Canonical Allele Identifier: CA8824884
Gene: RPTOR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80880423A>G , CM000679.2:g.80880423A>G GRCh38
NC_000017.10:g.78854223A>G , CM000679.1:g.78854223A>G GRCh37
NC_000017.9:g.76468818A>G NCBI36
NG_013034.1:g.340599A>G
NG_013034.2:g.340599A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697423.1:c.1572A>G ENSP00000513305.1:p.Gln524=
ENST00000306801.8:c.1518A>G MANE Select ENSP00000307272.3:p.Gln506=
ENST00000306801.7:c.1518A>G ENSP00000307272.3:p.Gln506=
ENST00000544334.6:c.1510-11297A>G ENSP00000442479.2:n.1510-11297A>G
ENST00000575542.5:n.1005A>G
ENST00000577161.5:n.2317A>G
NM_001163034.1:c.1510-11297A>G NP_001156506.1:n.1510-11297A>G
NM_020761.2:c.1518A>G NP_065812.1:p.Gln506=
NM_020761.3:c.1518A>G MANE Select NP_065812.1:p.Gln506=
NM_001163034.2:c.1510-11297A>G NP_001156506.1:n.1510-11297A>G
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