Canonical Allele Identifier: CA338381547

Gene: MTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11114818T>C , CM000663.2:g.11114818T>C	GRCh38
NC_000001.10:g.11174875T>C , CM000663.1:g.11174875T>C	GRCh37
NC_000001.9:g.11097462T>C	NCBI36
NG_033239.1:g.152734A>G , LRG_734:g.152734A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004958.4:c.7159A>G MANE Select	NP_004949.1:p.Met2387Val
ENST00000361445.9:c.7159A>G MANE Select	ENSP00000354558.4:p.Met2387Val
NM_001386500.1:c.7159A>G	NP_001373429.1:p.Met2387Val
NM_001386501.1:c.5911A>G	NP_001373430.1:p.Met1971Val
NM_004958.3:c.7159A>G , LRG_734t1:c.7159A>G	NP_004949.1:p.Met2387Val
ENST00000361445.8:c.7159A>G	ENSP00000354558.4:p.Met2387Val
ENST00000376838.5:c.1774A>G	ENSP00000366034.1:p.Met592Val
ENST00000455339.1:c.127A>G	ENSP00000398745.1:p.Met43Val
ENST00000490931.1:n.202A>G
ENST00000703118.1:c.*2534A>G	ENSP00000515181.1:n.*2534A>G
ENST00000703131.1:n.3077A>G
ENST00000703139.1:c.1947A>G
ENST00000703140.1:c.6946A>G	ENSP00000515197.1:p.Met2316Val
ENST00000703141.1:c.*2676A>G	ENSP00000515198.1:n.*2676A>G
ENST00000703142.1:c.*3989A>G	ENSP00000515199.1:n.*3989A>G
XM_005263438.1:c.7159A>G	XP_005263495.1:p.Met2387Val
XM_005263438.2:c.7159A>G	XP_005263495.1:p.Met2387Val
XM_017000900.1:c.6478A>G	XP_016856389.1:p.Met2160Val
XM_017000901.1:c.5911A>G	XP_016856390.1:p.Met1971Val
XM_024446187.1:c.7159A>G	XP_024301955.1:p.Met2387Val
XR_001737087.1:n.7197A>G
XR_244786.1:n.7197A>G