Canonical Allele Identifier: CA3245092

Gene: RICTOR

Linked Data

• dbSNP Id: rs762042928
• ExAC: 5:38955709 C / T
• gnomAD v2: 5-38955709-C-T
• gnomAD v3: 5-38955607-C-T
• gnomAD v4: 5-38955607-C-T
• MyVariant Identifiers: chr5:g.38955709C>T (hg19) ; chr5:g.38955607C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38955607C>T , CM000667.2:g.38955607C>T	GRCh38
NC_000005.9:g.38955709C>T , CM000667.1:g.38955709C>T	GRCh37
NC_000005.8:g.38991466C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296782.10:c.2597G>A	ENSP00000296782.5:p.Arg866Gln
ENST00000503698.2:c.557G>A	ENSP00000518563.1:p.Arg186Gln
ENST00000514735.2:c.2549G>A	ENSP00000423162.2:p.Arg850Gln
ENST00000711063.1:c.2597G>A	ENSP00000518562.1:p.Arg866Gln
ENST00000357387.8:c.2597G>A MANE Select	ENSP00000349959.3:p.Arg866Gln
ENST00000296782.9:c.2597G>A	ENSP00000296782.5:p.Arg866Gln
ENST00000357387.7:c.2597G>A	ENSP00000349959.3:p.Arg866Gln
ENST00000503698.1:n.557G>A
ENST00000511516.5:c.*1821G>A	ENSP00000423019.1:n.*1821G>A
NM_001285439.1:c.2597G>A	NP_001272368.1:p.Arg866Gln
NM_001285440.1:c.1742G>A	NP_001272369.1:p.Arg581Gln
NM_152756.4:c.2597G>A	NP_689969.2:p.Arg866Gln
XM_006714463.2:c.2597G>A	XP_006714526.1:p.Arg866Gln
XM_011514005.1:c.2597G>A	XP_011512307.1:p.Arg866Gln
XM_011514006.1:c.2408G>A	XP_011512308.1:p.Arg803Gln
XM_011514007.1:c.1742G>A	XP_011512309.1:p.Arg581Gln
XM_006714463.3:c.2597G>A	XP_006714526.1:p.Arg866Gln
XM_011514005.2:c.2597G>A	XP_011512307.1:p.Arg866Gln
XM_011514006.3:c.2408G>A	XP_011512308.1:p.Arg803Gln
XM_017009311.1:c.2549G>A	XP_016864800.1:p.Arg850Gln
XM_017009312.1:c.2549G>A	XP_016864801.1:p.Arg850Gln
XM_017009313.1:c.2438G>A	XP_016864802.1:p.Arg813Gln
XM_017009314.2:c.1742G>A	XP_016864803.1:p.Arg581Gln
XM_017009315.2:c.1742G>A	XP_016864804.1:p.Arg581Gln
NM_152756.5:c.2597G>A MANE Select	NP_689969.2:p.Arg866Gln
NM_001285439.2:c.2597G>A	NP_001272368.1:p.Arg866Gln
NM_001285440.2:c.1742G>A	NP_001272369.1:p.Arg581Gln