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 |
|---|---|---|---|---|---|
| 12 | g.101761615G>A | CA356543 | GNPTAB | c.2864C>T (p.Ala955Val) c.2783C>T (p.Ala928Val) c.2648C>T (p.Ala883Val) c.1637C>T (p.Ala546Val) | ClinVar dbSNP gnomAD v4 |
| 12 | g.[101761615G>A;101761696T>C] | CA356547 | GNPTAB | c.[2783A>G;2864C>T] (p.[Lys928Arg;Ala955Val]) c.[2702A>G;2783C>T] (p.[Lys901Arg;Ala928Val]) c.[2567A>G;2648C>T] (p.[Lys856Arg;Ala883Val]) c.[1556A>G;1637C>T] (p.[Lys519Arg;Ala546Val]) | ClinVar |
| 12 | g.101761615G>C | CA386296187 | GNPTAB | c.2864C>G (p.Ala955Gly) c.2783C>G (p.Ala928Gly) c.2648C>G (p.Ala883Gly) c.1637C>G (p.Ala546Gly) | |
| 12 | g.101761615G= | CA2058953055 | GNPTAB | c.2864C= (p.Ala955=) c.2783C= (p.Ala928=) c.2648C= (p.Ala883=) c.1637C= (p.Ala546=) | |
| 12 | g.101761615G>T | CA386296188 | GNPTAB | c.2864C>A (p.Ala955Asp) c.2783C>A (p.Ala928Asp) c.2648C>A (p.Ala883Asp) c.1637C>A (p.Ala546Asp) | |
| 12 | g.101761616C>A | CA386296189 | GNPTAB | c.2863G>T (p.Ala955Ser) c.2782G>T (p.Ala928Ser) c.2647G>T (p.Ala883Ser) c.1636G>T (p.Ala546Ser) | |
| 12 | g.101761616C>G | CA386296190 | GNPTAB | c.2863G>C (p.Ala955Pro) c.2782G>C (p.Ala928Pro) c.2647G>C (p.Ala883Pro) c.1636G>C (p.Ala546Pro) | |
| 12 | g.101761616C>T | CA386296191 | GNPTAB | c.2863G>A (p.Ala955Thr) c.2782G>A (p.Ala928Thr) c.2647G>A (p.Ala883Thr) c.1636G>A (p.Ala546Thr) | gnomAD v4 |
| 12 | g.101761617A= | CA2058953061 | GNPTAB | c.2862T= (p.Pro954=) c.2781T= (p.Pro927=) c.2646T= (p.Pro882=) c.1635T= (p.Pro545=) | |
| 12 | g.101761617A>C | CA481576708 | GNPTAB | c.2862T>G (p.Pro954=) c.2781T>G (p.Pro927=) c.2646T>G (p.Pro882=) c.1635T>G (p.Pro545=) | gnomAD v4 |
| 12 | g.101761617A>G | CA6746335 | GNPTAB | c.2862T>C (p.Pro954=) c.2781T>C (p.Pro927=) c.2646T>C (p.Pro882=) c.1635T>C (p.Pro545=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101761617A>T | CA481576707 | GNPTAB | c.2862T>A (p.Pro954=) c.2781T>A (p.Pro927=) c.2646T>A (p.Pro882=) c.1635T>A (p.Pro545=) | |
| 12 | g.101761618G>A | CA6746336 | GNPTAB | c.2861C>T (p.Pro954Leu) c.2780C>T (p.Pro927Leu) c.2645C>T (p.Pro882Leu) c.1634C>T (p.Pro545Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101761618G>C | CA386296193 | GNPTAB | c.2861C>G (p.Pro954Arg) c.2780C>G (p.Pro927Arg) c.2645C>G (p.Pro882Arg) c.1634C>G (p.Pro545Arg) | dbSNP |
| 12 | g.101761618G= | CA2058953069 | GNPTAB | c.2861C= (p.Pro954=) c.2780C= (p.Pro927=) c.2645C= (p.Pro882=) c.1634C= (p.Pro545=) | |
| 12 | g.101761618G>T | CA386296192 | GNPTAB | c.2861C>A (p.Pro954His) c.2780C>A (p.Pro927His) c.2645C>A (p.Pro882His) c.1634C>A (p.Pro545His) | |
| 12 | g.101761620dup | CA242454309 | GNPTAB | c.2861dup (p.Ala955CysfsTer8) c.2780dup (p.Ala928CysfsTer8) c.2645dup (p.Ala883CysfsTer8) c.1634dup (p.Ala546CysfsTer8) | dbSNP |
| 12 | g.101761619G>A | CA386296195 | GNPTAB | c.2860C>T (p.Pro954Ser) c.2779C>T (p.Pro927Ser) c.2644C>T (p.Pro882Ser) c.1633C>T (p.Pro545Ser) | gnomAD v4 |
| 12 | g.101761619G>C | CA386296194 | GNPTAB | c.2860C>G (p.Pro954Ala) c.2779C>G (p.Pro927Ala) c.2644C>G (p.Pro882Ala) c.1633C>G (p.Pro545Ala) | |
| 12 | g.101761619G>T | CA386296196 | GNPTAB | c.2860C>A (p.Pro954Thr) c.2779C>A (p.Pro927Thr) c.2644C>A (p.Pro882Thr) c.1633C>A (p.Pro545Thr) | |
| 12 | g.101761620G>A | CA6746337 | GNPTAB | c.2859C>T (p.Val953=) c.2778C>T (p.Val926=) c.2643C>T (p.Val881=) c.1632C>T (p.Val544=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101761620G>C | CA481576712 | GNPTAB | c.2859C>G (p.Val953=) c.2778C>G (p.Val926=) c.2643C>G (p.Val881=) c.1632C>G (p.Val544=) | |
| 12 | g.101761620G= | CA2058953072 | GNPTAB | c.2859C= (p.Val953=) c.2778C= (p.Val926=) c.2643C= (p.Val881=) c.1632C= (p.Val544=) | |
| 12 | g.101761620G>T | CA481576711 | GNPTAB | c.2859C>A (p.Val953=) c.2778C>A (p.Val926=) c.2643C>A (p.Val881=) c.1632C>A (p.Val544=) | |
| 12 | g.101761621A>C | CA386296197 | GNPTAB | c.2858T>G (p.Val953Gly) c.2777T>G (p.Val926Gly) c.2642T>G (p.Val881Gly) c.1631T>G (p.Val544Gly) | |
| 12 | g.101761621A>G | CA386296198 | GNPTAB | c.2858T>C (p.Val953Ala) c.2777T>C (p.Val926Ala) c.2642T>C (p.Val881Ala) c.1631T>C (p.Val544Ala) | |
| 12 | g.101761621A>T | CA386296199 | GNPTAB | c.2858T>A (p.Val953Asp) c.2777T>A (p.Val926Asp) c.2642T>A (p.Val881Asp) c.1631T>A (p.Val544Asp) | |
| 12 | g.101761622C>A | CA386296200 | GNPTAB | c.2857G>T (p.Val953Phe) c.2776G>T (p.Val926Phe) c.2641G>T (p.Val881Phe) c.1630G>T (p.Val544Phe) | |
| 12 | g.101761622C= | CA2058953076 | GNPTAB | c.2857G= (p.Val953=) c.2776G= (p.Val926=) c.2641G= (p.Val881=) c.1630G= (p.Val544=) | |
| 12 | g.101761622C>G | CA386296201 | GNPTAB | c.2857G>C (p.Val953Leu) c.2776G>C (p.Val926Leu) c.2641G>C (p.Val881Leu) c.1630G>C (p.Val544Leu) | dbSNP |
| 12 | g.101761622C>T | CA386296202 | GNPTAB | c.2857G>A (p.Val953Ile) c.2776G>A (p.Val926Ile) c.2641G>A (p.Val881Ile) c.1630G>A (p.Val544Ile) | |
| 12 | g.101761623T>A | CA386296203 | GNPTAB | c.2856A>T (p.Lys952Asn) c.2775A>T (p.Lys925Asn) c.2640A>T (p.Lys880Asn) c.1629A>T (p.Lys543Asn) | |
| 12 | g.101761623T>C | CA481576716 | GNPTAB | c.2856A>G (p.Lys952=) c.2775A>G (p.Lys925=) c.2640A>G (p.Lys880=) c.1629A>G (p.Lys543=) | |
| 12 | g.101761623T>G | CA386296204 | GNPTAB | c.2856A>C (p.Lys952Asn) c.2775A>C (p.Lys925Asn) c.2640A>C (p.Lys880Asn) c.1629A>C (p.Lys543Asn) | |
| 12 | g.101761624T>A | CA386296205 | GNPTAB | c.2855A>T (p.Lys952Ile) c.2774A>T (p.Lys925Ile) c.2639A>T (p.Lys880Ile) c.1628A>T (p.Lys543Ile) | |
| 12 | g.101761624T>C | CA386296206 | GNPTAB | c.2855A>G (p.Lys952Arg) c.2774A>G (p.Lys925Arg) c.2639A>G (p.Lys880Arg) c.1628A>G (p.Lys543Arg) | dbSNP |
| 12 | g.101761624T>G | CA386296207 | GNPTAB | c.2855A>C (p.Lys952Thr) c.2774A>C (p.Lys925Thr) c.2639A>C (p.Lys880Thr) c.1628A>C (p.Lys543Thr) | |
| 12 | g.101761624T= | CA2058953079 | GNPTAB | c.2855A= (p.Lys952=) c.2774A= (p.Lys925=) c.2639A= (p.Lys880=) c.1628A= (p.Lys543=) | |
| 12 | g.101761625T>A | CA386296208 | GNPTAB | c.2854A>T (p.Lys952Ter) c.2773A>T (p.Lys925Ter) c.2638A>T (p.Lys880Ter) c.1627A>T (p.Lys543Ter) | |
| 12 | g.101761625T>C | CA386296210 | GNPTAB | c.2854A>G (p.Lys952Glu) c.2773A>G (p.Lys925Glu) c.2638A>G (p.Lys880Glu) c.1627A>G (p.Lys543Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101761625T>G | CA386296209 | GNPTAB | c.2854A>C (p.Lys952Gln) c.2773A>C (p.Lys925Gln) c.2638A>C (p.Lys880Gln) c.1627A>C (p.Lys543Gln) | |
| 12 | g.101761625T= | CA2058953083 | GNPTAB | c.2854A= (p.Lys952=) c.2773A= (p.Lys925=) c.2638A= (p.Lys880=) c.1627A= (p.Lys543=) | |
| 12 | g.101761626C>A | CA481576718 | GNPTAB | c.2853G>T (p.Arg951=) c.2772G>T (p.Arg924=) c.2637G>T (p.Arg879=) c.1626G>T (p.Arg542=) | dbSNP gnomAD v4 |
| 12 | g.101761626C= | CA2058953085 | GNPTAB | c.2853G= (p.Arg951=) c.2772G= (p.Arg924=) c.2637G= (p.Arg879=) c.1626G= (p.Arg542=) | |
| 12 | g.101761626C>G | CA481576719 | GNPTAB | c.2853G>C (p.Arg951=) c.2772G>C (p.Arg924=) c.2637G>C (p.Arg879=) c.1626G>C (p.Arg542=) | gnomAD v4 |
| 12 | g.101761626C>T | CA481576720 | GNPTAB | c.2853G>A (p.Arg951=) c.2772G>A (p.Arg924=) c.2637G>A (p.Arg879=) c.1626G>A (p.Arg542=) | |
| 12 | g.101761627C>A | CA386296211 | GNPTAB | c.2852G>T (p.Arg951Leu) c.2771G>T (p.Arg924Leu) c.2636G>T (p.Arg879Leu) c.1625G>T (p.Arg542Leu) | |
| 12 | g.101761627C= | CA2058953087 | GNPTAB | c.2852G= (p.Arg951=) c.2771G= (p.Arg924=) c.2636G= (p.Arg879=) c.1625G= (p.Arg542=) | |
| 12 | g.101761627C>G | CA386296212 | GNPTAB | c.2852G>C (p.Arg951Pro) c.2771G>C (p.Arg924Pro) c.2636G>C (p.Arg879Pro) c.1625G>C (p.Arg542Pro) | |
| 12 | g.101761627C>T | CA6746338 | GNPTAB | c.2852G>A (p.Arg951Gln) c.2771G>A (p.Arg924Gln) c.2636G>A (p.Arg879Gln) c.1625G>A (p.Arg542Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |