Canonical Allele Identifier: CA338400384

Gene: MTOR

Linked Data

• dbSNP Id: rs1424951706
• gnomAD v2: 1-11308069-G-A
• gnomAD v4: 1-11248012-G-A
• MyVariant Identifiers: chr1:g.11308069G>A (hg19) ; chr1:g.11248012G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11248012G>A , CM000663.2:g.11248012G>A	GRCh38
NC_000001.10:g.11308069G>A , CM000663.1:g.11308069G>A	GRCh37
NC_000001.9:g.11230656G>A	NCBI36
NG_033239.1:g.19540C>T , LRG_734:g.19540C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.923C>T	ENSP00000515181.1:p.Thr308Ile
ENST00000703132.1:n.904C>T
ENST00000703140.1:c.923C>T	ENSP00000515197.1:p.Thr308Ile
ENST00000703141.1:c.923C>T	ENSP00000515198.1:p.Thr308Ile
ENST00000703142.1:c.923C>T	ENSP00000515199.1:p.Thr308Ile
ENST00000703143.1:c.923C>T	ENSP00000515200.1:p.Thr308Ile
ENST00000361445.9:c.923C>T MANE Select	ENSP00000354558.4:p.Thr308Ile
ENST00000361445.8:c.923C>T	ENSP00000354558.4:p.Thr308Ile
NM_004958.3:c.923C>T , LRG_734t1:c.923C>T	NP_004949.1:p.Thr308Ile
XM_005263438.1:c.923C>T	XP_005263495.1:p.Thr308Ile
XM_011541166.1:c.923C>T	XP_011539468.1:p.Thr308Ile
XR_244786.1:n.1044C>T
XM_005263438.2:c.923C>T	XP_005263495.1:p.Thr308Ile
XM_011541166.2:c.923C>T	XP_011539468.1:p.Thr308Ile
XM_017000900.1:c.242C>T	XP_016856389.1:p.Thr81Ile
XM_017000901.1:c.-217C>T	XP_016856390.1:n.-217C>T
XM_017000902.1:c.923C>T	XP_016856391.1:p.Thr308Ile
XM_024446187.1:c.923C>T	XP_024301955.1:p.Thr308Ile
XR_001737087.1:n.1044C>T
NM_004958.4:c.923C>T MANE Select	NP_004949.1:p.Thr308Ile
NM_001386500.1:c.923C>T	NP_001373429.1:p.Thr308Ile
NM_001386501.1:c.-217C>T	NP_001373430.1:n.-217C>T