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 |
|---|---|---|---|---|---|
| 11 | g.77156675C>A | CA475886861 | MYO7A | c.486C>A (p.Ala162=) c.453C>A (p.Ala151=) c.228C>A (p.Ala76=) n.806C>A n.808C>A c.576C>A (p.Ala192=) n.591C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.77156675C= | CA1984095156 | MYO7A | c.486C= (p.Ala162=) c.453C= (p.Ala151=) c.228C= (p.Ala76=) n.806C= n.808C= c.576C= (p.Ala192=) n.591C= | |
| 11 | g.77156675C>G | CA475886863 | MYO7A | c.486C>G (p.Ala162=) c.453C>G (p.Ala151=) c.228C>G (p.Ala76=) n.806C>G n.808C>G c.576C>G (p.Ala192=) n.591C>G | |
| 11 | g.77156675C>T | CA6197157 | MYO7A | c.486C>T (p.Ala162=) c.453C>T (p.Ala151=) c.228C>T (p.Ala76=) n.806C>T n.808C>T c.576C>T (p.Ala192=) n.591C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77156675_77156842delinsAG | CA2573147717 | MYO7A | c.486_593-20delinsAG c.453_560-20delinsAG c.228_335-20delinsAG n.806_913-20delinsAG n.808_915-20delinsAG c.576_683-20delinsAG n.591_698-20delinsAG | ClinVar dbSNP |
| 11 | g.77156676G>A | CA381931767 | MYO7A | c.487G>A (p.Gly163Arg) c.454G>A (p.Gly152Arg) c.229G>A (p.Gly77Arg) n.807G>A n.809G>A c.577G>A (p.Gly193Arg) n.592G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77156676G>C | CA381931768 | MYO7A | c.487G>C (p.Gly163Arg) c.454G>C (p.Gly152Arg) c.229G>C (p.Gly77Arg) n.807G>C n.809G>C c.577G>C (p.Gly193Arg) n.592G>C | |
| 11 | g.77156676G= | CA1984095165 | MYO7A | c.487G= (p.Gly163=) c.454G= (p.Gly152=) c.229G= (p.Gly77=) n.807G= n.809G= c.577G= (p.Gly193=) n.592G= | |
| 11 | g.77156676G>T | CA381931769 | MYO7A | c.487G>T (p.Gly163Trp) c.454G>T (p.Gly152Trp) c.229G>T (p.Gly77Trp) n.807G>T n.809G>T c.577G>T (p.Gly193Trp) n.592G>T | |
| 11 | g.77156677G>A | CA381931772 | MYO7A | c.488G>A (p.Gly163Glu) c.455G>A (p.Gly152Glu) c.230G>A (p.Gly77Glu) n.808G>A n.810G>A c.578G>A (p.Gly193Glu) n.593G>A | COSMIC |
| 11 | g.77156677G>C | CA381931771 | MYO7A | c.488G>C (p.Gly163Ala) c.455G>C (p.Gly152Ala) c.230G>C (p.Gly77Ala) n.808G>C n.810G>C c.578G>C (p.Gly193Ala) n.593G>C | |
| 11 | g.77156677G>T | CA381931770 | MYO7A | c.488G>T (p.Gly163Val) c.455G>T (p.Gly152Val) c.230G>T (p.Gly77Val) n.808G>T n.810G>T c.578G>T (p.Gly193Val) n.593G>T | |
| 11 | g.77156678G>A | CA475886870 | MYO7A | c.489G>A (p.Gly163=) c.456G>A (p.Gly152=) c.231G>A (p.Gly77=) n.809G>A n.811G>A c.579G>A (p.Gly193=) n.594G>A | |
| 11 | g.77156678G>C | CA475886869 | MYO7A | c.489G>C (p.Gly163=) c.456G>C (p.Gly152=) c.231G>C (p.Gly77=) n.809G>C n.811G>C c.579G>C (p.Gly193=) n.594G>C | ClinVar |
| 11 | g.77156678G>T | CA475886867 | MYO7A | c.489G>T (p.Gly163=) c.456G>T (p.Gly152=) c.231G>T (p.Gly77=) n.809G>T n.811G>T c.579G>T (p.Gly193=) n.594G>T | gnomAD v4 |
| 11 | g.77156679A>C | CA381931773 | MYO7A | c.490A>C (p.Lys164Gln) c.457A>C (p.Lys153Gln) c.232A>C (p.Lys78Gln) n.810A>C n.812A>C c.580A>C (p.Lys194Gln) n.595A>C | |
| 11 | g.77156679A>G | CA381931774 | MYO7A | c.490A>G (p.Lys164Glu) c.457A>G (p.Lys153Glu) c.232A>G (p.Lys78Glu) n.810A>G n.812A>G c.580A>G (p.Lys194Glu) n.595A>G | |
| 11 | g.77156679A>T | CA381931775 | MYO7A | c.490A>T (p.Lys164Ter) c.457A>T (p.Lys153Ter) c.232A>T (p.Lys78Ter) n.810A>T n.812A>T c.580A>T (p.Lys194Ter) n.595A>T | |
| 11 | g.77156680A>C | CA381931776 | MYO7A | c.491A>C (p.Lys164Thr) c.458A>C (p.Lys153Thr) c.233A>C (p.Lys78Thr) n.811A>C n.813A>C c.581A>C (p.Lys194Thr) n.596A>C | |
| 11 | g.77156680A>G | CA381931777 | MYO7A | c.491A>G (p.Lys164Arg) c.458A>G (p.Lys153Arg) c.233A>G (p.Lys78Arg) n.811A>G n.813A>G c.581A>G (p.Lys194Arg) n.596A>G | |
| 11 | g.77156680A>T | CA381931778 | MYO7A | c.491A>T (p.Lys164Met) c.458A>T (p.Lys153Met) c.233A>T (p.Lys78Met) n.811A>T n.813A>T c.581A>T (p.Lys194Met) n.596A>T | |
| 11 | g.77156681G>A | CA475886880 | MYO7A | c.492G>A (p.Lys164=) c.459G>A (p.Lys153=) c.234G>A (p.Lys78=) n.812G>A n.814G>A c.582G>A (p.Lys194=) n.597G>A | |
| 11 | g.77156681G>C | CA381931780 | MYO7A | c.492G>C (p.Lys164Asn) c.459G>C (p.Lys153Asn) c.234G>C (p.Lys78Asn) n.812G>C n.814G>C c.582G>C (p.Lys194Asn) n.597G>C | ClinVar dbSNP |
| 11 | g.77156681G= | CA1984095176 | MYO7A | c.492G= (p.Lys164=) c.459G= (p.Lys153=) c.234G= (p.Lys78=) n.812G= n.814G= c.582G= (p.Lys194=) n.597G= | |
| 11 | g.77156681G>T | CA381931779 | MYO7A | c.492G>T (p.Lys164Asn) c.459G>T (p.Lys153Asn) c.234G>T (p.Lys78Asn) n.812G>T n.814G>T c.582G>T (p.Lys194Asn) n.597G>T | |
| 11 | g.77156682A>C | CA381931781 | MYO7A | c.493A>C (p.Thr165Pro) c.460A>C (p.Thr154Pro) c.235A>C (p.Thr79Pro) n.813A>C n.815A>C c.583A>C (p.Thr195Pro) n.598A>C | |
| 11 | g.77156682A>G | CA381931782 | MYO7A | c.493A>G (p.Thr165Ala) c.460A>G (p.Thr154Ala) c.235A>G (p.Thr79Ala) n.813A>G n.815A>G c.583A>G (p.Thr195Ala) n.598A>G | |
| 11 | g.77156682A>T | CA381931783 | MYO7A | c.493A>T (p.Thr165Ser) c.460A>T (p.Thr154Ser) c.235A>T (p.Thr79Ser) n.813A>T n.815A>T c.583A>T (p.Thr195Ser) n.598A>T | |
| 11 | g.77156683C>A | CA381931784 | MYO7A | c.494C>A (p.Thr165Lys) c.461C>A (p.Thr154Lys) c.236C>A (p.Thr79Lys) n.814C>A n.816C>A c.584C>A (p.Thr195Lys) n.599C>A | gnomAD v4 |
| 11 | g.77156683C= | CA1984095185 | MYO7A | c.494C= (p.Thr165=) c.461C= (p.Thr154=) c.236C= (p.Thr79=) n.814C= n.816C= c.584C= (p.Thr195=) n.599C= | |
| 11 | g.77156683C>G | CA381931785 | MYO7A | c.494C>G (p.Thr165Arg) c.461C>G (p.Thr154Arg) c.236C>G (p.Thr79Arg) n.814C>G n.816C>G c.584C>G (p.Thr195Arg) n.599C>G | |
| 11 | g.77156683C>T | CA278676 | MYO7A | c.494C>T (p.Thr165Met) c.461C>T (p.Thr154Met) c.236C>T (p.Thr79Met) n.814C>T n.816C>T c.584C>T (p.Thr195Met) n.599C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.77156683_77156684delinsCG | CA1984095184 | MYO7A | c.494_495delinsCG (p.Thr165=) c.461_462delinsCG (p.Thr154=) c.236_237delinsCG (p.Thr79=) n.814_815delinsCG n.816_817delinsCG c.584_585delinsCG (p.Thr195=) n.599_600delinsCG | |
| 11 | g.77156684G>A | CA6197158 | MYO7A | c.495G>A (p.Thr165=) c.462G>A (p.Thr154=) c.237G>A (p.Thr79=) n.815G>A n.817G>A c.585G>A (p.Thr195=) n.600G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77156684G>C | CA475886893 | MYO7A | c.495G>C (p.Thr165=) c.462G>C (p.Thr154=) c.237G>C (p.Thr79=) n.815G>C n.817G>C c.585G>C (p.Thr195=) n.600G>C | |
| 11 | g.77156684G= | CA1984095201 | MYO7A | c.495G= (p.Thr165=) c.462G= (p.Thr154=) c.237G= (p.Thr79=) n.815G= n.817G= c.585G= (p.Thr195=) n.600G= | |
| 11 | g.77156684G>T | CA475886891 | MYO7A | c.495G>T (p.Thr165=) c.462G>T (p.Thr154=) c.237G>T (p.Thr79=) n.815G>T n.817G>T c.585G>T (p.Thr195=) n.600G>T | |
| 11 | g.77156685del | CA278677 | MYO7A | c.496del (p.Glu166ArgfsTer5) c.463del (p.Glu155ArgfsTer5) c.238del (p.Glu80ArgfsTer5) n.816del n.818del c.586del (p.Glu196ArgfsTer5) n.601del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77156685G>A | CA381931786 | MYO7A | c.496G>A (p.Glu166Lys) c.463G>A (p.Glu155Lys) c.238G>A (p.Glu80Lys) n.816G>A n.818G>A c.586G>A (p.Glu196Lys) n.601G>A | |
| 11 | g.77156685G>C | CA381931787 | MYO7A | c.496G>C (p.Glu166Gln) c.463G>C (p.Glu155Gln) c.238G>C (p.Glu80Gln) n.816G>C n.818G>C c.586G>C (p.Glu196Gln) n.601G>C | |
| 11 | g.77156685G= | CA1984095216 | MYO7A | c.496G= (p.Glu166=) c.463G= (p.Glu155=) c.238G= (p.Glu80=) n.816G= n.818G= c.586G= (p.Glu196=) n.601G= | |
| 11 | g.77156685G>T | CA381931788 | MYO7A | c.496G>T (p.Glu166Ter) c.463G>T (p.Glu155Ter) c.238G>T (p.Glu80Ter) n.816G>T n.818G>T c.586G>T (p.Glu196Ter) n.601G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.77156686A>C | CA381931789 | MYO7A | c.497A>C (p.Glu166Ala) c.464A>C (p.Glu155Ala) c.239A>C (p.Glu80Ala) n.817A>C n.819A>C c.587A>C (p.Glu196Ala) n.602A>C | |
| 11 | g.77156686A>G | CA381931790 | MYO7A | c.497A>G (p.Glu166Gly) c.464A>G (p.Glu155Gly) c.239A>G (p.Glu80Gly) n.817A>G n.819A>G c.587A>G (p.Glu196Gly) n.602A>G | |
| 11 | g.77156686A>T | CA381931791 | MYO7A | c.497A>T (p.Glu166Val) c.464A>T (p.Glu155Val) c.239A>T (p.Glu80Val) n.817A>T n.819A>T c.587A>T (p.Glu196Val) n.602A>T | |
| 11 | g.77156687G>A | CA475886901 | MYO7A | c.498G>A (p.Glu166=) c.465G>A (p.Glu155=) c.240G>A (p.Glu80=) n.818G>A n.820G>A c.588G>A (p.Glu196=) n.603G>A | ClinVar dbSNP |
| 11 | g.77156687G>C | CA381931792 | MYO7A | c.498G>C (p.Glu166Asp) c.465G>C (p.Glu155Asp) c.240G>C (p.Glu80Asp) n.818G>C n.820G>C c.588G>C (p.Glu196Asp) n.603G>C | |
| 11 | g.77156687G>T | CA381931793 | MYO7A | c.498G>T (p.Glu166Asp) c.465G>T (p.Glu155Asp) c.240G>T (p.Glu80Asp) n.818G>T n.820G>T c.588G>T (p.Glu196Asp) n.603G>T | |
| 11 | g.77156688A>C | CA381931794 | MYO7A | c.499A>C (p.Ser167Arg) c.466A>C (p.Ser156Arg) c.241A>C (p.Ser81Arg) n.819A>C n.821A>C c.589A>C (p.Ser197Arg) n.604A>C | |
| 11 | g.77156688A>G | CA381931795 | MYO7A | c.499A>G (p.Ser167Gly) c.466A>G (p.Ser156Gly) c.241A>G (p.Ser81Gly) n.819A>G n.821A>G c.589A>G (p.Ser197Gly) n.604A>G |