Canonical Allele Identifier: CA17913556

Gene: MTOR

Linked Data

• dbSNP Id: rs926168426
• gnomAD v2: 1-11216985-C-G
• gnomAD v3: 1-11156928-C-G
• gnomAD v4: 1-11156928-C-G
• MyVariant Identifiers: chr1:g.11216985C>G (hg19) ; chr1:g.11156928C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11156928C>G , CM000663.2:g.11156928C>G	GRCh38
NC_000001.10:g.11216985C>G , CM000663.1:g.11216985C>G	GRCh37
NC_000001.9:g.11139572C>G	NCBI36
NG_033239.1:g.110624G>C , LRG_734:g.110624G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.4469+224G>C	ENSP00000515181.1:n.4469+224G>C
ENST00000703131.1:n.389+224G>C
ENST00000703140.1:c.4256+224G>C	ENSP00000515197.1:n.4256+224G>C
ENST00000703141.1:c.4469+224G>C	ENSP00000515198.1:n.4469+224G>C
ENST00000703142.1:c.*1299+224G>C	ENSP00000515199.1:n.*1299+224G>C
ENST00000361445.9:c.4469+224G>C MANE Select	ENSP00000354558.4:n.4469+224G>C
ENST00000361445.8:c.4469+224G>C	ENSP00000354558.4:n.4469+224G>C
NM_004958.3:c.4469+224G>C , LRG_734t1:c.4469+224G>C	NP_004949.1:n.4469+224G>C
XM_005263438.1:c.4469+224G>C	XP_005263495.1:n.4469+224G>C
XM_011541166.1:c.4469+224G>C	XP_011539468.1:n.4469+224G>C
XR_244786.1:n.4590+224G>C
XM_005263438.2:c.4469+224G>C	XP_005263495.1:n.4469+224G>C
XM_011541166.2:c.4469+224G>C	XP_011539468.1:n.4469+224G>C
XM_017000900.1:c.3788+224G>C	XP_016856389.1:n.3788+224G>C
XM_017000901.1:c.3221+224G>C	XP_016856390.1:n.3221+224G>C
XM_024446187.1:c.4469+224G>C	XP_024301955.1:n.4469+224G>C
XR_001737087.1:n.4590+224G>C
NM_004958.4:c.4469+224G>C MANE Select	NP_004949.1:n.4469+224G>C
NM_001386500.1:c.4469+224G>C	NP_001373429.1:n.4469+224G>C
NM_001386501.1:c.3221+224G>C	NP_001373430.1:n.3221+224G>C