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 |
|---|---|---|---|---|---|
| 4 | g.118815511G>A | CA199238 | SEC24D | c.613C>T (p.Gln205Ter) c.-720C>T (n.-720C>T) c.720C>T (p.Pro240=) c.464C>T (p.Pro155Leu) c.*587C>T (n.*587C>T) | ClinVar dbSNP |
| 4 | g.118815511G>C | CA358015479 | SEC24D | c.613C>G (p.Gln205Glu) c.-720C>G (n.-720C>G) c.720C>G (p.Pro240=) c.464C>G (p.Pro155Arg) c.*587C>G (n.*587C>G) | |
| 4 | g.118815511G= | CA1488655419 | SEC24D | c.613C= (p.Gln205=) c.-720C= (n.-720C=) c.720C= (p.Pro240=) c.464C= (p.Pro155=) c.*587C= (n.*587C=) | |
| 4 | g.118815511G>T | CA358015478 | SEC24D | c.613C>A (p.Gln205Lys) c.-720C>A (n.-720C>A) c.720C>A (p.Pro240=) c.464C>A (p.Pro155Gln) c.*587C>A (n.*587C>A) | |
| 4 | g.118815512G>A | CA3057501 | SEC24D | c.612C>T (p.Ala204=) c.-721C>T (n.-721C>T) c.719C>T (p.Pro240Leu) c.463C>T (p.Pro155Ser) c.*586C>T (n.*586C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.118815512G>C | CA441111075 | SEC24D | c.612C>G (p.Ala204=) c.-721C>G (n.-721C>G) c.719C>G (p.Pro240Arg) c.463C>G (p.Pro155Ala) c.*586C>G (n.*586C>G) | |
| 4 | g.118815512G= | CA1488655420 | SEC24D | c.612C= (p.Ala204=) c.-721C= (n.-721C=) c.719C= (p.Pro240=) c.463C= (p.Pro155=) c.*586C= (n.*586C=) | |
| 4 | g.118815512G>T | CA441111076 | SEC24D | c.612C>A (p.Ala204=) c.-721C>A (n.-721C>A) c.719C>A (p.Pro240His) c.463C>A (p.Pro155Thr) c.*586C>A (n.*586C>A) | |
| 4 | g.118815513G>A | CA358015480 | SEC24D | c.611C>T (p.Ala204Val) c.-722C>T (n.-722C>T) c.718C>T (p.Pro240Ser) c.462C>T (p.Cys154=) c.*585C>T (n.*585C>T) | |
| 4 | g.118815513G>C | CA358015481 | SEC24D | c.611C>G (p.Ala204Gly) c.-722C>G (n.-722C>G) c.718C>G (p.Pro240Ala) c.462C>G (p.Cys154Trp) c.*585C>G (n.*585C>G) | |
| 4 | g.118815513G= | CA1488655421 | SEC24D | c.611C= (p.Ala204=) c.-722C= (n.-722C=) c.718C= (p.Pro240=) c.462C= (p.Cys154=) c.*585C= (n.*585C=) | |
| 4 | g.118815513G>T | CA3057502 | SEC24D | c.611C>A (p.Ala204Asp) c.-722C>A (n.-722C>A) c.718C>A (p.Pro240Thr) c.462C>A (p.Cys154Ter) c.*585C>A (n.*585C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.118815514C>A | CA358015482 | SEC24D | c.610G>T (p.Ala204Ser) c.-723G>T (n.-723G>T) c.717G>T (p.Met239Ile) c.461G>T (p.Cys154Phe) c.*584G>T (n.*584G>T) | |
| 4 | g.118815514C>G | CA358015483 | SEC24D | c.610G>C (p.Ala204Pro) c.-723G>C (n.-723G>C) c.717G>C (p.Met239Ile) c.461G>C (p.Cys154Ser) c.*584G>C (n.*584G>C) | |
| 4 | g.118815514C>T | CA358015484 | SEC24D | c.610G>A (p.Ala204Thr) c.-723G>A (n.-723G>A) c.717G>A (p.Met239Ile) c.461G>A (p.Cys154Tyr) c.*584G>A (n.*584G>A) | |
| 4 | g.118815515A>C | CA358015485 | SEC24D | c.609T>G (p.Asn203Lys) c.-724T>G (n.-724T>G) c.716T>G (p.Met239Arg) c.460T>G (p.Cys154Gly) c.*583T>G (n.*583T>G) | |
| 4 | g.118815515A>G | CA441111082 | SEC24D | c.609T>C (p.Asn203=) c.-724T>C (n.-724T>C) c.716T>C (p.Met239Thr) c.460T>C (p.Cys154Arg) c.*583T>C (n.*583T>C) | |
| 4 | g.118815515A>T | CA358015486 | SEC24D | c.609T>A (p.Asn203Lys) c.-724T>A (n.-724T>A) c.716T>A (p.Met239Lys) c.460T>A (p.Cys154Ser) c.*583T>A (n.*583T>A) | |
| 4 | g.118815516T>A | CA358015487 | SEC24D | c.608A>T (p.Asn203Ile) c.-725A>T (n.-725A>T) c.715A>T (p.Met239Leu) c.459A>T (p.Lys153Asn) c.*582A>T (n.*582A>T) | |
| 4 | g.118815516T>C | CA358015488 | SEC24D | c.608A>G (p.Asn203Ser) c.-725A>G (n.-725A>G) c.715A>G (p.Met239Val) c.459A>G (p.Lys153=) c.*582A>G (n.*582A>G) | gnomAD v4 |
| 4 | g.118815516T>G | CA358015489 | SEC24D | c.608A>C (p.Asn203Thr) c.-725A>C (n.-725A>C) c.715A>C (p.Met239Leu) c.459A>C (p.Lys153Asn) c.*582A>C (n.*582A>C) | |
| 4 | g.118815517T>A | CA358015490 | SEC24D | c.607A>T (p.Asn203Tyr) c.-726A>T (n.-726A>T) c.714A>T (p.Gln238His) c.458A>T (p.Lys153Ile) c.*581A>T (n.*581A>T) | |
| 4 | g.118815517T>C | CA358015492 | SEC24D | c.607A>G (p.Asn203Asp) c.-726A>G (n.-726A>G) c.714A>G (p.Gln238=) c.458A>G (p.Lys153Arg) c.*581A>G (n.*581A>G) | dbSNP |
| 4 | g.118815517T>G | CA358015491 | SEC24D | c.607A>C (p.Asn203His) c.-726A>C (n.-726A>C) c.714A>C (p.Gln238His) c.458A>C (p.Lys153Thr) c.*581A>C (n.*581A>C) | |
| 4 | g.118815517T= | CA1488655422 | SEC24D | c.607A= (p.Asn203=) c.-726A= (n.-726A=) c.714A= (p.Gln238=) c.458A= (p.Lys153=) c.*581A= (n.*581A=) | |
| 4 | g.118815518T>A | CA441111088 | SEC24D | c.606A>T (p.Pro202=) c.-727A>T (n.-727A>T) c.713A>T (p.Gln238Leu) c.457A>T (p.Lys153Ter) c.*580A>T (n.*580A>T) | |
| 4 | g.118815518T>C | CA441111089 | SEC24D | c.606A>G (p.Pro202=) c.-727A>G (n.-727A>G) c.713A>G (p.Gln238Arg) c.457A>G (p.Lys153Glu) c.*580A>G (n.*580A>G) | |
| 4 | g.118815518T>G | CA441111090 | SEC24D | c.606A>C (p.Pro202=) c.-727A>C (n.-727A>C) c.713A>C (p.Gln238Pro) c.457A>C (p.Lys153Gln) c.*580A>C (n.*580A>C) | |
| 4 | g.118815518_118815521delinsTGGA | CA1488655423 | SEC24D | c.603_606delinsTCCA (p.Pro201=) c.-730_-727delinsTCCA (n.-730_-727delinsTCCA) c.710_713delinsTCCA (p.Leu237=) c.454_457delinsTCCA (p.Ser152=) c.*577_*580delinsTCCA (n.*577_*580delinsTCCA) | |
| 4 | g.118815519G>A | CA358015493 | SEC24D | c.605C>T (p.Pro202Leu) c.-728C>T (n.-728C>T) c.712C>T (p.Gln238Ter) c.456C>T (p.Ser152=) c.*579C>T (n.*579C>T) | |
| 4 | g.118815519G>C | CA358015494 | SEC24D | c.605C>G (p.Pro202Arg) c.-728C>G (n.-728C>G) c.712C>G (p.Gln238Glu) c.456C>G (p.Ser152=) c.*579C>G (n.*579C>G) | |
| 4 | g.118815519G>T | CA358015495 | SEC24D | c.605C>A (p.Pro202Gln) c.-728C>A (n.-728C>A) c.712C>A (p.Gln238Lys) c.456C>A (p.Ser152=) c.*579C>A (n.*579C>A) | |
| 4 | g.118815527_118815529del | CA1488655424 | SEC24D | c.603_605del (p.Pro202del) c.-730_-728del (n.-730_-728del) c.710_712del (p.Leu237del) c.454_456del (p.Ser152del) c.*577_*579del (n.*577_*579del) | dbSNP gnomAD v4 |
| 4 | g.118815520G>A | CA358015496 | SEC24D | c.604C>T (p.Pro202Ser) c.-729C>T (n.-729C>T) c.711C>T (p.Leu237=) c.455C>T (p.Ser152Phe) c.*578C>T (n.*578C>T) | |
| 4 | g.118815520G>C | CA358015497 | SEC24D | c.604C>G (p.Pro202Ala) c.-729C>G (n.-729C>G) c.711C>G (p.Leu237=) c.455C>G (p.Ser152Cys) c.*578C>G (n.*578C>G) | |
| 4 | g.118815520G>T | CA358015498 | SEC24D | c.604C>A (p.Pro202Thr) c.-729C>A (n.-729C>A) c.711C>A (p.Leu237=) c.455C>A (p.Ser152Tyr) c.*578C>A (n.*578C>A) | |
| 4 | g.118815521A= | CA1488655425 | SEC24D | c.603T= (p.Pro201=) c.-730T= (n.-730T=) c.710T= (p.Leu237=) c.454T= (p.Ser152=) c.*577T= (n.*577T=) | |
| 4 | g.118815521A>C | CA441111093 | SEC24D | c.603T>G (p.Pro201=) c.-730T>G (n.-730T>G) c.710T>G (p.Leu237Arg) c.454T>G (p.Ser152Ala) c.*577T>G (n.*577T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.118815521A>G | CA441111094 | SEC24D | c.603T>C (p.Pro201=) c.-730T>C (n.-730T>C) c.710T>C (p.Leu237Pro) c.454T>C (p.Ser152Pro) c.*577T>C (n.*577T>C) | dbSNP gnomAD v4 |
| 4 | g.118815521A>T | CA3057503 | SEC24D | c.603T>A (p.Pro201=) c.-730T>A (n.-730T>A) c.710T>A (p.Leu237His) c.454T>A (p.Ser152Thr) c.*577T>A (n.*577T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.118815522G>A | CA3057504 | SEC24D | c.602C>T (p.Pro201Leu) c.-731C>T (n.-731C>T) c.709C>T (p.Leu237Phe) c.453C>T (p.Ser151=) c.*576C>T (n.*576C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.118815522G>C | CA358015499 | SEC24D | c.602C>G (p.Pro201Arg) c.-731C>G (n.-731C>G) c.709C>G (p.Leu237Val) c.453C>G (p.Ser151=) c.*576C>G (n.*576C>G) | |
| 4 | g.118815522G= | CA1488655426 | SEC24D | c.602C= (p.Pro201=) c.-731C= (n.-731C=) c.709C= (p.Leu237=) c.453C= (p.Ser151=) c.*576C= (n.*576C=) | |
| 4 | g.118815522G>T | CA358015500 | SEC24D | c.602C>A (p.Pro201His) c.-731C>A (n.-731C>A) c.709C>A (p.Leu237Ile) c.453C>A (p.Ser151=) c.*576C>A (n.*576C>A) | |
| 4 | g.118815523G>A | CA358015501 | SEC24D | c.601C>T (p.Pro201Ser) c.-732C>T (n.-732C>T) c.708C>T (p.Leu236=) c.452C>T (p.Ser151Phe) c.*575C>T (n.*575C>T) | gnomAD v4 COSMIC |
| 4 | g.118815523G>C | CA3057506 | SEC24D | c.601C>G (p.Pro201Ala) c.-732C>G (n.-732C>G) c.708C>G (p.Leu236=) c.452C>G (p.Ser151Cys) c.*575C>G (n.*575C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.118815523G= | CA1488655427 | SEC24D | c.601C= (p.Pro201=) c.-732C= (n.-732C=) c.708C= (p.Leu236=) c.452C= (p.Ser151=) c.*575C= (n.*575C=) | |
| 4 | g.118815523G>T | CA3057505 | SEC24D | c.601C>A (p.Pro201Thr) c.-732C>A (n.-732C>A) c.708C>A (p.Leu236=) c.452C>A (p.Ser151Tyr) c.*575C>A (n.*575C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.118815524A>C | CA441111098 | SEC24D | c.600T>G (p.Pro200=) c.-733T>G (n.-733T>G) c.707T>G (p.Leu236Arg) c.451T>G (p.Ser151Ala) c.*574T>G (n.*574T>G) | |
| 4 | g.118815524A>G | CA441111099 | SEC24D | c.600T>C (p.Pro200=) c.-733T>C (n.-733T>C) c.707T>C (p.Leu236Pro) c.451T>C (p.Ser151Pro) c.*574T>C (n.*574T>C) |