Canonical Allele Identifier: CA14493411
Gene: RPTOR HGNC NCBI

Linked Data

dbSNP Id: rs7215564
gnomAD v2: 17-78737287-C-T
gnomAD v3: 17-80763487-C-T
gnomAD v4: 17-80763487-C-T
MyVariant Identifiers: chr17:g.78737287C>T (hg19) chr17:g.80763487C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80763487C>T , CM000679.2:g.80763487C>T GRCh38
NC_000017.10:g.78737287C>T , CM000679.1:g.78737287C>T GRCh37
NC_000017.9:g.76351882C>T NCBI36
NG_013034.1:g.223663C>T
NG_013034.2:g.223663C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000697423.1:c.884+9302C>T ENSP00000513305.1:n.884+9302C>T
ENST00000306801.8:c.830+9302C>T MANE Select ENSP00000307272.3:n.830+9302C>T
ENST00000306801.7:c.830+9302C>T ENSP00000307272.3:n.830+9302C>T
ENST00000544334.6:c.830+9302C>T ENSP00000442479.2:n.830+9302C>T
ENST00000570891.5:c.830+9302C>T ENSP00000460136.1:n.830+9302C>T
ENST00000574767.5:c.*459+9302C>T ENSP00000459701.1:n.*459+9302C>T
ENST00000575542.5:n.317+9302C>T
ENST00000577161.5:n.1629+9302C>T
NM_001163034.1:c.830+9302C>T NP_001156506.1:n.830+9302C>T
NM_020761.2:c.830+9302C>T NP_065812.1:n.830+9302C>T
NM_020761.3:c.830+9302C>T MANE Select NP_065812.1:n.830+9302C>T
NM_001163034.2:c.830+9302C>T NP_001156506.1:n.830+9302C>T
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