Canonical Allele Identifier: CA3245093
Gene: RICTOR HGNC NCBI

Linked Data

dbSNP Id: rs767673010
gnomAD v2: 5-38955710-G-A
gnomAD v3: 5-38955608-G-A
gnomAD v4: 5-38955608-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.38955608G>A , CM000667.2:g.38955608G>A GRCh38
NC_000005.9:g.38955710G>A , CM000667.1:g.38955710G>A GRCh37
NC_000005.8:g.38991467G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296782.10:c.2596C>T ENSP00000296782.5:p.Arg866Trp
ENST00000503698.2:c.556C>T ENSP00000518563.1:p.Arg186Trp
ENST00000514735.2:c.2548C>T ENSP00000423162.2:p.Arg850Trp
ENST00000711063.1:c.2596C>T ENSP00000518562.1:p.Arg866Trp
ENST00000357387.8:c.2596C>T MANE Select ENSP00000349959.3:p.Arg866Trp
ENST00000296782.9:c.2596C>T ENSP00000296782.5:p.Arg866Trp
ENST00000357387.7:c.2596C>T ENSP00000349959.3:p.Arg866Trp
ENST00000503698.1:n.556C>T
ENST00000511516.5:c.*1820C>T ENSP00000423019.1:n.*1820C>T
NM_001285439.1:c.2596C>T NP_001272368.1:p.Arg866Trp
NM_001285440.1:c.1741C>T NP_001272369.1:p.Arg581Trp
NM_152756.4:c.2596C>T NP_689969.2:p.Arg866Trp
XM_006714463.2:c.2596C>T XP_006714526.1:p.Arg866Trp
XM_011514005.1:c.2596C>T XP_011512307.1:p.Arg866Trp
XM_011514006.1:c.2407C>T XP_011512308.1:p.Arg803Trp
XM_011514007.1:c.1741C>T XP_011512309.1:p.Arg581Trp
XM_006714463.3:c.2596C>T XP_006714526.1:p.Arg866Trp
XM_011514005.2:c.2596C>T XP_011512307.1:p.Arg866Trp
XM_011514006.3:c.2407C>T XP_011512308.1:p.Arg803Trp
XM_017009311.1:c.2548C>T XP_016864800.1:p.Arg850Trp
XM_017009312.1:c.2548C>T XP_016864801.1:p.Arg850Trp
XM_017009313.1:c.2437C>T XP_016864802.1:p.Arg813Trp
XM_017009314.2:c.1741C>T XP_016864803.1:p.Arg581Trp
XM_017009315.2:c.1741C>T XP_016864804.1:p.Arg581Trp
NM_152756.5:c.2596C>T MANE Select NP_689969.2:p.Arg866Trp
NM_001285439.2:c.2596C>T NP_001272368.1:p.Arg866Trp
NM_001285440.2:c.1741C>T NP_001272369.1:p.Arg581Trp