Canonical Allele Identifier: CA589645

Gene: MTOR

Linked Data

• ClinVar Variation Id: 759192
• ClinVar RCV Id: RCV000936981
• dbSNP Id: rs780930764
• ExAC: 1:11217239 C / T
• gnomAD v2: 1-11217239-C-T
• gnomAD v3: 1-11157182-C-T
• gnomAD v4: 1-11157182-C-T
• COSMIC: COSM1332646
• MyVariant Identifiers: chr1:g.11217239C>T (hg19) ; chr1:g.11157182C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11157182C>T , CM000663.2:g.11157182C>T	GRCh38
NC_000001.10:g.11217239C>T , CM000663.1:g.11217239C>T	GRCh37
NC_000001.9:g.11139826C>T	NCBI36
NG_033239.1:g.110370G>A , LRG_734:g.110370G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703118.1:c.4439G>A	ENSP00000515181.1:p.Arg1480His
ENST00000703131.1:n.359G>A
ENST00000703140.1:c.4226G>A	ENSP00000515197.1:p.Arg1409His
ENST00000703141.1:c.4439G>A	ENSP00000515198.1:p.Arg1480His
ENST00000703142.1:c.*1269G>A	ENSP00000515199.1:n.*1269G>A
ENST00000361445.9:c.4439G>A MANE Select	ENSP00000354558.4:p.Arg1480His
ENST00000361445.8:c.4439G>A	ENSP00000354558.4:p.Arg1480His
NM_004958.3:c.4439G>A , LRG_734t1:c.4439G>A	NP_004949.1:p.Arg1480His
XM_005263438.1:c.4439G>A	XP_005263495.1:p.Arg1480His
XM_011541166.1:c.4439G>A	XP_011539468.1:p.Arg1480His
XR_244786.1:n.4560G>A
XM_005263438.2:c.4439G>A	XP_005263495.1:p.Arg1480His
XM_011541166.2:c.4439G>A	XP_011539468.1:p.Arg1480His
XM_017000900.1:c.3758G>A	XP_016856389.1:p.Arg1253His
XM_017000901.1:c.3191G>A	XP_016856390.1:p.Arg1064His
XM_024446187.1:c.4439G>A	XP_024301955.1:p.Arg1480His
XR_001737087.1:n.4560G>A
NM_004958.4:c.4439G>A MANE Select	NP_004949.1:p.Arg1480His
NM_001386500.1:c.4439G>A	NP_001373429.1:p.Arg1480His
NM_001386501.1:c.3191G>A	NP_001373430.1:p.Arg1064His