WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.133753727A= | CA2459503275 | GPC3 | c.*375T= (n.*375T=) c.739T= (p.Ser247=) c.787T= (p.Ser263=) c.625T= (p.Ser209=) | |
| X | g.133753727A>C | CA414705842 | GPC3 | c.*375T>G (n.*375T>G) c.739T>G (p.Ser247Ala) c.787T>G (p.Ser263Ala) c.625T>G (p.Ser209Ala) | |
| X | g.133753727A>G | CA414705844 | GPC3 | c.*375T>C (n.*375T>C) c.739T>C (p.Ser247Pro) c.787T>C (p.Ser263Pro) c.625T>C (p.Ser209Pro) | |
| X | g.133753727A>T | CA414705840 | GPC3 | c.*375T>A (n.*375T>A) c.739T>A (p.Ser247Thr) c.787T>A (p.Ser263Thr) c.625T>A (p.Ser209Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.133753728G>A | CA518852822 | GPC3 | c.*374C>T (n.*374C>T) c.738C>T (p.Cys246=) c.786C>T (p.Cys262=) c.624C>T (p.Cys208=) | ClinVar gnomAD v4 |
| X | g.133753728G>C | CA414705846 | GPC3 | c.*374C>G (n.*374C>G) c.738C>G (p.Cys246Trp) c.786C>G (p.Cys262Trp) c.624C>G (p.Cys208Trp) | |
| X | g.133753728G>T | CA414705847 | GPC3 | c.*374C>A (n.*374C>A) c.738C>A (p.Cys246Ter) c.786C>A (p.Cys262Ter) c.624C>A (p.Cys208Ter) | |
| X | g.133753729C>A | CA414705851 | GPC3 | c.*373G>T (n.*373G>T) c.737G>T (p.Cys246Phe) c.785G>T (p.Cys262Phe) c.623G>T (p.Cys208Phe) | |
| X | g.133753729C= | CA2459503276 | GPC3 | c.*373G= (n.*373G=) c.737G= (p.Cys246=) c.785G= (p.Cys262=) c.623G= (p.Cys208=) | |
| X | g.133753729C>G | CA414705853 | GPC3 | c.*373G>C (n.*373G>C) c.737G>C (p.Cys246Ser) c.785G>C (p.Cys262Ser) c.623G>C (p.Cys208Ser) | |
| X | g.133753729C>T | CA414705854 | GPC3 | c.*373G>A (n.*373G>A) c.737G>A (p.Cys246Tyr) c.785G>A (p.Cys262Tyr) c.623G>A (p.Cys208Tyr) | ClinVar dbSNP |
| X | g.133753729_133753734delinsGCT | CA2695236001 | GPC3 | c.*368_*373delinsAGC (n.*368_*373delinsAGC) c.732_737delinsAGC (p.Trp244Ter) c.780_785delinsAGC (p.Trp260Ter) c.618_623delinsAGC (p.Trp206Ter) | |
| X | g.133753730A>C | CA414705855 | GPC3 | c.*372T>G (n.*372T>G) c.736T>G (p.Cys246Gly) c.784T>G (p.Cys262Gly) c.622T>G (p.Cys208Gly) | |
| X | g.133753730A>G | CA414705857 | GPC3 | c.*372T>C (n.*372T>C) c.736T>C (p.Cys246Arg) c.784T>C (p.Cys262Arg) c.622T>C (p.Cys208Arg) | |
| X | g.133753730A>T | CA414705858 | GPC3 | c.*372T>A (n.*372T>A) c.736T>A (p.Cys246Ser) c.784T>A (p.Cys262Ser) c.622T>A (p.Cys208Ser) | |
| X | g.133753731G>A | CA518852826 | GPC3 | c.*371C>T (n.*371C>T) c.735C>T (p.Tyr245=) c.783C>T (p.Tyr261=) c.621C>T (p.Tyr207=) | |
| X | g.133753731G>C | CA414705860 | GPC3 | c.*371C>G (n.*371C>G) c.735C>G (p.Tyr245Ter) c.783C>G (p.Tyr261Ter) c.621C>G (p.Tyr207Ter) | |
| X | g.133753731G>T | CA414705861 | GPC3 | c.*371C>A (n.*371C>A) c.735C>A (p.Tyr245Ter) c.783C>A (p.Tyr261Ter) c.621C>A (p.Tyr207Ter) | |
| X | g.133753732T>A | CA414705862 | GPC3 | c.*370A>T (n.*370A>T) c.734A>T (p.Tyr245Phe) c.782A>T (p.Tyr261Phe) c.620A>T (p.Tyr207Phe) | |
| X | g.133753732T>C | CA414705863 | GPC3 | c.*370A>G (n.*370A>G) c.734A>G (p.Tyr245Cys) c.782A>G (p.Tyr261Cys) c.620A>G (p.Tyr207Cys) | |
| X | g.133753732T>G | CA414705864 | GPC3 | c.*370A>C (n.*370A>C) c.734A>C (p.Tyr245Ser) c.782A>C (p.Tyr261Ser) c.620A>C (p.Tyr207Ser) | |
| X | g.133753733A>C | CA414705867 | GPC3 | c.*369T>G (n.*369T>G) c.733T>G (p.Tyr245Asp) c.781T>G (p.Tyr261Asp) c.619T>G (p.Tyr207Asp) | |
| X | g.133753733A>G | CA414705866 | GPC3 | c.*369T>C (n.*369T>C) c.733T>C (p.Tyr245His) c.781T>C (p.Tyr261His) c.619T>C (p.Tyr207His) | |
| X | g.133753733A>T | CA414705865 | GPC3 | c.*369T>A (n.*369T>A) c.733T>A (p.Tyr245Asn) c.781T>A (p.Tyr261Asn) c.619T>A (p.Tyr207Asn) | |
| X | g.133753734C>A | CA414705868 | GPC3 | c.*368G>T (n.*368G>T) c.732G>T (p.Trp244Cys) c.780G>T (p.Trp260Cys) c.618G>T (p.Trp206Cys) | |
| X | g.133753734C>G | CA414705869 | GPC3 | c.*368G>C (n.*368G>C) c.732G>C (p.Trp244Cys) c.780G>C (p.Trp260Cys) c.618G>C (p.Trp206Cys) | |
| X | g.133753734C>T | CA414705870 | GPC3 | c.*368G>A (n.*368G>A) c.732G>A (p.Trp244Ter) c.780G>A (p.Trp260Ter) c.618G>A (p.Trp206Ter) | |
| X | g.133753735C>A | CA414705871 | GPC3 | c.*367G>T (n.*367G>T) c.731G>T (p.Trp244Leu) c.779G>T (p.Trp260Leu) c.617G>T (p.Trp206Leu) | |
| X | g.133753735C>G | CA414705872 | GPC3 | c.*367G>C (n.*367G>C) c.731G>C (p.Trp244Ser) c.779G>C (p.Trp260Ser) c.617G>C (p.Trp206Ser) | ClinVar COSMIC |
| X | g.133753735C>T | CA414705873 | GPC3 | c.*367G>A (n.*367G>A) c.731G>A (p.Trp244Ter) c.779G>A (p.Trp260Ter) c.617G>A (p.Trp206Ter) | |
| X | g.133753736A>C | CA414705874 | GPC3 | c.*366T>G (n.*366T>G) c.730T>G (p.Trp244Gly) c.778T>G (p.Trp260Gly) c.616T>G (p.Trp206Gly) | |
| X | g.133753736A>G | CA414705875 | GPC3 | c.*366T>C (n.*366T>C) c.730T>C (p.Trp244Arg) c.778T>C (p.Trp260Arg) c.616T>C (p.Trp206Arg) | |
| X | g.133753736A>T | CA414705876 | GPC3 | c.*366T>A (n.*366T>A) c.730T>A (p.Trp244Arg) c.778T>A (p.Trp260Arg) c.616T>A (p.Trp206Arg) | |
| X | g.133753737C>A | CA414705877 | GPC3 | c.*365G>T (n.*365G>T) c.729G>T (p.Met243Ile) c.777G>T (p.Met259Ile) c.615G>T (p.Met205Ile) | |
| X | g.133753737C= | CA2459503277 | GPC3 | c.*365G= (n.*365G=) c.729G= (p.Met243=) c.777G= (p.Met259=) c.615G= (p.Met205=) | |
| X | g.133753737C>G | CA414705878 | GPC3 | c.*365G>C (n.*365G>C) c.729G>C (p.Met243Ile) c.777G>C (p.Met259Ile) c.615G>C (p.Met205Ile) | |
| X | g.133753737C>T | CA10520797 | GPC3 | c.*365G>A (n.*365G>A) c.729G>A (p.Met243Ile) c.777G>A (p.Met259Ile) c.615G>A (p.Met205Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.133753738A>C | CA414705880 | GPC3 | c.*364T>G (n.*364T>G) c.728T>G (p.Met243Arg) c.776T>G (p.Met259Arg) c.614T>G (p.Met205Arg) | |
| X | g.133753738A>G | CA414705881 | GPC3 | c.*364T>C (n.*364T>C) c.728T>C (p.Met243Thr) c.776T>C (p.Met259Thr) c.614T>C (p.Met205Thr) | |
| X | g.133753738A>T | CA414705879 | GPC3 | c.*364T>A (n.*364T>A) c.728T>A (p.Met243Lys) c.776T>A (p.Met259Lys) c.614T>A (p.Met205Lys) | |
| X | g.133753739T>A | CA414705882 | GPC3 | c.*363A>T (n.*363A>T) c.727A>T (p.Met243Leu) c.775A>T (p.Met259Leu) c.613A>T (p.Met205Leu) | |
| X | g.133753739T>C | CA414705883 | GPC3 | c.*363A>G (n.*363A>G) c.727A>G (p.Met243Val) c.775A>G (p.Met259Val) c.613A>G (p.Met205Val) | |
| X | g.133753739T>G | CA414705884 | GPC3 | c.*363A>C (n.*363A>C) c.727A>C (p.Met243Leu) c.775A>C (p.Met259Leu) c.613A>C (p.Met205Leu) | |
| X | g.133753740T>A | CA414705885 | GPC3 | c.*362A>T (n.*362A>T) c.726A>T (p.Arg242Ser) c.774A>T (p.Arg258Ser) c.612A>T (p.Arg204Ser) | |
| X | g.133753740T>C | CA518852840 | GPC3 | c.*362A>G (n.*362A>G) c.726A>G (p.Arg242=) c.774A>G (p.Arg258=) c.612A>G (p.Arg204=) | |
| X | g.133753740T>G | CA414705886 | GPC3 | c.*362A>C (n.*362A>C) c.726A>C (p.Arg242Ser) c.774A>C (p.Arg258Ser) c.612A>C (p.Arg204Ser) | |
| X | g.133753741C>A | CA414705887 | GPC3 | c.*361G>T (n.*361G>T) c.725G>T (p.Arg242Ile) c.773G>T (p.Arg258Ile) c.611G>T (p.Arg204Ile) | |
| X | g.133753741C>G | CA414705888 | GPC3 | c.*361G>C (n.*361G>C) c.725G>C (p.Arg242Thr) c.773G>C (p.Arg258Thr) c.611G>C (p.Arg204Thr) | |
| X | g.133753741C>T | CA414705889 | GPC3 | c.*361G>A (n.*361G>A) c.725G>A (p.Arg242Lys) c.773G>A (p.Arg258Lys) c.611G>A (p.Arg204Lys) | ClinVar |
| X | g.133753742T>A | CA414705890 | GPC3 | c.*360A>T (n.*360A>T) c.724A>T (p.Arg242Ter) c.772A>T (p.Arg258Ter) c.610A>T (p.Arg204Ter) |