Canonical Allele Identifier: CA2278112566

Gene: RPTOR

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80715103A>T , CM000679.2:g.80715103A>T	GRCh38
NC_000017.10:g.78688903A>T , CM000679.1:g.78688903A>T	GRCh37
NC_000017.9:g.76303498A>T	NCBI36
NG_013034.1:g.175279A>T
NG_013034.2:g.175279A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697423.1:c.561+7104A>T	ENSP00000513305.1:n.561+7104A>T
ENST00000306801.8:c.507+7104A>T MANE Select	ENSP00000307272.3:n.507+7104A>T
ENST00000649732.1:n.1263+7104A>T
ENST00000306801.7:c.507+7104A>T	ENSP00000307272.3:n.507+7104A>T
ENST00000544334.6:c.507+7104A>T	ENSP00000442479.2:n.507+7104A>T
ENST00000570891.5:c.507+7104A>T	ENSP00000460136.1:n.507+7104A>T
ENST00000572733.1:n.182+5989A>T
ENST00000574767.5:c.*136+7104A>T	ENSP00000459701.1:n.*136+7104A>T
ENST00000577161.5:n.1306+7104A>T
NM_001163034.1:c.507+7104A>T	NP_001156506.1:n.507+7104A>T
NM_020761.2:c.507+7104A>T	NP_065812.1:n.507+7104A>T
NM_020761.3:c.507+7104A>T MANE Select	NP_065812.1:n.507+7104A>T
NM_001163034.2:c.507+7104A>T	NP_001156506.1:n.507+7104A>T