Specific Information of Variant: 8-123768584-C-A
General Information
Variant ID8-123768584-C-A
Genome Positionchr8:123768584
ClinVar.

Related Small Proteins
SmProt IDLengthStart CodonStrandBlocksConsequence
SPROHSA2049859ATG+123768564-123768594Non-Synonymous p.S7Y
SPROHSA25166937CTG+123768541-123768655Non-Synonymous p.L15M
SPROHSA30180726CTG+123768574-123768655Non-Synonymous p.L4M

Data sources
SourceAllele CountAllele Frequency
gnomAD3788910.55117
1KGP325830.51577
TOPMed686340.54659
GAsP21530.618
NyuWa38930.64905
Ribosome profilingSRR2818787; SRR2818791; SRR3208885; SRR3208921; SRR3317843; SRR3575897; SRR3575898; SRR4450331; SRR4450332; SRR5047770; SRR5047771; SRR5047772; SRR5227295; SRR5227296; SRR5239050; SRR5239051; SRR5239052; SRR5239056; SRR5239057; SRR5239058; SRR5350740; SRR5350744; SRR5350745; SRR5382423; SRR5382424; SRR6053333; SRR6053334; SRR6838651; SRR7207252; SRR8907185; SRR8310196; SRR8310197; SRR8310198; SRR8310199; SRR8310200; SRR1333393; SRR1333394; SRR627622; SRR627623; SRR627624; SRR627625; SRR627626; SRR627627; SRR810100; SRR810101; SRR810102; SRR810103; SRR810104; SRR1795425; SRR1795427; SRR1795428; SRR964946; SRR618770

5'UTR Effect
Variant TypeuAUG_gained
GeneFAM91A1
ContextCTTCTGC
Kozak SequenceCTTATGC
Kozak StrengthWeak
EffectuORF_created
Distance to CDS119
Distance to Alt Stop.