Canonical Allele Identifier: CA589372

Gene: MTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11133099T>C , CM000663.2:g.11133099T>C	GRCh38
NC_000001.10:g.11193156T>C , CM000663.1:g.11193156T>C	GRCh37
NC_000001.9:g.11115743T>C	NCBI36
NG_033239.1:g.134453A>G , LRG_734:g.134453A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004958.4:c.5345A>G MANE Select	NP_004949.1:p.His1782Arg
ENST00000361445.9:c.5345A>G MANE Select	ENSP00000354558.4:p.His1782Arg
NM_001386500.1:c.5345A>G	NP_001373429.1:p.His1782Arg
NM_001386501.1:c.4097A>G	NP_001373430.1:p.His1366Arg
NM_004958.3:c.5345A>G , LRG_734t1:c.5345A>G	NP_004949.1:p.His1782Arg
ENST00000361445.8:c.5345A>G	ENSP00000354558.4:p.His1782Arg
ENST00000495435.1:n.851A>G
ENST00000703118.1:c.*720A>G	ENSP00000515181.1:n.*720A>G
ENST00000703131.1:n.1149A>G
ENST00000703140.1:c.5132A>G	ENSP00000515197.1:p.His1711Arg
ENST00000703141.1:c.*665A>G	ENSP00000515198.1:n.*665A>G
ENST00000703142.1:c.*2175A>G	ENSP00000515199.1:n.*2175A>G
XM_005263438.1:c.5345A>G	XP_005263495.1:p.His1782Arg
XM_005263438.2:c.5345A>G	XP_005263495.1:p.His1782Arg
XM_017000900.1:c.4664A>G	XP_016856389.1:p.His1555Arg
XM_017000901.1:c.4097A>G	XP_016856390.1:p.His1366Arg
XM_024446187.1:c.5345A>G	XP_024301955.1:p.His1782Arg
XR_001737087.1:n.5466A>G
XR_244786.1:n.5466A>G