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 |
|---|---|---|---|---|---|
| 6 | g.36685761C>A | CA363834765 | CDKN1A | c.456C>A (p.His152Gln) c.558C>A (p.His186Gln) c.495C>A (p.His165Gln) c.555C>A (p.His185Gln) c.*251C>A (n.*251C>A) | |
| 6 | g.36685761C>G | CA363834766 | CDKN1A | c.456C>G (p.His152Gln) c.558C>G (p.His186Gln) c.495C>G (p.His165Gln) c.555C>G (p.His185Gln) c.*251C>G (n.*251C>G) | |
| 6 | g.36685761C>T | CA449976451 | CDKN1A | c.456C>T (p.His152=) c.558C>T (p.His186=) c.495C>T (p.His165=) c.555C>T (p.His185=) c.*251C>T (n.*251C>T) | gnomAD v4 |
| 6 | g.36685762T>A | CA363834767 | CDKN1A | c.457T>A (p.Ser153Thr) c.559T>A (p.Ser187Thr) c.496T>A (p.Ser166Thr) c.556T>A (p.Ser186Thr) c.*252T>A (n.*252T>A) | |
| 6 | g.36685762T>C | CA363834768 | CDKN1A | c.457T>C (p.Ser153Pro) c.559T>C (p.Ser187Pro) c.496T>C (p.Ser166Pro) c.556T>C (p.Ser186Pro) c.*252T>C (n.*252T>C) | |
| 6 | g.36685762T>G | CA363834769 | CDKN1A | c.457T>G (p.Ser153Ala) c.559T>G (p.Ser187Ala) c.496T>G (p.Ser166Ala) c.556T>G (p.Ser186Ala) c.*252T>G (n.*252T>G) | |
| 6 | g.36685763C>A | CA363834770 | CDKN1A | c.458C>A (p.Ser153Tyr) c.560C>A (p.Ser187Tyr) c.497C>A (p.Ser166Tyr) c.557C>A (p.Ser186Tyr) c.*253C>A (n.*253C>A) | dbSNP gnomAD v4 |
| 6 | g.36685763C>G | CA363834771 | CDKN1A | c.458C>G (p.Ser153Cys) c.560C>G (p.Ser187Cys) c.497C>G (p.Ser166Cys) c.557C>G (p.Ser186Cys) c.*253C>G (n.*253C>G) | gnomAD v4 |
| 6 | g.36685763C>T | CA363834772 | CDKN1A | c.458C>T (p.Ser153Phe) c.560C>T (p.Ser187Phe) c.497C>T (p.Ser166Phe) c.557C>T (p.Ser186Phe) c.*253C>T (n.*253C>T) | |
| 6 | g.36685764C>A | CA449976457 | CDKN1A | c.459C>A (p.Ser153=) c.561C>A (p.Ser187=) c.498C>A (p.Ser166=) c.558C>A (p.Ser186=) c.*254C>A (n.*254C>A) | |
| 6 | g.36685764C= | CA1621457563 | CDKN1A | c.459C= (p.Ser153=) c.561C= (p.Ser187=) c.498C= (p.Ser166=) c.558C= (p.Ser186=) c.*254C= (n.*254C=) | |
| 6 | g.36685764C>G | CA449976459 | CDKN1A | c.459C>G (p.Ser153=) c.561C>G (p.Ser187=) c.498C>G (p.Ser166=) c.558C>G (p.Ser186=) c.*254C>G (n.*254C>G) | |
| 6 | g.36685764C>T | CA3780436 | CDKN1A | c.459C>T (p.Ser153=) c.561C>T (p.Ser187=) c.498C>T (p.Ser166=) c.558C>T (p.Ser186=) c.*254C>T (n.*254C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685765A>C | CA363834773 | CDKN1A | c.460A>C (p.Lys154Gln) c.562A>C (p.Lys188Gln) c.499A>C (p.Lys167Gln) c.559A>C (p.Lys187Gln) c.*255A>C (n.*255A>C) | |
| 6 | g.36685765A>G | CA363834774 | CDKN1A | c.460A>G (p.Lys154Glu) c.562A>G (p.Lys188Glu) c.499A>G (p.Lys167Glu) c.559A>G (p.Lys187Glu) c.*255A>G (n.*255A>G) | |
| 6 | g.36685765A>T | CA363834775 | CDKN1A | c.460A>T (p.Lys154Ter) c.562A>T (p.Lys188Ter) c.499A>T (p.Lys167Ter) c.559A>T (p.Lys187Ter) c.*255A>T (n.*255A>T) | |
| 6 | g.36685766A>C | CA363834776 | CDKN1A | c.461A>C (p.Lys154Thr) c.563A>C (p.Lys188Thr) c.500A>C (p.Lys167Thr) c.560A>C (p.Lys187Thr) c.*256A>C (n.*256A>C) | dbSNP |
| 6 | g.36685766A>G | CA363834778 | CDKN1A | c.461A>G (p.Lys154Arg) c.563A>G (p.Lys188Arg) c.500A>G (p.Lys167Arg) c.560A>G (p.Lys187Arg) c.*256A>G (n.*256A>G) | gnomAD v4 |
| 6 | g.36685766A>T | CA363834777 | CDKN1A | c.461A>T (p.Lys154Ile) c.563A>T (p.Lys188Ile) c.500A>T (p.Lys167Ile) c.560A>T (p.Lys187Ile) c.*256A>T (n.*256A>T) | dbSNP |
| 6 | g.36685767A= | CA1621457564 | CDKN1A | c.462A= (p.Lys154=) c.564A= (p.Lys188=) c.501A= (p.Lys167=) c.561A= (p.Lys187=) c.*257A= (n.*257A=) | |
| 6 | g.36685767A>C | CA363834779 | CDKN1A | c.462A>C (p.Lys154Asn) c.564A>C (p.Lys188Asn) c.501A>C (p.Lys167Asn) c.561A>C (p.Lys187Asn) c.*257A>C (n.*257A>C) | |
| 6 | g.36685767A>G | CA3780437 | CDKN1A | c.462A>G (p.Lys154=) c.564A>G (p.Lys188=) c.501A>G (p.Lys167=) c.561A>G (p.Lys187=) c.*257A>G (n.*257A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36685767A>T | CA363834780 | CDKN1A | c.462A>T (p.Lys154Asn) c.564A>T (p.Lys188Asn) c.501A>T (p.Lys167Asn) c.561A>T (p.Lys187Asn) c.*257A>T (n.*257A>T) | |
| 6 | g.36685768C>A | CA363834781 | CDKN1A | c.463C>A (p.Arg155Ser) c.565C>A (p.Arg189Ser) c.502C>A (p.Arg168Ser) c.562C>A (p.Arg188Ser) c.*258C>A (n.*258C>A) | |
| 6 | g.36685768C= | CA1621457565 | CDKN1A | c.463C= (p.Arg155=) c.565C= (p.Arg189=) c.502C= (p.Arg168=) c.562C= (p.Arg188=) c.*258C= (n.*258C=) | |
| 6 | g.36685768C>G | CA363834782 | CDKN1A | c.463C>G (p.Arg155Gly) c.565C>G (p.Arg189Gly) c.502C>G (p.Arg168Gly) c.562C>G (p.Arg188Gly) c.*258C>G (n.*258C>G) | |
| 6 | g.36685768C>T | CA3780438 | CDKN1A | c.463C>T (p.Arg155Cys) c.565C>T (p.Arg189Cys) c.502C>T (p.Arg168Cys) c.562C>T (p.Arg188Cys) c.*258C>T (n.*258C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36685769G>A | CA363834783 | CDKN1A | c.464G>A (p.Arg155His) c.566G>A (p.Arg189His) c.503G>A (p.Arg168His) c.563G>A (p.Arg188His) c.*259G>A (n.*259G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.36685769G>C | CA363834784 | CDKN1A | c.464G>C (p.Arg155Pro) c.566G>C (p.Arg189Pro) c.503G>C (p.Arg168Pro) c.563G>C (p.Arg188Pro) c.*259G>C (n.*259G>C) | dbSNP |
| 6 | g.36685769G= | CA1621457566 | CDKN1A | c.464G= (p.Arg155=) c.566G= (p.Arg189=) c.503G= (p.Arg168=) c.563G= (p.Arg188=) c.*259G= (n.*259G=) | |
| 6 | g.36685769G>T | CA363834785 | CDKN1A | c.464G>T (p.Arg155Leu) c.566G>T (p.Arg189Leu) c.503G>T (p.Arg168Leu) c.563G>T (p.Arg188Leu) c.*259G>T (n.*259G>T) | |
| 6 | g.36685770C>A | CA449976471 | CDKN1A | c.465C>A (p.Arg155=) c.567C>A (p.Arg189=) c.504C>A (p.Arg168=) c.564C>A (p.Arg188=) c.*260C>A (n.*260C>A) | |
| 6 | g.36685770C= | CA1621457567 | CDKN1A | c.465C= (p.Arg155=) c.567C= (p.Arg189=) c.504C= (p.Arg168=) c.564C= (p.Arg188=) c.*260C= (n.*260C=) | |
| 6 | g.36685770C>G | CA449976473 | CDKN1A | c.465C>G (p.Arg155=) c.567C>G (p.Arg189=) c.504C>G (p.Arg168=) c.564C>G (p.Arg188=) c.*260C>G (n.*260C>G) | |
| 6 | g.36685770C>T | CA137424762 | CDKN1A | c.465C>T (p.Arg155=) c.567C>T (p.Arg189=) c.504C>T (p.Arg168=) c.564C>T (p.Arg188=) c.*260C>T (n.*260C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685771C>A | CA449976475 | CDKN1A | c.466C>A (p.Arg156=) c.568C>A (p.Arg190=) c.505C>A (p.Arg169=) c.565C>A (p.Arg189=) c.*261C>A (n.*261C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36685771C= | CA1621457568 | CDKN1A | c.466C= (p.Arg156=) c.568C= (p.Arg190=) c.505C= (p.Arg169=) c.565C= (p.Arg189=) c.*261C= (n.*261C=) | |
| 6 | g.36685771C>G | CA137424769 | CDKN1A | c.466C>G (p.Arg156Gly) c.568C>G (p.Arg190Gly) c.505C>G (p.Arg169Gly) c.565C>G (p.Arg189Gly) c.*261C>G (n.*261C>G) | dbSNP gnomAD v4 |
| 6 | g.36685771C>T | CA3780439 | CDKN1A | c.466C>T (p.Arg156Trp) c.568C>T (p.Arg190Trp) c.505C>T (p.Arg169Trp) c.565C>T (p.Arg189Trp) c.*261C>T (n.*261C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.36685772G>A | CA3780440 | CDKN1A | c.467G>A (p.Arg156Gln) c.569G>A (p.Arg190Gln) c.506G>A (p.Arg169Gln) c.566G>A (p.Arg189Gln) c.*262G>A (n.*262G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685772G>C | CA363834787 | CDKN1A | c.467G>C (p.Arg156Pro) c.569G>C (p.Arg190Pro) c.506G>C (p.Arg169Pro) c.566G>C (p.Arg189Pro) c.*262G>C (n.*262G>C) | |
| 6 | g.36685772G= | CA1621457569 | CDKN1A | c.467G= (p.Arg156=) c.569G= (p.Arg190=) c.506G= (p.Arg169=) c.566G= (p.Arg189=) c.*262G= (n.*262G=) | |
| 6 | g.36685772G>T | CA363834786 | CDKN1A | c.467G>T (p.Arg156Leu) c.569G>T (p.Arg190Leu) c.506G>T (p.Arg169Leu) c.566G>T (p.Arg189Leu) c.*262G>T (n.*262G>T) | |
| 6 | g.36685773G>A | CA3780441 | CDKN1A | c.468G>A (p.Arg156=) c.570G>A (p.Arg190=) c.507G>A (p.Arg169=) c.567G>A (p.Arg189=) c.*263G>A (n.*263G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685773G>C | CA137424808 | CDKN1A | c.468G>C (p.Arg156=) c.570G>C (p.Arg190=) c.507G>C (p.Arg169=) c.567G>C (p.Arg189=) c.*263G>C (n.*263G>C) | dbSNP |
| 6 | g.36685773G= | CA1621457570 | CDKN1A | c.468G= (p.Arg156=) c.570G= (p.Arg190=) c.507G= (p.Arg169=) c.567G= (p.Arg189=) c.*263G= (n.*263G=) | |
| 6 | g.36685773G>T | CA137424825 | CDKN1A | c.468G>T (p.Arg156=) c.570G>T (p.Arg190=) c.507G>T (p.Arg169=) c.567G>T (p.Arg189=) c.*263G>T (n.*263G>T) | dbSNP gnomAD v4 |
| 6 | g.36685774C>A | CA363834788 | CDKN1A | c.469C>A (p.Leu157Met) c.571C>A (p.Leu191Met) c.508C>A (p.Leu170Met) c.568C>A (p.Leu190Met) c.*264C>A (n.*264C>A) | |
| 6 | g.36685774C>G | CA363834789 | CDKN1A | c.469C>G (p.Leu157Val) c.571C>G (p.Leu191Val) c.508C>G (p.Leu170Val) c.568C>G (p.Leu190Val) c.*264C>G (n.*264C>G) | dbSNP |
| 6 | g.36685774C>T | CA449976487 | CDKN1A | c.469C>T (p.Leu157=) c.571C>T (p.Leu191=) c.508C>T (p.Leu170=) c.568C>T (p.Leu190=) c.*264C>T (n.*264C>T) | gnomAD v4 |