Canonical Allele Identifier: CA588784

Gene: MTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11108222T>C , CM000663.2:g.11108222T>C	GRCh38
NC_000001.10:g.11168279T>C , CM000663.1:g.11168279T>C	GRCh37
NC_000001.9:g.11090866T>C	NCBI36
NG_033239.1:g.159330A>G , LRG_734:g.159330A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004958.4:c.7593A>G MANE Select	NP_004949.1:p.Gln2531=
ENST00000361445.9:c.7593A>G MANE Select	ENSP00000354558.4:p.Gln2531=
NM_001386500.1:c.7593A>G	NP_001373429.1:p.Gln2531=
NM_001386501.1:c.6345A>G	NP_001373430.1:p.Gln2115=
NM_004958.3:c.7593A>G , LRG_734t1:c.7593A>G	NP_004949.1:p.Gln2531=
ENST00000361445.8:c.7593A>G	ENSP00000354558.4:p.Gln2531=
ENST00000376838.5:c.2208A>G	ENSP00000366034.1:p.Gln736=
ENST00000473471.5:n.605A>G
ENST00000490931.1:n.876A>G
ENST00000703118.1:c.*2968A>G	ENSP00000515181.1:n.*2968A>G
ENST00000703131.1:n.3511A>G
ENST00000703139.1:c.2381A>G
ENST00000703140.1:c.7380A>G	ENSP00000515197.1:p.Gln2460=
ENST00000703141.1:c.*3110A>G	ENSP00000515198.1:n.*3110A>G
ENST00000703142.1:c.*4423A>G	ENSP00000515199.1:n.*4423A>G
XM_005263438.1:c.7593A>G	XP_005263495.1:p.Gln2531=
XM_005263438.2:c.7593A>G	XP_005263495.1:p.Gln2531=
XM_017000900.1:c.6912A>G	XP_016856389.1:p.Gln2304=
XM_017000901.1:c.6345A>G	XP_016856390.1:p.Gln2115=
XM_024446187.1:c.7593A>G	XP_024301955.1:p.Gln2531=
XR_001737087.1:n.7631A>G