Canonical Allele Identifier: CA15891337
Gene: RPTOR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80650141G>A , CM000679.2:g.80650141G>A GRCh38
NC_000017.10:g.78623941G>A , CM000679.1:g.78623941G>A GRCh37
NC_000017.9:g.76238536G>A NCBI36
NG_013034.1:g.110317G>A
NG_013034.2:g.110317G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697423.1:c.402+6331G>A ENSP00000513305.1:n.402+6331G>A
ENST00000306801.8:c.348+6331G>A MANE Select ENSP00000307272.3:n.348+6331G>A
ENST00000649732.1:n.1104+6331G>A
ENST00000306801.7:c.348+6331G>A ENSP00000307272.3:n.348+6331G>A
ENST00000544334.6:c.348+6331G>A ENSP00000442479.2:n.348+6331G>A
ENST00000570891.5:c.348+6331G>A ENSP00000460136.1:n.348+6331G>A
ENST00000574767.5:c.265+24348G>A ENSP00000459701.1:n.265+24348G>A
ENST00000577161.5:n.1147+6331G>A
NM_001163034.1:c.348+6331G>A NP_001156506.1:n.348+6331G>A
NM_020761.2:c.348+6331G>A NP_065812.1:n.348+6331G>A
NM_020761.3:c.348+6331G>A MANE Select NP_065812.1:n.348+6331G>A
NM_001163034.2:c.348+6331G>A NP_001156506.1:n.348+6331G>A
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