Canonical Allele Identifier: CA590817

Gene: MTOR

Linked Data

• ClinVar Variation Id: 2144731
• ClinVar RCV Id: RCV003063082
• dbSNP Id: rs748256443
• ExAC: 1:11307914 G / T
• gnomAD v2: 1-11307914-G-T
• gnomAD v4: 1-11247857-G-T
• MyVariant Identifiers: chr1:g.11307914G>T (hg19) ; chr1:g.11247857G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11247857G>T , CM000663.2:g.11247857G>T	GRCh38
NC_000001.10:g.11307914G>T , CM000663.1:g.11307914G>T	GRCh37
NC_000001.9:g.11230501G>T	NCBI36
NG_033239.1:g.19695C>A , LRG_734:g.19695C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703118.1:c.1078C>A	ENSP00000515181.1:p.Arg360=
ENST00000703132.1:n.1059C>A
ENST00000703140.1:c.1078C>A	ENSP00000515197.1:p.Arg360=
ENST00000703141.1:c.1078C>A	ENSP00000515198.1:p.Arg360=
ENST00000703142.1:c.1078C>A	ENSP00000515199.1:p.Arg360=
ENST00000703143.1:c.1078C>A	ENSP00000515200.1:p.Arg360=
ENST00000703144.1:n.48C>A
ENST00000361445.9:c.1078C>A MANE Select	ENSP00000354558.4:p.Arg360=
ENST00000361445.8:c.1078C>A	ENSP00000354558.4:p.Arg360=
NM_004958.3:c.1078C>A , LRG_734t1:c.1078C>A	NP_004949.1:p.Arg360=
XM_005263438.1:c.1078C>A	XP_005263495.1:p.Arg360=
XM_011541166.1:c.1078C>A	XP_011539468.1:p.Arg360=
XR_244786.1:n.1199C>A
XM_005263438.2:c.1078C>A	XP_005263495.1:p.Arg360=
XM_011541166.2:c.1078C>A	XP_011539468.1:p.Arg360=
XM_017000900.1:c.397C>A	XP_016856389.1:p.Arg133=
XM_017000901.1:c.-62C>A	XP_016856390.1:n.-62C>A
XM_017000902.1:c.1078C>A	XP_016856391.1:p.Arg360=
XM_024446187.1:c.1078C>A	XP_024301955.1:p.Arg360=
XR_001737087.1:n.1199C>A
NM_004958.4:c.1078C>A MANE Select	NP_004949.1:p.Arg360=
NM_001386500.1:c.1078C>A	NP_001373429.1:p.Arg360=
NM_001386501.1:c.-62C>A	NP_001373430.1:n.-62C>A