Canonical Allele Identifier: CA8825433
Gene: RPTOR HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.80925422C>T
GRCh37 chr17:g.78899222C>T
Revel Score:
ENST00000306801 (MANE Select) 0.066
ENST00000544334 0.066
gnomAD v2:
17:78899222 C / T
gnomAD v3:
17:80925422 C / T
gnomAD v4:
chr17-80925422-C-T
Joint Max Group AF 0.0000451 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00004438 (NFE)
ClinVar RCV:
RCV004210379
ClinVar Variation:
2373361
dbSNP:
150835528
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80925422C>T , CM000679.2:g.80925422C>T GRCh38
NC_000017.10:g.78899222C>T , CM000679.1:g.78899222C>T GRCh37
NC_000017.9:g.76513817C>T NCBI36
NG_013034.1:g.385598C>T
NG_013034.2:g.385598C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697423.1:c.2915C>T ENSP00000513305.1:p.Thr972Met
ENST00000306801.8:c.2861C>T MANE Select ENSP00000307272.3:p.Thr954Met
ENST00000306801.7:c.2861C>T ENSP00000307272.3:p.Thr954Met
ENST00000544334.6:c.2387C>T ENSP00000442479.2:p.Thr796Met
ENST00000575542.5:n.2348C>T
NM_001163034.1:c.2387C>T NP_001156506.1:p.Thr796Met
NM_020761.2:c.2861C>T NP_065812.1:p.Thr954Met
NM_020761.3:c.2861C>T MANE Select NP_065812.1:p.Thr954Met
NM_001163034.2:c.2387C>T NP_001156506.1:p.Thr796Met
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