Canonical Allele Identifier: CA338400245

Gene: MTOR

Linked Data

• dbSNP Id: rs1649070453
• MyVariant Identifiers: chr1:g.11308046A>G (hg19) ; chr1:g.11247989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11247989A>G , CM000663.2:g.11247989A>G	GRCh38
NC_000001.10:g.11308046A>G , CM000663.1:g.11308046A>G	GRCh37
NC_000001.9:g.11230633A>G	NCBI36
NG_033239.1:g.19563T>C , LRG_734:g.19563T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.946T>C	ENSP00000515181.1:p.Phe316Leu
ENST00000703132.1:n.927T>C
ENST00000703140.1:c.946T>C	ENSP00000515197.1:p.Phe316Leu
ENST00000703141.1:c.946T>C	ENSP00000515198.1:p.Phe316Leu
ENST00000703142.1:c.946T>C	ENSP00000515199.1:p.Phe316Leu
ENST00000703143.1:c.946T>C	ENSP00000515200.1:p.Phe316Leu
ENST00000361445.9:c.946T>C MANE Select	ENSP00000354558.4:p.Phe316Leu
ENST00000361445.8:c.946T>C	ENSP00000354558.4:p.Phe316Leu
NM_004958.3:c.946T>C , LRG_734t1:c.946T>C	NP_004949.1:p.Phe316Leu
XM_005263438.1:c.946T>C	XP_005263495.1:p.Phe316Leu
XM_011541166.1:c.946T>C	XP_011539468.1:p.Phe316Leu
XR_244786.1:n.1067T>C
XM_005263438.2:c.946T>C	XP_005263495.1:p.Phe316Leu
XM_011541166.2:c.946T>C	XP_011539468.1:p.Phe316Leu
XM_017000900.1:c.265T>C	XP_016856389.1:p.Phe89Leu
XM_017000901.1:c.-194T>C	XP_016856390.1:n.-194T>C
XM_017000902.1:c.946T>C	XP_016856391.1:p.Phe316Leu
XM_024446187.1:c.946T>C	XP_024301955.1:p.Phe316Leu
XR_001737087.1:n.1067T>C
NM_004958.4:c.946T>C MANE Select	NP_004949.1:p.Phe316Leu
NM_001386500.1:c.946T>C	NP_001373429.1:p.Phe316Leu
NM_001386501.1:c.-194T>C	NP_001373430.1:n.-194T>C