Canonical Allele Identifier: CA10583991
Gene: MTOR HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11117039C>T , CM000663.2:g.11117039C>T GRCh38
NC_000001.10:g.11177096C>T , CM000663.1:g.11177096C>T GRCh37
NC_000001.9:g.11099683C>T NCBI36
NG_033239.1:g.150513G>A , LRG_734:g.150513G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.*2356G>A ENSP00000515181.1:n.*2356G>A
ENST00000703131.1:n.2935-1571G>A
ENST00000703139.1:c.1769G>A
ENST00000703140.1:c.6768G>A ENSP00000515197.1:p.Met2256Ile
ENST00000703141.1:c.*2498G>A ENSP00000515198.1:n.*2498G>A
ENST00000703142.1:c.*3811G>A ENSP00000515199.1:n.*3811G>A
ENST00000361445.9:c.6981G>A MANE Select ENSP00000354558.4:p.Met2327Ile
ENST00000361445.8:c.6981G>A ENSP00000354558.4:p.Met2327Ile
ENST00000376838.5:c.1596G>A ENSP00000366034.1:p.Met532Ile
NM_004958.3:c.6981G>A , LRG_734t1:c.6981G>A NP_004949.1:p.Met2327Ile
XM_005263438.1:c.6981G>A XP_005263495.1:p.Met2327Ile
XR_244786.1:n.7055-1571G>A
XM_005263438.2:c.6981G>A XP_005263495.1:p.Met2327Ile
XM_017000900.1:c.6300G>A XP_016856389.1:p.Met2100Ile
XM_017000901.1:c.5733G>A XP_016856390.1:p.Met1911Ile
XM_024446187.1:c.6981G>A XP_024301955.1:p.Met2327Ile
XR_001737087.1:n.7055-1571G>A
NM_004958.4:c.6981G>A MANE Select NP_004949.1:p.Met2327Ile
NM_001386500.1:c.6981G>A NP_001373429.1:p.Met2327Ile
NM_001386501.1:c.5733G>A NP_001373430.1:p.Met1911Ile