Canonical Allele Identifier: CA590850
Gene: MTOR HGNC NCBI

Linked Data

ClinVar Variation Id: 801437
ClinVar RCV Id: RCV000986237 RCV001815014 RCV001519677
dbSNP Id: rs141936187
ExAC: 1:11308103 C / T
gnomAD v2: 1-11308103-C-T
gnomAD v3: 1-11248046-C-T
gnomAD v4: 1-11248046-C-T
MyVariant Identifiers: chr1:g.11308103C>T (hg19) chr1:g.11248046C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11248046C>T , CM000663.2:g.11248046C>T GRCh38
NC_000001.10:g.11308103C>T , CM000663.1:g.11308103C>T GRCh37
NC_000001.9:g.11230690C>T NCBI36
NG_033239.1:g.19506G>A , LRG_734:g.19506G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703118.1:c.889G>A ENSP00000515181.1:p.Asp297Asn
ENST00000703132.1:n.870G>A
ENST00000703140.1:c.889G>A ENSP00000515197.1:p.Asp297Asn
ENST00000703141.1:c.889G>A ENSP00000515198.1:p.Asp297Asn
ENST00000703142.1:c.889G>A ENSP00000515199.1:p.Asp297Asn
ENST00000703143.1:c.889G>A ENSP00000515200.1:p.Asp297Asn
ENST00000361445.9:c.889G>A MANE Select ENSP00000354558.4:p.Asp297Asn
ENST00000361445.8:c.889G>A ENSP00000354558.4:p.Asp297Asn
NM_004958.3:c.889G>A , LRG_734t1:c.889G>A NP_004949.1:p.Asp297Asn
XM_005263438.1:c.889G>A XP_005263495.1:p.Asp297Asn
XM_011541166.1:c.889G>A XP_011539468.1:p.Asp297Asn
XR_244786.1:n.1010G>A
XM_005263438.2:c.889G>A XP_005263495.1:p.Asp297Asn
XM_011541166.2:c.889G>A XP_011539468.1:p.Asp297Asn
XM_017000900.1:c.208G>A XP_016856389.1:p.Asp70Asn
XM_017000901.1:c.-251G>A XP_016856390.1:n.-251G>A
XM_017000902.1:c.889G>A XP_016856391.1:p.Asp297Asn
XM_024446187.1:c.889G>A XP_024301955.1:p.Asp297Asn
XR_001737087.1:n.1010G>A
NM_004958.4:c.889G>A MANE Select NP_004949.1:p.Asp297Asn
NM_001386500.1:c.889G>A NP_001373429.1:p.Asp297Asn
NM_001386501.1:c.-251G>A NP_001373430.1:n.-251G>A
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