identifiers: chr1:g.11307994A>C (hg19) chr1:g.11247937A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11247937A>C , CM000663.2:g.11247937A>C GRCh38
NC_000001.10:g.11307994A>C , CM000663.1:g.11307994A>C GRCh37
NC_000001.9:g.11230581A>C NCBI36
NG_033239.1:g.19615T>G , LRG_734:g.19615T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.998T>G ENSP00000515181.1:p.Leu333Arg
ENST00000703132.1:n.979T>G
ENST00000703140.1:c.998T>G ENSP00000515197.1:p.Leu333Arg
ENST00000703141.1:c.998T>G ENSP00000515198.1:p.Leu333Arg
ENST00000703142.1:c.998T>G ENSP00000515199.1:p.Leu333Arg
ENST00000703143.1:c.998T>G ENSP00000515200.1:p.Leu333Arg
ENST00000361445.9:c.998T>G MANE Select ENSP00000354558.4:p.Leu333Arg
ENST00000361445.8:c.998T>G ENSP00000354558.4:p.Leu333Arg
NM_004958.3:c.998T>G , LRG_734t1:c.998T>G NP_004949.1:p.Leu333Arg
XM_005263438.1:c.998T>G XP_005263495.1:p.Leu333Arg
XM_011541166.1:c.998T>G XP_011539468.1:p.Leu333Arg
XR_244786.1:n.1119T>G
XM_005263438.2:c.998T>G XP_005263495.1:p.Leu333Arg
XM_011541166.2:c.998T>G XP_011539468.1:p.Leu333Arg
XM_017000900.1:c.317T>G XP_016856389.1:p.Leu106Arg
XM_017000901.1:c.-142T>G XP_016856390.1:n.-142T>G
XM_017000902.1:c.998T>G XP_016856391.1:p.Leu333Arg
XM_024446187.1:c.998T>G XP_024301955.1:p.Leu333Arg
XR_001737087.1:n.1119T>G
NM_004958.4:c.998T>G MANE Select NP_004949.1:p.Leu333Arg
NM_001386500.1:c.998T>G NP_001373429.1:p.Leu333Arg
NM_001386501.1:c.-142T>G NP_001373430.1:n.-142T>G
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