Canonical Allele Identifier: CA401423875

Gene: RPTOR

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80891747G>A , CM000679.2:g.80891747G>A	GRCh38
NC_000017.10:g.78865547G>A , CM000679.1:g.78865547G>A	GRCh37
NC_000017.9:g.76480142G>A	NCBI36
NG_013034.1:g.351923G>A
NG_013034.2:g.351923G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020761.3:c.2011G>A MANE Select	NP_065812.1:p.Val671Met
ENST00000306801.8:c.2011G>A MANE Select	ENSP00000307272.3:p.Val671Met
NM_001163034.1:c.1537G>A	NP_001156506.1:p.Val513Met
NM_001163034.2:c.1537G>A	NP_001156506.1:p.Val513Met
NM_020761.2:c.2011G>A	NP_065812.1:p.Val671Met
ENST00000306801.7:c.2011G>A	ENSP00000307272.3:p.Val671Met
ENST00000544334.6:c.1537G>A	ENSP00000442479.2:p.Val513Met
ENST00000575542.5:n.1498G>A
ENST00000577161.5:n.2810G>A
ENST00000697423.1:c.2065G>A	ENSP00000513305.1:p.Val689Met