Canonical Allele Identifier: CA338399918
Gene: MTOR HGNC NCBI

Linked Data

dbSNP Id: rs2100940259
MyVariant Identifiers: chr1:g.11307992G>C (hg19) chr1:g.11247935G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11247935G>C , CM000663.2:g.11247935G>C GRCh38
NC_000001.10:g.11307992G>C , CM000663.1:g.11307992G>C GRCh37
NC_000001.9:g.11230579G>C NCBI36
NG_033239.1:g.19617C>G , LRG_734:g.19617C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.1000C>G ENSP00000515181.1:p.Leu334Val
ENST00000703132.1:n.981C>G
ENST00000703140.1:c.1000C>G ENSP00000515197.1:p.Leu334Val
ENST00000703141.1:c.1000C>G ENSP00000515198.1:p.Leu334Val
ENST00000703142.1:c.1000C>G ENSP00000515199.1:p.Leu334Val
ENST00000703143.1:c.1000C>G ENSP00000515200.1:p.Leu334Val
ENST00000361445.9:c.1000C>G MANE Select ENSP00000354558.4:p.Leu334Val
ENST00000361445.8:c.1000C>G ENSP00000354558.4:p.Leu334Val
NM_004958.3:c.1000C>G , LRG_734t1:c.1000C>G NP_004949.1:p.Leu334Val
XM_005263438.1:c.1000C>G XP_005263495.1:p.Leu334Val
XM_011541166.1:c.1000C>G XP_011539468.1:p.Leu334Val
XR_244786.1:n.1121C>G
XM_005263438.2:c.1000C>G XP_005263495.1:p.Leu334Val
XM_011541166.2:c.1000C>G XP_011539468.1:p.Leu334Val
XM_017000900.1:c.319C>G XP_016856389.1:p.Leu107Val
XM_017000901.1:c.-140C>G XP_016856390.1:n.-140C>G
XM_017000902.1:c.1000C>G XP_016856391.1:p.Leu334Val
XM_024446187.1:c.1000C>G XP_024301955.1:p.Leu334Val
XR_001737087.1:n.1121C>G
NM_004958.4:c.1000C>G MANE Select NP_004949.1:p.Leu334Val
NM_001386500.1:c.1000C>G NP_001373429.1:p.Leu334Val
NM_001386501.1:c.-140C>G NP_001373430.1:n.-140C>G
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