Canonical Allele Identifier: CA590864

Gene: MTOR

Linked Data

• ClinVar Variation Id: 2079733
• ClinVar RCV Id: RCV002998745
• dbSNP Id: rs759205492
• ExAC: 1:11308168 GA / G
• gnomAD v2: 1-11308168-GA-G
• gnomAD v3: 1-11248111-GA-G
• gnomAD v4: 1-11248111-GA-G
• MyVariant Identifiers: chr1:g.11308169del (hg19) ; chr1:g.11248112del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11248118del , CM000663.2:g.11248118del	GRCh38
NC_000001.10:g.11308175del , CM000663.1:g.11308175del	GRCh37
NC_000001.9:g.11230762del	NCBI36
NG_033239.1:g.19440del , LRG_734:g.19440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.841-18del	ENSP00000515181.1:n.841-18del
ENST00000703132.1:n.822-18del
ENST00000703140.1:c.841-18del	ENSP00000515197.1:n.841-18del
ENST00000703141.1:c.841-18del	ENSP00000515198.1:n.841-18del
ENST00000703142.1:c.841-18del	ENSP00000515199.1:n.841-18del
ENST00000703143.1:c.841-18del	ENSP00000515200.1:n.841-18del
ENST00000361445.9:c.841-18del MANE Select	ENSP00000354558.4:n.841-18del
ENST00000361445.8:c.841-18del	ENSP00000354558.4:n.841-18del
NM_004958.3:c.841-18del , LRG_734t1:c.841-18del	NP_004949.1:n.841-18del
XM_005263438.1:c.841-18del	XP_005263495.1:n.841-18del
XM_011541166.1:c.841-18del	XP_011539468.1:n.841-18del
XR_244786.1:n.962-18del
XM_005263438.2:c.841-18del	XP_005263495.1:n.841-18del
XM_011541166.2:c.841-18del	XP_011539468.1:n.841-18del
XM_017000900.1:c.160-18del	XP_016856389.1:n.160-18del
XM_017000901.1:c.-299-18del	XP_016856390.1:n.-299-18del
XM_017000902.1:c.841-18del	XP_016856391.1:n.841-18del
XM_024446187.1:c.841-18del	XP_024301955.1:n.841-18del
XR_001737087.1:n.962-18del
NM_004958.4:c.841-18del MANE Select	NP_004949.1:n.841-18del
NM_001386500.1:c.841-18del	NP_001373429.1:n.841-18del
NM_001386501.1:c.-299-18del	NP_001373430.1:n.-299-18del