Canonical Allele Identifier: CA338372045
Gene: MTOR HGNC NCBI

Linked Data

ClinVar Variation Id: 417727
ClinVar RCV Id: RCV000477684
dbSNP Id: rs1085307114

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11157255A>C , CM000663.2:g.11157255A>C GRCh38
NC_000001.10:g.11217312A>C , CM000663.1:g.11217312A>C GRCh37
NC_000001.9:g.11139899A>C NCBI36
NG_033239.1:g.110297T>G , LRG_734:g.110297T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.4366T>G ENSP00000515181.1:p.Trp1456Gly
ENST00000703131.1:n.286T>G
ENST00000703140.1:c.4153T>G ENSP00000515197.1:p.Trp1385Gly
ENST00000703141.1:c.4366T>G ENSP00000515198.1:p.Trp1456Gly
ENST00000703142.1:c.*1196T>G ENSP00000515199.1:n.*1196T>G
ENST00000361445.9:c.4366T>G MANE Select ENSP00000354558.4:p.Trp1456Gly
ENST00000361445.8:c.4366T>G ENSP00000354558.4:p.Trp1456Gly
NM_004958.3:c.4366T>G , LRG_734t1:c.4366T>G NP_004949.1:p.Trp1456Gly
XM_005263438.1:c.4366T>G XP_005263495.1:p.Trp1456Gly
XM_011541166.1:c.4366T>G XP_011539468.1:p.Trp1456Gly
XR_244786.1:n.4487T>G
XM_005263438.2:c.4366T>G XP_005263495.1:p.Trp1456Gly
XM_011541166.2:c.4366T>G XP_011539468.1:p.Trp1456Gly
XM_017000900.1:c.3685T>G XP_016856389.1:p.Trp1229Gly
XM_017000901.1:c.3118T>G XP_016856390.1:p.Trp1040Gly
XM_024446187.1:c.4366T>G XP_024301955.1:p.Trp1456Gly
XR_001737087.1:n.4487T>G
NM_004958.4:c.4366T>G MANE Select NP_004949.1:p.Trp1456Gly
NM_001386500.1:c.4366T>G NP_001373429.1:p.Trp1456Gly
NM_001386501.1:c.3118T>G NP_001373430.1:p.Trp1040Gly