Canonical Allele Identifier: CA16602588
Gene: MTOR HGNC NCBI

Linked Data

ClinVar Variation Id: 376130
ClinVar RCV Id: RCV000422999 RCV000477729 RCV001836815
dbSNP Id: rs1057519779
COSMIC: COSM462618
MyVariant Identifiers: chr1:g.11217299A>G (hg19) chr1:g.11157242A>G (hg38)
ERepo: CA16602588/MONDO:0016054/018 CA16602588/MONDO:0100283/018
PubMed: PMID:24631838 PMID:26018084
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11157242A>G , CM000663.2:g.11157242A>G GRCh38
NC_000001.10:g.11217299A>G , CM000663.1:g.11217299A>G GRCh37
NC_000001.9:g.11139886A>G NCBI36
NG_033239.1:g.110310T>C , LRG_734:g.110310T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703118.1:c.4379T>C ENSP00000515181.1:p.Leu1460Pro
ENST00000703131.1:n.299T>C
ENST00000703140.1:c.4166T>C ENSP00000515197.1:p.Leu1389Pro
ENST00000703141.1:c.4379T>C ENSP00000515198.1:p.Leu1460Pro
ENST00000703142.1:c.*1209T>C ENSP00000515199.1:n.*1209T>C
ENST00000361445.9:c.4379T>C MANE Select ENSP00000354558.4:p.Leu1460Pro
ENST00000361445.8:c.4379T>C ENSP00000354558.4:p.Leu1460Pro
NM_004958.3:c.4379T>C , LRG_734t1:c.4379T>C NP_004949.1:p.Leu1460Pro
XM_005263438.1:c.4379T>C XP_005263495.1:p.Leu1460Pro
XM_011541166.1:c.4379T>C XP_011539468.1:p.Leu1460Pro
XR_244786.1:n.4500T>C
XM_005263438.2:c.4379T>C XP_005263495.1:p.Leu1460Pro
XM_011541166.2:c.4379T>C XP_011539468.1:p.Leu1460Pro
XM_017000900.1:c.3698T>C XP_016856389.1:p.Leu1233Pro
XM_017000901.1:c.3131T>C XP_016856390.1:p.Leu1044Pro
XM_024446187.1:c.4379T>C XP_024301955.1:p.Leu1460Pro
XR_001737087.1:n.4500T>C
NM_004958.4:c.4379T>C MANE Select NP_004949.1:p.Leu1460Pro
NM_001386500.1:c.4379T>C NP_001373429.1:p.Leu1460Pro
NM_001386501.1:c.3131T>C NP_001373430.1:p.Leu1044Pro
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