Canonical Allele Identifier: CA338397650

Gene: MTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11129788G>C , CM000663.2:g.11129788G>C	GRCh38
NC_000001.10:g.11189845G>C , CM000663.1:g.11189845G>C	GRCh37
NC_000001.9:g.11112432G>C	NCBI36
NG_033239.1:g.137764C>G , LRG_734:g.137764C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004958.4:c.5664C>G MANE Select	NP_004949.1:p.Phe1888Leu
ENST00000361445.9:c.5664C>G MANE Select	ENSP00000354558.4:p.Phe1888Leu
NM_001386500.1:c.5664C>G	NP_001373429.1:p.Phe1888Leu
NM_001386501.1:c.4416C>G	NP_001373430.1:p.Phe1472Leu
NM_004958.3:c.5664C>G , LRG_734t1:c.5664C>G	NP_004949.1:p.Phe1888Leu
ENST00000361445.8:c.5664C>G	ENSP00000354558.4:p.Phe1888Leu
ENST00000376838.5:c.279C>G	ENSP00000366034.1:p.Phe93Leu
ENST00000703118.1:c.*1039C>G	ENSP00000515181.1:n.*1039C>G
ENST00000703131.1:n.1468C>G
ENST00000703139.1:c.301C>G
ENST00000703140.1:c.5451C>G	ENSP00000515197.1:p.Phe1817Leu
ENST00000703141.1:c.*984C>G	ENSP00000515198.1:n.*984C>G
ENST00000703142.1:c.*2494C>G	ENSP00000515199.1:n.*2494C>G
XM_005263438.1:c.5664C>G	XP_005263495.1:p.Phe1888Leu
XM_005263438.2:c.5664C>G	XP_005263495.1:p.Phe1888Leu
XM_017000900.1:c.4983C>G	XP_016856389.1:p.Phe1661Leu
XM_017000901.1:c.4416C>G	XP_016856390.1:p.Phe1472Leu
XM_024446187.1:c.5664C>G	XP_024301955.1:p.Phe1888Leu
XR_001737087.1:n.5785C>G
XR_244786.1:n.5785C>G