Canonical Allele Identifier: CA588812

Gene: MTOR

Linked Data

• ClinVar Variation Id: 695429
• ClinVar RCV Id: RCV000861063 ; RCV001796281
• dbSNP Id: rs41274506
• ExAC: 1:11169420 G / A
• gnomAD v2: 1-11169420-G-A
• gnomAD v3: 1-11109363-G-A
• gnomAD v4: 1-11109363-G-A
• MyVariant Identifiers: chr1:g.11169420G>A (hg19) ; chr1:g.11109363G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11109363G>A , CM000663.2:g.11109363G>A	GRCh38
NC_000001.10:g.11169420G>A , CM000663.1:g.11169420G>A	GRCh37
NC_000001.9:g.11092007G>A	NCBI36
NG_033239.1:g.158189C>T , LRG_734:g.158189C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2830C>T	ENSP00000515181.1:n.*2830C>T
ENST00000703131.1:n.3373C>T
ENST00000703139.1:c.2243C>T
ENST00000703140.1:c.7242C>T	ENSP00000515197.1:p.Asp2414=
ENST00000703141.1:c.*2972C>T	ENSP00000515198.1:n.*2972C>T
ENST00000703142.1:c.*4285C>T	ENSP00000515199.1:n.*4285C>T
ENST00000361445.9:c.7455C>T MANE Select	ENSP00000354558.4:p.Asp2485=
ENST00000361445.8:c.7455C>T	ENSP00000354558.4:p.Asp2485=
ENST00000376838.5:c.2070C>T	ENSP00000366034.1:p.Asp690=
ENST00000455339.1:c.423C>T	ENSP00000398745.1:p.Asp141=
ENST00000473471.5:n.467C>T
ENST00000490931.1:n.738C>T
NM_004958.3:c.7455C>T , LRG_734t1:c.7455C>T	NP_004949.1:p.Asp2485=
XM_005263438.1:c.7455C>T	XP_005263495.1:p.Asp2485=
XM_005263438.2:c.7455C>T	XP_005263495.1:p.Asp2485=
XM_017000900.1:c.6774C>T	XP_016856389.1:p.Asp2258=
XM_017000901.1:c.6207C>T	XP_016856390.1:p.Asp2069=
XM_024446187.1:c.7455C>T	XP_024301955.1:p.Asp2485=
XR_001737087.1:n.7493C>T
NM_004958.4:c.7455C>T MANE Select	NP_004949.1:p.Asp2485=
NM_001386500.1:c.7455C>T	NP_001373429.1:p.Asp2485=
NM_001386501.1:c.6207C>T	NP_001373430.1:p.Asp2069=