Canonical Allele Identifier: CA415913549
Gene: MTOR HGNC NCBI

Linked Data

dbSNP Id: rs1644344827
MyVariant Identifiers: chr1:g.11217217C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11157160C>T , CM000663.2:g.11157160C>T GRCh38
NC_000001.10:g.11217217C>T , CM000663.1:g.11217217C>T GRCh37
NC_000001.9:g.11139804C>T NCBI36
NG_033239.1:g.110392G>A , LRG_734:g.110392G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.4461G>A ENSP00000515181.1:p.Leu1487=
ENST00000703131.1:n.381G>A
ENST00000703140.1:c.4248G>A ENSP00000515197.1:p.Leu1416=
ENST00000703141.1:c.4461G>A ENSP00000515198.1:p.Leu1487=
ENST00000703142.1:c.*1291G>A ENSP00000515199.1:n.*1291G>A
ENST00000361445.9:c.4461G>A MANE Select ENSP00000354558.4:p.Leu1487=
ENST00000361445.8:c.4461G>A ENSP00000354558.4:p.Leu1487=
NM_004958.3:c.4461G>A , LRG_734t1:c.4461G>A NP_004949.1:p.Leu1487=
XM_005263438.1:c.4461G>A XP_005263495.1:p.Leu1487=
XM_011541166.1:c.4461G>A XP_011539468.1:p.Leu1487=
XR_244786.1:n.4582G>A
XM_005263438.2:c.4461G>A XP_005263495.1:p.Leu1487=
XM_011541166.2:c.4461G>A XP_011539468.1:p.Leu1487=
XM_017000900.1:c.3780G>A XP_016856389.1:p.Leu1260=
XM_017000901.1:c.3213G>A XP_016856390.1:p.Leu1071=
XM_024446187.1:c.4461G>A XP_024301955.1:p.Leu1487=
XR_001737087.1:n.4582G>A
NM_004958.4:c.4461G>A MANE Select NP_004949.1:p.Leu1487=
NM_001386500.1:c.4461G>A NP_001373429.1:p.Leu1487=
NM_001386501.1:c.3213G>A NP_001373430.1:p.Leu1071=