UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23560277del | CA16043698 | NPC1 | c.839del (p.Leu280CysfsTer30) n.753del c.70del c.374del (p.Leu125CysfsTer30) | ClinVar dbSNP |
| 18 | g.23560275A= | CA2290175679 | NPC1 | c.837T= (p.Phe279=) n.751T= c.68T= c.372T= (p.Phe124=) | |
| 18 | g.23560275A>C | CA401780981 | NPC1 | c.837T>G (p.Phe279Leu) n.751T>G c.68T>G c.372T>G (p.Phe124Leu) | |
| 18 | g.23560275A>G | CA503522010 | NPC1 | c.837T>C (p.Phe279=) n.751T>C c.68T>C c.372T>C (p.Phe124=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23560275A>T | CA401780983 | NPC1 | c.837T>A (p.Phe279Leu) n.751T>A c.68T>A c.372T>A (p.Phe124Leu) | |
| 18 | g.23560276A>C | CA401780986 | NPC1 | c.836T>G (p.Phe279Cys) n.750T>G c.67T>G c.371T>G (p.Phe124Cys) | |
| 18 | g.23560276A>G | CA401780988 | NPC1 | c.836T>C (p.Phe279Ser) n.750T>C c.67T>C c.371T>C (p.Phe124Ser) | |
| 18 | g.23560276A>T | CA401780989 | NPC1 | c.836T>A (p.Phe279Tyr) n.750T>A c.67T>A c.371T>A (p.Phe124Tyr) | |
| 18 | g.23560277A>C | CA401780992 | NPC1 | c.835T>G (p.Phe279Val) n.749T>G c.66T>G c.370T>G (p.Phe124Val) | |
| 18 | g.23560277A>G | CA401780994 | NPC1 | c.835T>C (p.Phe279Leu) n.749T>C c.66T>C c.370T>C (p.Phe124Leu) | |
| 18 | g.23560277A>T | CA401780996 | NPC1 | c.835T>A (p.Phe279Ile) n.749T>A c.66T>A c.370T>A (p.Phe124Ile) | |
| 18 | g.23560278C>A | CA503522049 | NPC1 | c.834G>T (p.Ala278=) n.748G>T c.65G>T c.369G>T (p.Ala123=) | |
| 18 | g.23560278C= | CA2290175680 | NPC1 | c.834G= (p.Ala278=) n.748G= c.65G= c.369G= (p.Ala123=) | |
| 18 | g.23560278C>G | CA503522051 | NPC1 | c.834G>C (p.Ala278=) n.748G>C c.65G>C c.369G>C (p.Ala123=) | |
| 18 | g.23560278C>T | CA8913630 | NPC1 | c.834G>A (p.Ala278=) n.748G>A c.65G>A c.369G>A (p.Ala123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.23560279G>A | CA8913631 | NPC1 | c.833C>T (p.Ala278Val) n.747C>T c.64C>T c.368C>T (p.Ala123Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23560279G>C | CA401781002 | NPC1 | c.833C>G (p.Ala278Gly) n.747C>G c.64C>G c.368C>G (p.Ala123Gly) | |
| 18 | g.23560279G= | CA2290175681 | NPC1 | c.833C= (p.Ala278=) n.747C= c.64C= c.368C= (p.Ala123=) | |
| 18 | g.23560279G>T | CA8913632 | NPC1 | c.833C>A (p.Ala278Glu) n.747C>A c.64C>A c.368C>A (p.Ala123Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23560280C>A | CA401781011 | NPC1 | c.832G>T (p.Ala278Ser) n.746G>T c.63G>T c.367G>T (p.Ala123Ser) | |
| 18 | g.23560280C>G | CA401781013 | NPC1 | c.832G>C (p.Ala278Pro) n.746G>C c.63G>C c.367G>C (p.Ala123Pro) | |
| 18 | g.23560280C>T | CA401781015 | NPC1 | c.832G>A (p.Ala278Thr) n.746G>A c.63G>A c.367G>A (p.Ala123Thr) | gnomAD v4 |
| 18 | g.23560281dup | CA297074601 | NPC1 | c.832dup (p.Ala278GlyfsTer30) n.746dup c.63dup c.367dup (p.Ala123GlyfsTer30) | dbSNP |
| 18 | g.23560281C>A | CA401781017 | NPC1 | c.831G>T (p.Met277Ile) n.745G>T c.62G>T c.366G>T (p.Met122Ile) | |
| 18 | g.23560281C>G | CA401781020 | NPC1 | c.831G>C (p.Met277Ile) n.745G>C c.62G>C c.366G>C (p.Met122Ile) | gnomAD v4 |
| 18 | g.23560281C>T | CA401781022 | NPC1 | c.831G>A (p.Met277Ile) n.745G>A c.62G>A c.366G>A (p.Met122Ile) | |
| 18 | g.23560282del | CA2641271867 | NPC1 | c.830del (p.Met277ArgfsTer?) n.744del c.61del c.365del (p.Met122ArgfsTer?) | gnomAD v4 |
| 18 | g.23560282A>C | CA401781025 | NPC1 | c.830T>G (p.Met277Arg) n.744T>G c.61T>G c.365T>G (p.Met122Arg) | |
| 18 | g.23560282A>G | CA401781026 | NPC1 | c.830T>C (p.Met277Thr) n.744T>C c.61T>C c.365T>C (p.Met122Thr) | |
| 18 | g.23560282A>T | CA401781028 | NPC1 | c.830T>A (p.Met277Lys) n.744T>A c.61T>A c.365T>A (p.Met122Lys) | |
| 18 | g.23560283T>A | CA401781034 | NPC1 | c.829A>T (p.Met277Leu) n.743A>T c.60A>T c.364A>T (p.Met122Leu) | |
| 18 | g.23560283T>C | CA8913633 | NPC1 | c.829A>G (p.Met277Val) n.743A>G c.60A>G c.364A>G (p.Met122Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23560283T>G | CA401781032 | NPC1 | c.829A>C (p.Met277Leu) n.743A>C c.60A>C c.364A>C (p.Met122Leu) | gnomAD v4 |
| 18 | g.23560283T= | CA2290175682 | NPC1 | c.829A= (p.Met277=) n.743A= c.60A= c.364A= (p.Met122=) | |
| 18 | g.23560284G>A | CA503522057 | NPC1 | c.828C>T (p.Tyr276=) n.742C>T c.59C>T c.363C>T (p.Tyr121=) | ClinVar dbSNP COSMIC COSMIC |
| 18 | g.23560284G>C | CA401781036 | NPC1 | c.828C>G (p.Tyr276Ter) n.742C>G c.59C>G c.363C>G (p.Tyr121Ter) | |
| 18 | g.23560284G>T | CA401781039 | NPC1 | c.828C>A (p.Tyr276Ter) n.742C>A c.59C>A c.363C>A (p.Tyr121Ter) | |
| 18 | g.23560285T>A | CA401781042 | NPC1 | c.827A>T (p.Tyr276Phe) n.741A>T c.58A>T c.362A>T (p.Tyr121Phe) | |
| 18 | g.23560285T>C | CA401781044 | NPC1 | c.827A>G (p.Tyr276Cys) n.741A>G c.58A>G c.362A>G (p.Tyr121Cys) | |
| 18 | g.23560285T>G | CA401781045 | NPC1 | c.827A>C (p.Tyr276Ser) n.741A>C c.58A>C c.362A>C (p.Tyr121Ser) | |
| 18 | g.23560286A>C | CA401781046 | NPC1 | c.826T>G (p.Tyr276Asp) n.740T>G c.57T>G c.361T>G (p.Tyr121Asp) | |
| 18 | g.23560286A>G | CA401781047 | NPC1 | c.826T>C (p.Tyr276His) n.740T>C c.57T>C c.361T>C (p.Tyr121His) | |
| 18 | g.23560286A>T | CA401781048 | NPC1 | c.826T>A (p.Tyr276Asn) n.740T>A c.57T>A c.361T>A (p.Tyr121Asn) | |
| 18 | g.23560286_23560287delinsAG | CA2290175683 | NPC1 | c.825_826delinsCT (p.Thr275=) n.739_740delinsCT c.56_57delinsCT c.360_361delinsCT (p.Thr120=) | |
| 18 | g.23560287G>A | CA503522061 | NPC1 | c.825C>T (p.Thr275=) n.739C>T c.56C>T c.360C>T (p.Thr120=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23560287G>C | CA503522062 | NPC1 | c.825C>G (p.Thr275=) n.739C>G c.56C>G c.360C>G (p.Thr120=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23560287G= | CA2290175684 | NPC1 | c.825C= (p.Thr275=) n.739C= c.56C= c.360C= (p.Thr120=) | |
| 18 | g.23560287G>T | CA503522063 | NPC1 | c.825C>A (p.Thr275=) n.739C>A c.56C>A c.360C>A (p.Thr120=) | |
| 18 | g.23560288del | CA8913634 | NPC1 | c.825del (p.Tyr276ThrfsTer?) n.739del c.56del c.360del (p.Tyr121ThrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23560288G>A | CA401781049 | NPC1 | c.824C>T (p.Thr275Ile) n.738C>T c.55C>T c.359C>T (p.Thr120Ile) |