Canonical Allele Identifier: CA359563337
Gene: RICTOR HGNC NCBI

Linked Data

gnomAD v4: 5-38955599-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.38955599G>T , CM000667.2:g.38955599G>T GRCh38
NC_000005.9:g.38955701G>T , CM000667.1:g.38955701G>T GRCh37
NC_000005.8:g.38991458G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296782.10:c.2605C>A ENSP00000296782.5:p.Gln869Lys
ENST00000503698.2:c.565C>A ENSP00000518563.1:p.Gln189Lys
ENST00000514735.2:c.2557C>A ENSP00000423162.2:p.Gln853Lys
ENST00000711063.1:c.2605C>A ENSP00000518562.1:p.Gln869Lys
ENST00000357387.8:c.2605C>A MANE Select ENSP00000349959.3:p.Gln869Lys
ENST00000296782.9:c.2605C>A ENSP00000296782.5:p.Gln869Lys
ENST00000357387.7:c.2605C>A ENSP00000349959.3:p.Gln869Lys
ENST00000503698.1:n.565C>A
ENST00000511516.5:c.*1829C>A ENSP00000423019.1:n.*1829C>A
NM_001285439.1:c.2605C>A NP_001272368.1:p.Gln869Lys
NM_001285440.1:c.1750C>A NP_001272369.1:p.Gln584Lys
NM_152756.4:c.2605C>A NP_689969.2:p.Gln869Lys
XM_006714463.2:c.2605C>A XP_006714526.1:p.Gln869Lys
XM_011514005.1:c.2605C>A XP_011512307.1:p.Gln869Lys
XM_011514006.1:c.2416C>A XP_011512308.1:p.Gln806Lys
XM_011514007.1:c.1750C>A XP_011512309.1:p.Gln584Lys
XM_006714463.3:c.2605C>A XP_006714526.1:p.Gln869Lys
XM_011514005.2:c.2605C>A XP_011512307.1:p.Gln869Lys
XM_011514006.3:c.2416C>A XP_011512308.1:p.Gln806Lys
XM_017009311.1:c.2557C>A XP_016864800.1:p.Gln853Lys
XM_017009312.1:c.2557C>A XP_016864801.1:p.Gln853Lys
XM_017009313.1:c.2446C>A XP_016864802.1:p.Gln816Lys
XM_017009314.2:c.1750C>A XP_016864803.1:p.Gln584Lys
XM_017009315.2:c.1750C>A XP_016864804.1:p.Gln584Lys
NM_152756.5:c.2605C>A MANE Select NP_689969.2:p.Gln869Lys
NM_001285439.2:c.2605C>A NP_001272368.1:p.Gln869Lys
NM_001285440.2:c.1750C>A NP_001272369.1:p.Gln584Lys