Canonical Allele Identifier: CA16602264

Gene: MTOR

Linked Data

• ClinVar Variation Id: 374796
• ClinVar RCV Id: RCV001836813
• dbSNP Id: rs1057519914
• MyVariant Identifiers: chr1:g.11217231A>G (hg19) ; chr1:g.11157174A>G (hg38)
• ERepo: CA16602264/MONDO:0016054/018 ; CA16602264/MONDO:0100283/018
• PubMed: PMID:26619011 ; PMID:28864461

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11157174A>G , CM000663.2:g.11157174A>G	GRCh38
NC_000001.10:g.11217231A>G , CM000663.1:g.11217231A>G	GRCh37
NC_000001.9:g.11139818A>G	NCBI36
NG_033239.1:g.110378T>C , LRG_734:g.110378T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703118.1:c.4447T>C	ENSP00000515181.1:p.Cys1483Arg
ENST00000703131.1:n.367T>C
ENST00000703140.1:c.4234T>C	ENSP00000515197.1:p.Cys1412Arg
ENST00000703141.1:c.4447T>C	ENSP00000515198.1:p.Cys1483Arg
ENST00000703142.1:c.*1277T>C	ENSP00000515199.1:n.*1277T>C
ENST00000361445.9:c.4447T>C MANE Select	ENSP00000354558.4:p.Cys1483Arg
ENST00000361445.8:c.4447T>C	ENSP00000354558.4:p.Cys1483Arg
NM_004958.3:c.4447T>C , LRG_734t1:c.4447T>C	NP_004949.1:p.Cys1483Arg
XM_005263438.1:c.4447T>C	XP_005263495.1:p.Cys1483Arg
XM_011541166.1:c.4447T>C	XP_011539468.1:p.Cys1483Arg
XR_244786.1:n.4568T>C
XM_005263438.2:c.4447T>C	XP_005263495.1:p.Cys1483Arg
XM_011541166.2:c.4447T>C	XP_011539468.1:p.Cys1483Arg
XM_017000900.1:c.3766T>C	XP_016856389.1:p.Cys1256Arg
XM_017000901.1:c.3199T>C	XP_016856390.1:p.Cys1067Arg
XM_024446187.1:c.4447T>C	XP_024301955.1:p.Cys1483Arg
XR_001737087.1:n.4568T>C
NM_004958.4:c.4447T>C MANE Select	NP_004949.1:p.Cys1483Arg
NM_001386500.1:c.4447T>C	NP_001373429.1:p.Cys1483Arg
NM_001386501.1:c.3199T>C	NP_001373430.1:p.Cys1067Arg