Canonical Allele Identifier: CA338400443

Gene: MTOR

Linked Data

• dbSNP Id: rs1649076096
• gnomAD v3: 1-11248027-A-C
• gnomAD v4: 1-11248027-A-C
• MyVariant Identifiers: chr1:g.11308084A>C (hg19) ; chr1:g.11248027A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11248027A>C , CM000663.2:g.11248027A>C	GRCh38
NC_000001.10:g.11308084A>C , CM000663.1:g.11308084A>C	GRCh37
NC_000001.9:g.11230671A>C	NCBI36
NG_033239.1:g.19525T>G , LRG_734:g.19525T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703118.1:c.908T>G	ENSP00000515181.1:p.Leu303Arg
ENST00000703132.1:n.889T>G
ENST00000703140.1:c.908T>G	ENSP00000515197.1:p.Leu303Arg
ENST00000703141.1:c.908T>G	ENSP00000515198.1:p.Leu303Arg
ENST00000703142.1:c.908T>G	ENSP00000515199.1:p.Leu303Arg
ENST00000703143.1:c.908T>G	ENSP00000515200.1:p.Leu303Arg
ENST00000361445.9:c.908T>G MANE Select	ENSP00000354558.4:p.Leu303Arg
ENST00000361445.8:c.908T>G	ENSP00000354558.4:p.Leu303Arg
NM_004958.3:c.908T>G , LRG_734t1:c.908T>G	NP_004949.1:p.Leu303Arg
XM_005263438.1:c.908T>G	XP_005263495.1:p.Leu303Arg
XM_011541166.1:c.908T>G	XP_011539468.1:p.Leu303Arg
XR_244786.1:n.1029T>G
XM_005263438.2:c.908T>G	XP_005263495.1:p.Leu303Arg
XM_011541166.2:c.908T>G	XP_011539468.1:p.Leu303Arg
XM_017000900.1:c.227T>G	XP_016856389.1:p.Leu76Arg
XM_017000901.1:c.-232T>G	XP_016856390.1:n.-232T>G
XM_017000902.1:c.908T>G	XP_016856391.1:p.Leu303Arg
XM_024446187.1:c.908T>G	XP_024301955.1:p.Leu303Arg
XR_001737087.1:n.1029T>G
NM_004958.4:c.908T>G MANE Select	NP_004949.1:p.Leu303Arg
NM_001386500.1:c.908T>G	NP_001373429.1:p.Leu303Arg
NM_001386501.1:c.-232T>G	NP_001373430.1:n.-232T>G