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 |
|---|---|---|---|---|---|
| X | g.153866831T>A | CA415120698 | L1CAM | c.2249A>T (p.Tyr750Phe) c.2234A>T (p.Tyr745Phe) c.511A>T | |
| X | g.153866831T>C | CA415120699 | L1CAM | c.2249A>G (p.Tyr750Cys) c.2234A>G (p.Tyr745Cys) c.511A>G | ClinVar dbSNP |
| X | g.153866831T>G | CA16621230 | L1CAM | c.2249A>C (p.Tyr750Ser) c.2234A>C (p.Tyr745Ser) c.511A>C | ClinVar dbSNP |
| X | g.153866831T= | CA2466506081 | L1CAM | c.2249A= (p.Tyr750=) c.2234A= (p.Tyr745=) c.511A= | |
| X | g.153866832A>C | CA415120708 | L1CAM | c.2248T>G (p.Tyr750Asp) c.2233T>G (p.Tyr745Asp) c.510T>G | |
| X | g.153866832A>G | CA415120711 | L1CAM | c.2248T>C (p.Tyr750His) c.2233T>C (p.Tyr745His) c.510T>C | |
| X | g.153866832A>T | CA415120709 | L1CAM | c.2248T>A (p.Tyr750Asn) c.2233T>A (p.Tyr745Asn) c.510T>A | |
| X | g.153866833C>A | CA415120713 | L1CAM | c.2247G>T (p.Gln749His) c.2232G>T (p.Gln744His) c.509G>T | |
| X | g.153866833C>G | CA415120715 | L1CAM | c.2247G>C (p.Gln749His) c.2232G>C (p.Gln744His) c.509G>C | |
| X | g.153866833C>T | CA519343774 | L1CAM | c.2247G>A (p.Gln749=) c.2232G>A (p.Gln744=) c.509G>A | gnomAD v4 |
| X | g.153866834T>A | CA415120717 | L1CAM | c.2246A>T (p.Gln749Leu) c.2231A>T (p.Gln744Leu) c.508A>T | |
| X | g.153866834T>C | CA415120720 | L1CAM | c.2246A>G (p.Gln749Arg) c.2231A>G (p.Gln744Arg) c.508A>G | gnomAD v4 |
| X | g.153866834T>G | CA415120723 | L1CAM | c.2246A>C (p.Gln749Pro) c.2231A>C (p.Gln744Pro) c.508A>C | |
| X | g.153866835G>A | CA415120725 | L1CAM | c.2245C>T (p.Gln749Ter) c.2230C>T (p.Gln744Ter) c.507C>T | |
| X | g.153866835G>C | CA415120727 | L1CAM | c.2245C>G (p.Gln749Glu) c.2230C>G (p.Gln744Glu) c.507C>G | |
| X | g.153866835G>T | CA415120729 | L1CAM | c.2245C>A (p.Gln749Lys) c.2230C>A (p.Gln744Lys) c.507C>A | |
| X | g.153866836A>C | CA519343775 | L1CAM | c.2244T>G (p.Val748=) c.2229T>G (p.Val743=) c.506T>G | |
| X | g.153866836A>G | CA519343776 | L1CAM | c.2244T>C (p.Val748=) c.2229T>C (p.Val743=) c.506T>C | |
| X | g.153866836A>T | CA519343777 | L1CAM | c.2244T>A (p.Val748=) c.2229T>A (p.Val743=) c.506T>A | |
| X | g.153866837A= | CA2466506085 | L1CAM | c.2243T= (p.Val748=) c.2228T= (p.Val743=) c.505T= | |
| X | g.153866837A>C | CA415120735 | L1CAM | c.2243T>G (p.Val748Gly) c.2228T>G (p.Val743Gly) c.505T>G | |
| X | g.153866837A>G | CA10554200 | L1CAM | c.2243T>C (p.Val748Ala) c.2228T>C (p.Val743Ala) c.505T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153866837A>T | CA415120732 | L1CAM | c.2243T>A (p.Val748Asp) c.2228T>A (p.Val743Asp) c.505T>A | |
| X | g.153866838C>A | CA415120737 | L1CAM | c.2242G>T (p.Val748Phe) c.2227G>T (p.Val743Phe) c.504G>T | dbSNP |
| X | g.153866838C= | CA2466506089 | L1CAM | c.2242G= (p.Val748=) c.2227G= (p.Val743=) c.504G= | |
| X | g.153866838C>G | CA415120740 | L1CAM | c.2242G>C (p.Val748Leu) c.2227G>C (p.Val743Leu) c.504G>C | |
| X | g.153866838C>T | CA415120742 | L1CAM | c.2242G>A (p.Val748Ile) c.2227G>A (p.Val743Ile) c.504G>A | |
| X | g.153866839C>A | CA415120744 | L1CAM | c.2241G>T (p.Gln747His) c.2226G>T (p.Gln742His) c.503G>T | dbSNP |
| X | g.153866839C= | CA2466506091 | L1CAM | c.2241G= (p.Gln747=) c.2226G= (p.Gln742=) c.503G= | |
| X | g.153866839C>G | CA415120746 | L1CAM | c.2241G>C (p.Gln747His) c.2226G>C (p.Gln742His) c.503G>C | |
| X | g.153866839C>T | CA519343778 | L1CAM | c.2241G>A (p.Gln747=) c.2226G>A (p.Gln742=) c.503G>A | |
| X | g.153866840T>A | CA415120749 | L1CAM | c.2240A>T (p.Gln747Leu) c.2225A>T (p.Gln742Leu) c.502A>T | |
| X | g.153866840T>C | CA415120751 | L1CAM | c.2240A>G (p.Gln747Arg) c.2225A>G (p.Gln742Arg) c.502A>G | |
| X | g.153866840T>G | CA415120754 | L1CAM | c.2240A>C (p.Gln747Pro) c.2225A>C (p.Gln742Pro) c.502A>C | |
| X | g.153866840_153866841delinsTG | CA2466506095 | L1CAM | c.2239_2240delinsCA (p.Gln747=) c.2224_2225delinsCA (p.Gln742=) c.501_502delinsCA | |
| X | g.153866841G>A | CA415120757 | L1CAM | c.2239C>T (p.Gln747Ter) c.2224C>T (p.Gln742Ter) c.501C>T | |
| X | g.153866841G>C | CA415120758 | L1CAM | c.2239C>G (p.Gln747Glu) c.2224C>G (p.Gln742Glu) c.501C>G | |
| X | g.153866841G>T | CA415120761 | L1CAM | c.2239C>A (p.Gln747Lys) c.2224C>A (p.Gln742Lys) c.501C>A | |
| X | g.153866846dup | CA2824280632 | L1CAM | c.2239dup (p.Gln747ProfsTer?) c.2224dup (p.Gln742ProfsTer?) c.501dup | |
| X | g.153866846del | CA10554201 | L1CAM | c.2239del (p.Gln747ArgfsTer?) c.2224del (p.Gln742ArgfsTer?) c.501del | dbSNP ExAC |
| X | g.153866842G>A | CA10554202 | L1CAM | c.2238C>T (p.Pro746=) c.2223C>T (p.Pro741=) c.500C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153866842G>C | CA519343779 | L1CAM | c.2238C>G (p.Pro746=) c.2223C>G (p.Pro741=) c.500C>G | |
| X | g.153866842G= | CA2466506114 | L1CAM | c.2238C= (p.Pro746=) c.2223C= (p.Pro741=) c.500C= | |
| X | g.153866842G>T | CA519343780 | L1CAM | c.2238C>A (p.Pro746=) c.2223C>A (p.Pro741=) c.500C>A | |
| X | g.153866843G>A | CA415120766 | L1CAM | c.2237C>T (p.Pro746Leu) c.2222C>T (p.Pro741Leu) c.499C>T | |
| X | g.153866843G>C | CA415120770 | L1CAM | c.2237C>G (p.Pro746Arg) c.2222C>G (p.Pro741Arg) c.499C>G | |
| X | g.153866843G>T | CA415120768 | L1CAM | c.2237C>A (p.Pro746His) c.2222C>A (p.Pro741His) c.499C>A | |
| X | g.153866844G>A | CA415120771 | L1CAM | c.2236C>T (p.Pro746Ser) c.2221C>T (p.Pro741Ser) c.498C>T | ClinVar |
| X | g.153866844G>C | CA415120773 | L1CAM | c.2236C>G (p.Pro746Ala) c.2221C>G (p.Pro741Ala) c.498C>G | |
| X | g.153866844G>T | CA415120776 | L1CAM | c.2236C>A (p.Pro746Thr) c.2221C>A (p.Pro741Thr) c.498C>A |