Canonical Allele Identifier: CA416041959
Gene: MTOR HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11307993C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11247936C>G , CM000663.2:g.11247936C>G GRCh38
NC_000001.10:g.11307993C>G , CM000663.1:g.11307993C>G GRCh37
NC_000001.9:g.11230580C>G NCBI36
NG_033239.1:g.19616G>C , LRG_734:g.19616G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.999G>C ENSP00000515181.1:p.Leu333=
ENST00000703132.1:n.980G>C
ENST00000703140.1:c.999G>C ENSP00000515197.1:p.Leu333=
ENST00000703141.1:c.999G>C ENSP00000515198.1:p.Leu333=
ENST00000703142.1:c.999G>C ENSP00000515199.1:p.Leu333=
ENST00000703143.1:c.999G>C ENSP00000515200.1:p.Leu333=
ENST00000361445.9:c.999G>C MANE Select ENSP00000354558.4:p.Leu333=
ENST00000361445.8:c.999G>C ENSP00000354558.4:p.Leu333=
NM_004958.3:c.999G>C , LRG_734t1:c.999G>C NP_004949.1:p.Leu333=
XM_005263438.1:c.999G>C XP_005263495.1:p.Leu333=
XM_011541166.1:c.999G>C XP_011539468.1:p.Leu333=
XR_244786.1:n.1120G>C
XM_005263438.2:c.999G>C XP_005263495.1:p.Leu333=
XM_011541166.2:c.999G>C XP_011539468.1:p.Leu333=
XM_017000900.1:c.318G>C XP_016856389.1:p.Leu106=
XM_017000901.1:c.-141G>C XP_016856390.1:n.-141G>C
XM_017000902.1:c.999G>C XP_016856391.1:p.Leu333=
XM_024446187.1:c.999G>C XP_024301955.1:p.Leu333=
XR_001737087.1:n.1120G>C
NM_004958.4:c.999G>C MANE Select NP_004949.1:p.Leu333=
NM_001386500.1:c.999G>C NP_001373429.1:p.Leu333=
NM_001386501.1:c.-141G>C NP_001373430.1:n.-141G>C