Canonical Allele Identifier: CA338378732

Gene: MTOR

Linked Data

• dbSNP Id: rs2100287289
• MyVariant Identifiers: chr1:g.11169409T>G (hg19) ; chr1:g.11109352T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11109352T>G , CM000663.2:g.11109352T>G	GRCh38
NC_000001.10:g.11169409T>G , CM000663.1:g.11169409T>G	GRCh37
NC_000001.9:g.11091996T>G	NCBI36
NG_033239.1:g.158200A>C , LRG_734:g.158200A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2841A>C	ENSP00000515181.1:n.*2841A>C
ENST00000703131.1:n.3384A>C
ENST00000703139.1:c.2254A>C
ENST00000703140.1:c.7253A>C	ENSP00000515197.1:p.Lys2418Thr
ENST00000703141.1:c.*2983A>C	ENSP00000515198.1:n.*2983A>C
ENST00000703142.1:c.*4296A>C	ENSP00000515199.1:n.*4296A>C
ENST00000361445.9:c.7466A>C MANE Select	ENSP00000354558.4:p.Lys2489Thr
ENST00000361445.8:c.7466A>C	ENSP00000354558.4:p.Lys2489Thr
ENST00000376838.5:c.2081A>C	ENSP00000366034.1:p.Lys694Thr
ENST00000455339.1:c.434A>C	ENSP00000398745.1:p.Lys145Thr
ENST00000473471.5:n.478A>C
ENST00000490931.1:n.749A>C
NM_004958.3:c.7466A>C , LRG_734t1:c.7466A>C	NP_004949.1:p.Lys2489Thr
XM_005263438.1:c.7466A>C	XP_005263495.1:p.Lys2489Thr
XM_005263438.2:c.7466A>C	XP_005263495.1:p.Lys2489Thr
XM_017000900.1:c.6785A>C	XP_016856389.1:p.Lys2262Thr
XM_017000901.1:c.6218A>C	XP_016856390.1:p.Lys2073Thr
XM_024446187.1:c.7466A>C	XP_024301955.1:p.Lys2489Thr
XR_001737087.1:n.7504A>C
NM_004958.4:c.7466A>C MANE Select	NP_004949.1:p.Lys2489Thr
NM_001386500.1:c.7466A>C	NP_001373429.1:p.Lys2489Thr
NM_001386501.1:c.6218A>C	NP_001373430.1:p.Lys2073Thr