Canonical Allele Identifier: CA3245097
Gene: RICTOR HGNC NCBI

Linked Data

dbSNP Id: rs766778019
gnomAD v2: 5-38955729-A-G
gnomAD v4: 5-38955627-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.38955627A>G , CM000667.2:g.38955627A>G GRCh38
NC_000005.9:g.38955729A>G , CM000667.1:g.38955729A>G GRCh37
NC_000005.8:g.38991486A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296782.10:c.2577T>C ENSP00000296782.5:p.Asp859=
ENST00000503698.2:c.537T>C ENSP00000518563.1:p.Asp179=
ENST00000514735.2:c.2529T>C ENSP00000423162.2:p.Asp843=
ENST00000711063.1:c.2577T>C ENSP00000518562.1:p.Asp859=
ENST00000357387.8:c.2577T>C MANE Select ENSP00000349959.3:p.Asp859=
ENST00000296782.9:c.2577T>C ENSP00000296782.5:p.Asp859=
ENST00000357387.7:c.2577T>C ENSP00000349959.3:p.Asp859=
ENST00000503698.1:n.537T>C
ENST00000511516.5:c.*1801T>C ENSP00000423019.1:n.*1801T>C
NM_001285439.1:c.2577T>C NP_001272368.1:p.Asp859=
NM_001285440.1:c.1722T>C NP_001272369.1:p.Asp574=
NM_152756.4:c.2577T>C NP_689969.2:p.Asp859=
XM_006714463.2:c.2577T>C XP_006714526.1:p.Asp859=
XM_011514005.1:c.2577T>C XP_011512307.1:p.Asp859=
XM_011514006.1:c.2388T>C XP_011512308.1:p.Asp796=
XM_011514007.1:c.1722T>C XP_011512309.1:p.Asp574=
XM_006714463.3:c.2577T>C XP_006714526.1:p.Asp859=
XM_011514005.2:c.2577T>C XP_011512307.1:p.Asp859=
XM_011514006.3:c.2388T>C XP_011512308.1:p.Asp796=
XM_017009311.1:c.2529T>C XP_016864800.1:p.Asp843=
XM_017009312.1:c.2529T>C XP_016864801.1:p.Asp843=
XM_017009313.1:c.2418T>C XP_016864802.1:p.Asp806=
XM_017009314.2:c.1722T>C XP_016864803.1:p.Asp574=
XM_017009315.2:c.1722T>C XP_016864804.1:p.Asp574=
NM_152756.5:c.2577T>C MANE Select NP_689969.2:p.Asp859=
NM_001285439.2:c.2577T>C NP_001272368.1:p.Asp859=
NM_001285440.2:c.1722T>C NP_001272369.1:p.Asp574=