Canonical Allele Identifier: CA590815
Gene: MTOR HGNC NCBI

Linked Data

dbSNP Id: rs755489314
ExAC: 1:11307894 C / T
gnomAD v2: 1-11307894-C-T
gnomAD v4: 1-11247837-C-T
MyVariant Identifiers: chr1:g.11307894C>T (hg19) chr1:g.11247837C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11247837C>T , CM000663.2:g.11247837C>T GRCh38
NC_000001.10:g.11307894C>T , CM000663.1:g.11307894C>T GRCh37
NC_000001.9:g.11230481C>T NCBI36
NG_033239.1:g.19715G>A , LRG_734:g.19715G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.1098G>A ENSP00000515181.1:p.Met366Ile
ENST00000703132.1:n.1079G>A
ENST00000703140.1:c.1098G>A ENSP00000515197.1:p.Met366Ile
ENST00000703141.1:c.1098G>A ENSP00000515198.1:p.Met366Ile
ENST00000703142.1:c.1098G>A ENSP00000515199.1:p.Met366Ile
ENST00000703143.1:c.1098G>A ENSP00000515200.1:p.Met366Ile
ENST00000703144.1:n.68G>A
ENST00000361445.9:c.1098G>A MANE Select ENSP00000354558.4:p.Met366Ile
ENST00000361445.8:c.1098G>A ENSP00000354558.4:p.Met366Ile
NM_004958.3:c.1098G>A , LRG_734t1:c.1098G>A NP_004949.1:p.Met366Ile
XM_005263438.1:c.1098G>A XP_005263495.1:p.Met366Ile
XM_011541166.1:c.1098G>A XP_011539468.1:p.Met366Ile
XR_244786.1:n.1219G>A
XM_005263438.2:c.1098G>A XP_005263495.1:p.Met366Ile
XM_011541166.2:c.1098G>A XP_011539468.1:p.Met366Ile
XM_017000900.1:c.417G>A XP_016856389.1:p.Met139Ile
XM_017000901.1:c.-42G>A XP_016856390.1:n.-42G>A
XM_017000902.1:c.1098G>A XP_016856391.1:p.Met366Ile
XM_024446187.1:c.1098G>A XP_024301955.1:p.Met366Ile
XR_001737087.1:n.1219G>A
NM_004958.4:c.1098G>A MANE Select NP_004949.1:p.Met366Ile
NM_001386500.1:c.1098G>A NP_001373429.1:p.Met366Ile
NM_001386501.1:c.-42G>A NP_001373430.1:n.-42G>A
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