Canonical Allele Identifier: CA338378695

Gene: MTOR

Linked Data

• dbSNP Id: rs2100287128
• MyVariant Identifiers: chr1:g.11169398G>T (hg19) ; chr1:g.11109341G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11109341G>T , CM000663.2:g.11109341G>T	GRCh38
NC_000001.10:g.11169398G>T , CM000663.1:g.11169398G>T	GRCh37
NC_000001.9:g.11091985G>T	NCBI36
NG_033239.1:g.158211C>A , LRG_734:g.158211C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.*2852C>A	ENSP00000515181.1:n.*2852C>A
ENST00000703131.1:n.3395C>A
ENST00000703139.1:c.2265C>A
ENST00000703140.1:c.7264C>A	ENSP00000515197.1:p.Leu2422Ile
ENST00000703141.1:c.*2994C>A	ENSP00000515198.1:n.*2994C>A
ENST00000703142.1:c.*4307C>A	ENSP00000515199.1:n.*4307C>A
ENST00000361445.9:c.7477C>A MANE Select	ENSP00000354558.4:p.Leu2493Ile
ENST00000361445.8:c.7477C>A	ENSP00000354558.4:p.Leu2493Ile
ENST00000376838.5:c.2092C>A	ENSP00000366034.1:p.Leu698Ile
ENST00000455339.1:c.445C>A	ENSP00000398745.1:p.Leu149Ile
ENST00000473471.5:n.489C>A
ENST00000490931.1:n.760C>A
NM_004958.3:c.7477C>A , LRG_734t1:c.7477C>A	NP_004949.1:p.Leu2493Ile
XM_005263438.1:c.7477C>A	XP_005263495.1:p.Leu2493Ile
XM_005263438.2:c.7477C>A	XP_005263495.1:p.Leu2493Ile
XM_017000900.1:c.6796C>A	XP_016856389.1:p.Leu2266Ile
XM_017000901.1:c.6229C>A	XP_016856390.1:p.Leu2077Ile
XM_024446187.1:c.7477C>A	XP_024301955.1:p.Leu2493Ile
XR_001737087.1:n.7515C>A
NM_004958.4:c.7477C>A MANE Select	NP_004949.1:p.Leu2493Ile
NM_001386500.1:c.7477C>A	NP_001373429.1:p.Leu2493Ile
NM_001386501.1:c.6229C>A	NP_001373430.1:p.Leu2077Ile