Canonical Allele Identifier: CA359563842

Gene: RICTOR

Linked Data

• dbSNP Id: rs995762468
• gnomAD v2: 5-38955802-T-A
• gnomAD v3: 5-38955700-T-A
• gnomAD v4: 5-38955700-T-A
• MyVariant Identifiers: chr5:g.38955802T>A (hg19) ; chr5:g.38955700T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38955700T>A , CM000667.2:g.38955700T>A	GRCh38
NC_000005.9:g.38955802T>A , CM000667.1:g.38955802T>A	GRCh37
NC_000005.8:g.38991559T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296782.10:c.2504A>T	ENSP00000296782.5:p.Tyr835Phe
ENST00000503698.2:c.464A>T	ENSP00000518563.1:p.Tyr155Phe
ENST00000514735.2:c.2456A>T	ENSP00000423162.2:p.Tyr819Phe
ENST00000711063.1:c.2504A>T	ENSP00000518562.1:p.Tyr835Phe
ENST00000357387.8:c.2504A>T MANE Select	ENSP00000349959.3:p.Tyr835Phe
ENST00000296782.9:c.2504A>T	ENSP00000296782.5:p.Tyr835Phe
ENST00000357387.7:c.2504A>T	ENSP00000349959.3:p.Tyr835Phe
ENST00000503698.1:n.464A>T
ENST00000511516.5:c.*1728A>T	ENSP00000423019.1:n.*1728A>T
NM_001285439.1:c.2504A>T	NP_001272368.1:p.Tyr835Phe
NM_001285440.1:c.1649A>T	NP_001272369.1:p.Tyr550Phe
NM_152756.4:c.2504A>T	NP_689969.2:p.Tyr835Phe
XM_006714463.2:c.2504A>T	XP_006714526.1:p.Tyr835Phe
XM_011514005.1:c.2504A>T	XP_011512307.1:p.Tyr835Phe
XM_011514006.1:c.2315A>T	XP_011512308.1:p.Tyr772Phe
XM_011514007.1:c.1649A>T	XP_011512309.1:p.Tyr550Phe
XM_006714463.3:c.2504A>T	XP_006714526.1:p.Tyr835Phe
XM_011514005.2:c.2504A>T	XP_011512307.1:p.Tyr835Phe
XM_011514006.3:c.2315A>T	XP_011512308.1:p.Tyr772Phe
XM_017009311.1:c.2456A>T	XP_016864800.1:p.Tyr819Phe
XM_017009312.1:c.2456A>T	XP_016864801.1:p.Tyr819Phe
XM_017009313.1:c.2345A>T	XP_016864802.1:p.Tyr782Phe
XM_017009314.2:c.1649A>T	XP_016864803.1:p.Tyr550Phe
XM_017009315.2:c.1649A>T	XP_016864804.1:p.Tyr550Phe
NM_152756.5:c.2504A>T MANE Select	NP_689969.2:p.Tyr835Phe
NM_001285439.2:c.2504A>T	NP_001272368.1:p.Tyr835Phe
NM_001285440.2:c.1649A>T	NP_001272369.1:p.Tyr550Phe