Canonical Allele Identifier: CA3245107
Gene: RICTOR HGNC NCBI

Linked Data

dbSNP Id: rs2043112
gnomAD v2: 5-38955796-G-T
gnomAD v4: 5-38955694-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.38955694G>T , CM000667.2:g.38955694G>T GRCh38
NC_000005.9:g.38955796G>T , CM000667.1:g.38955796G>T GRCh37
NC_000005.8:g.38991553G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296782.10:c.2510C>A ENSP00000296782.5:p.Ser837Tyr
ENST00000503698.2:c.470C>A ENSP00000518563.1:p.Ser157Tyr
ENST00000514735.2:c.2462C>A ENSP00000423162.2:p.Ser821Tyr
ENST00000711063.1:c.2510C>A ENSP00000518562.1:p.Ser837Tyr
ENST00000357387.8:c.2510C>A MANE Select ENSP00000349959.3:p.Ser837Tyr
ENST00000296782.9:c.2510C>A ENSP00000296782.5:p.Ser837Tyr
ENST00000357387.7:c.2510C>A ENSP00000349959.3:p.Ser837Tyr
ENST00000503698.1:n.470C>A
ENST00000511516.5:c.*1734C>A ENSP00000423019.1:n.*1734C>A
NM_001285439.1:c.2510C>A NP_001272368.1:p.Ser837Tyr
NM_001285440.1:c.1655C>A NP_001272369.1:p.Ser552Tyr
NM_152756.4:c.2510C>A NP_689969.2:p.Ser837Tyr
XM_006714463.2:c.2510C>A XP_006714526.1:p.Ser837Tyr
XM_011514005.1:c.2510C>A XP_011512307.1:p.Ser837Tyr
XM_011514006.1:c.2321C>A XP_011512308.1:p.Ser774Tyr
XM_011514007.1:c.1655C>A XP_011512309.1:p.Ser552Tyr
XM_006714463.3:c.2510C>A XP_006714526.1:p.Ser837Tyr
XM_011514005.2:c.2510C>A XP_011512307.1:p.Ser837Tyr
XM_011514006.3:c.2321C>A XP_011512308.1:p.Ser774Tyr
XM_017009311.1:c.2462C>A XP_016864800.1:p.Ser821Tyr
XM_017009312.1:c.2462C>A XP_016864801.1:p.Ser821Tyr
XM_017009313.1:c.2351C>A XP_016864802.1:p.Ser784Tyr
XM_017009314.2:c.1655C>A XP_016864803.1:p.Ser552Tyr
XM_017009315.2:c.1655C>A XP_016864804.1:p.Ser552Tyr
NM_152756.5:c.2510C>A MANE Select NP_689969.2:p.Ser837Tyr
NM_001285439.2:c.2510C>A NP_001272368.1:p.Ser837Tyr
NM_001285440.2:c.1655C>A NP_001272369.1:p.Ser552Tyr