Canonical Allele Identifier: CA16602889

Gene: MTOR

Linked Data

• ClinVar Variation Id: 376454
• ClinVar RCV Id: RCV000421869 ; RCV000432577 ; RCV000440639
• dbSNP Id: rs1057519913
• MyVariant Identifiers: chr1:g.11217229G>C (hg19) ; chr1:g.11157172G>C (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11157172G>C , CM000663.2:g.11157172G>C	GRCh38
NC_000001.10:g.11217229G>C , CM000663.1:g.11217229G>C	GRCh37
NC_000001.9:g.11139816G>C	NCBI36
NG_033239.1:g.110380C>G , LRG_734:g.110380C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.4449C>G	ENSP00000515181.1:p.Cys1483Trp
ENST00000703131.1:n.369C>G
ENST00000703140.1:c.4236C>G	ENSP00000515197.1:p.Cys1412Trp
ENST00000703141.1:c.4449C>G	ENSP00000515198.1:p.Cys1483Trp
ENST00000703142.1:c.*1279C>G	ENSP00000515199.1:n.*1279C>G
ENST00000361445.9:c.4449C>G MANE Select	ENSP00000354558.4:p.Cys1483Trp
ENST00000361445.8:c.4449C>G	ENSP00000354558.4:p.Cys1483Trp
NM_004958.3:c.4449C>G , LRG_734t1:c.4449C>G	NP_004949.1:p.Cys1483Trp
XM_005263438.1:c.4449C>G	XP_005263495.1:p.Cys1483Trp
XM_011541166.1:c.4449C>G	XP_011539468.1:p.Cys1483Trp
XR_244786.1:n.4570C>G
XM_005263438.2:c.4449C>G	XP_005263495.1:p.Cys1483Trp
XM_011541166.2:c.4449C>G	XP_011539468.1:p.Cys1483Trp
XM_017000900.1:c.3768C>G	XP_016856389.1:p.Cys1256Trp
XM_017000901.1:c.3201C>G	XP_016856390.1:p.Cys1067Trp
XM_024446187.1:c.4449C>G	XP_024301955.1:p.Cys1483Trp
XR_001737087.1:n.4570C>G
NM_004958.4:c.4449C>G MANE Select	NP_004949.1:p.Cys1483Trp
NM_001386500.1:c.4449C>G	NP_001373429.1:p.Cys1483Trp
NM_001386501.1:c.3201C>G	NP_001373430.1:p.Cys1067Trp