Canonical Allele Identifier: CA590863

Gene: MTOR

Linked Data

• ClinVar Variation Id: 1653908
• ClinVar RCV Id: RCV002163564
• dbSNP Id: rs759205492
• ExAC: 1:11308168 G / GA
• gnomAD v2: 1-11308168-G-GA
• gnomAD v3: 1-11248111-G-GA
• gnomAD v4: 1-11248111-G-GA
• MyVariant Identifiers: chr1:g.11308169_11308170insA (hg19) ; chr1:g.11308168_11308169insA (hg19) ; chr1:g.11248112_11248113insA (hg38) ; chr1:g.11248111_11248112insA (hg38)

Genomic Alleles

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

Transcript Alleles

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