Canonical Allele Identifier: CA338378700

Gene: MTOR

Linked Data

• dbSNP Id: rs911296767
• MyVariant Identifiers: chr1:g.11169400G>C (hg19) ; chr1:g.11109343G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11109343G>C , CM000663.2:g.11109343G>C	GRCh38
NC_000001.10:g.11169400G>C , CM000663.1:g.11169400G>C	GRCh37
NC_000001.9:g.11091987G>C	NCBI36
NG_033239.1:g.158209C>G , LRG_734:g.158209C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2850C>G	ENSP00000515181.1:n.*2850C>G
ENST00000703131.1:n.3393C>G
ENST00000703139.1:c.2263C>G
ENST00000703140.1:c.7262C>G	ENSP00000515197.1:p.Ala2421Gly
ENST00000703141.1:c.*2992C>G	ENSP00000515198.1:n.*2992C>G
ENST00000703142.1:c.*4305C>G	ENSP00000515199.1:n.*4305C>G
ENST00000361445.9:c.7475C>G MANE Select	ENSP00000354558.4:p.Ala2492Gly
ENST00000361445.8:c.7475C>G	ENSP00000354558.4:p.Ala2492Gly
ENST00000376838.5:c.2090C>G	ENSP00000366034.1:p.Ala697Gly
ENST00000455339.1:c.443C>G	ENSP00000398745.1:p.Ala148Gly
ENST00000473471.5:n.487C>G
ENST00000490931.1:n.758C>G
NM_004958.3:c.7475C>G , LRG_734t1:c.7475C>G	NP_004949.1:p.Ala2492Gly
XM_005263438.1:c.7475C>G	XP_005263495.1:p.Ala2492Gly
XM_005263438.2:c.7475C>G	XP_005263495.1:p.Ala2492Gly
XM_017000900.1:c.6794C>G	XP_016856389.1:p.Ala2265Gly
XM_017000901.1:c.6227C>G	XP_016856390.1:p.Ala2076Gly
XM_024446187.1:c.7475C>G	XP_024301955.1:p.Ala2492Gly
XR_001737087.1:n.7513C>G
NM_004958.4:c.7475C>G MANE Select	NP_004949.1:p.Ala2492Gly
NM_001386500.1:c.7475C>G	NP_001373429.1:p.Ala2492Gly
NM_001386501.1:c.6227C>G	NP_001373430.1:p.Ala2076Gly