Canonical Allele Identifier: CA2592752954

Gene: MTOR

Linked Data

• dbSNP Id: rs2100295089
• gnomAD v3: 1-11110940-C-T
• gnomAD v4: 1-11110940-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11110940C>T , CM000663.2:g.11110940C>T	GRCh38
NC_000001.10:g.11170997C>T , CM000663.1:g.11170997C>T	GRCh37
NC_000001.9:g.11093584C>T	NCBI36
NG_033239.1:g.156612G>A , LRG_734:g.156612G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2742-1211G>A	ENSP00000515181.1:n.*2742-1211G>A
ENST00000703131.1:n.3285-1211G>A
ENST00000703139.1:c.2155-1211G>A
ENST00000703140.1:c.7154-1211G>A	ENSP00000515197.1:n.7154-1211G>A
ENST00000703141.1:c.*2884-1211G>A	ENSP00000515198.1:n.*2884-1211G>A
ENST00000703142.1:c.*4197-1211G>A	ENSP00000515199.1:n.*4197-1211G>A
ENST00000361445.9:c.7367-1211G>A MANE Select	ENSP00000354558.4:n.7367-1211G>A
ENST00000361445.8:c.7367-1211G>A	ENSP00000354558.4:n.7367-1211G>A
ENST00000376838.5:c.1982-1211G>A	ENSP00000366034.1:n.1982-1211G>A
ENST00000455339.1:c.335-1211G>A	ENSP00000398745.1:n.335-1211G>A
ENST00000473471.5:n.379-1211G>A
ENST00000490931.1:n.649+574G>A
NM_004958.3:c.7367-1211G>A , LRG_734t1:c.7367-1211G>A	NP_004949.1:n.7367-1211G>A
XM_005263438.1:c.7367-1211G>A	XP_005263495.1:n.7367-1211G>A
XM_005263438.2:c.7367-1211G>A	XP_005263495.1:n.7367-1211G>A
XM_017000900.1:c.6686-1211G>A	XP_016856389.1:n.6686-1211G>A
XM_017000901.1:c.6119-1211G>A	XP_016856390.1:n.6119-1211G>A
XM_024446187.1:c.7367-1211G>A	XP_024301955.1:n.7367-1211G>A
XR_001737087.1:n.7405-1211G>A
NM_004958.4:c.7367-1211G>A MANE Select	NP_004949.1:n.7367-1211G>A
NM_001386500.1:c.7367-1211G>A	NP_001373429.1:n.7367-1211G>A
NM_001386501.1:c.6119-1211G>A	NP_001373430.1:n.6119-1211G>A