Canonical Allele Identifier: CA359563830
Gene: RICTOR HGNC NCBI

Linked Data

gnomAD v4: 5-38955695-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.38955695A>G , CM000667.2:g.38955695A>G GRCh38
NC_000005.9:g.38955797A>G , CM000667.1:g.38955797A>G GRCh37
NC_000005.8:g.38991554A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296782.10:c.2509T>C ENSP00000296782.5:p.Ser837Pro
ENST00000503698.2:c.469T>C ENSP00000518563.1:p.Ser157Pro
ENST00000514735.2:c.2461T>C ENSP00000423162.2:p.Ser821Pro
ENST00000711063.1:c.2509T>C ENSP00000518562.1:p.Ser837Pro
ENST00000357387.8:c.2509T>C MANE Select ENSP00000349959.3:p.Ser837Pro
ENST00000296782.9:c.2509T>C ENSP00000296782.5:p.Ser837Pro
ENST00000357387.7:c.2509T>C ENSP00000349959.3:p.Ser837Pro
ENST00000503698.1:n.469T>C
ENST00000511516.5:c.*1733T>C ENSP00000423019.1:n.*1733T>C
NM_001285439.1:c.2509T>C NP_001272368.1:p.Ser837Pro
NM_001285440.1:c.1654T>C NP_001272369.1:p.Ser552Pro
NM_152756.4:c.2509T>C NP_689969.2:p.Ser837Pro
XM_006714463.2:c.2509T>C XP_006714526.1:p.Ser837Pro
XM_011514005.1:c.2509T>C XP_011512307.1:p.Ser837Pro
XM_011514006.1:c.2320T>C XP_011512308.1:p.Ser774Pro
XM_011514007.1:c.1654T>C XP_011512309.1:p.Ser552Pro
XM_006714463.3:c.2509T>C XP_006714526.1:p.Ser837Pro
XM_011514005.2:c.2509T>C XP_011512307.1:p.Ser837Pro
XM_011514006.3:c.2320T>C XP_011512308.1:p.Ser774Pro
XM_017009311.1:c.2461T>C XP_016864800.1:p.Ser821Pro
XM_017009312.1:c.2461T>C XP_016864801.1:p.Ser821Pro
XM_017009313.1:c.2350T>C XP_016864802.1:p.Ser784Pro
XM_017009314.2:c.1654T>C XP_016864803.1:p.Ser552Pro
XM_017009315.2:c.1654T>C XP_016864804.1:p.Ser552Pro
NM_152756.5:c.2509T>C MANE Select NP_689969.2:p.Ser837Pro
NM_001285439.2:c.2509T>C NP_001272368.1:p.Ser837Pro
NM_001285440.2:c.1654T>C NP_001272369.1:p.Ser552Pro