Canonical Allele Identifier: CA338371537

Gene: MTOR

Linked Data

• ClinVar Variation Id: 3029593
• ClinVar RCV Id: RCV003896693
• dbSNP Id: rs752812957
• MyVariant Identifiers: chr1:g.11217225C>T (hg19) ; chr1:g.11157168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11157168C>T , CM000663.2:g.11157168C>T	GRCh38
NC_000001.10:g.11217225C>T , CM000663.1:g.11217225C>T	GRCh37
NC_000001.9:g.11139812C>T	NCBI36
NG_033239.1:g.110384G>A , LRG_734:g.110384G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.4453G>A	ENSP00000515181.1:p.Glu1485Lys
ENST00000703131.1:n.373G>A
ENST00000703140.1:c.4240G>A	ENSP00000515197.1:p.Glu1414Lys
ENST00000703141.1:c.4453G>A	ENSP00000515198.1:p.Glu1485Lys
ENST00000703142.1:c.*1283G>A	ENSP00000515199.1:n.*1283G>A
ENST00000361445.9:c.4453G>A MANE Select	ENSP00000354558.4:p.Glu1485Lys
ENST00000361445.8:c.4453G>A	ENSP00000354558.4:p.Glu1485Lys
NM_004958.3:c.4453G>A , LRG_734t1:c.4453G>A	NP_004949.1:p.Glu1485Lys
XM_005263438.1:c.4453G>A	XP_005263495.1:p.Glu1485Lys
XM_011541166.1:c.4453G>A	XP_011539468.1:p.Glu1485Lys
XR_244786.1:n.4574G>A
XM_005263438.2:c.4453G>A	XP_005263495.1:p.Glu1485Lys
XM_011541166.2:c.4453G>A	XP_011539468.1:p.Glu1485Lys
XM_017000900.1:c.3772G>A	XP_016856389.1:p.Glu1258Lys
XM_017000901.1:c.3205G>A	XP_016856390.1:p.Glu1069Lys
XM_024446187.1:c.4453G>A	XP_024301955.1:p.Glu1485Lys
XR_001737087.1:n.4574G>A
NM_004958.4:c.4453G>A MANE Select	NP_004949.1:p.Glu1485Lys
NM_001386500.1:c.4453G>A	NP_001373429.1:p.Glu1485Lys
NM_001386501.1:c.3205G>A	NP_001373430.1:p.Glu1069Lys