Canonical Allele Identifier: CA14427351

Gene: RPTOR

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80741808A>G , CM000679.2:g.80741808A>G	GRCh38
NC_000017.10:g.78715608A>G , CM000679.1:g.78715608A>G	GRCh37
NC_000017.9:g.76330203A>G	NCBI36
NG_013034.1:g.201984A>G
NG_013034.2:g.201984A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697423.1:c.708+11102A>G	ENSP00000513305.1:n.708+11102A>G
ENST00000306801.8:c.654+11102A>G MANE Select	ENSP00000307272.3:n.654+11102A>G
ENST00000649732.1:n.1410+11102A>G
ENST00000306801.7:c.654+11102A>G	ENSP00000307272.3:n.654+11102A>G
ENST00000544334.6:c.654+11102A>G	ENSP00000442479.2:n.654+11102A>G
ENST00000570891.5:c.654+11102A>G	ENSP00000460136.1:n.654+11102A>G
ENST00000572733.1:n.329+11102A>G
ENST00000574767.5:c.*283+11102A>G	ENSP00000459701.1:n.*283+11102A>G
ENST00000577161.5:n.1453+11102A>G
NM_001163034.1:c.654+11102A>G	NP_001156506.1:n.654+11102A>G
NM_020761.2:c.654+11102A>G	NP_065812.1:n.654+11102A>G
NM_020761.3:c.654+11102A>G MANE Select	NP_065812.1:n.654+11102A>G
NM_001163034.2:c.654+11102A>G	NP_001156506.1:n.654+11102A>G