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 |
|---|---|---|---|---|---|
| 2 | g.135800639C>A | CA144318 | LCT | c.4834G>T (p.Glu1612Ter) c.2960-2501G>T (n.2960-2501G>T) | ClinVar dbSNP |
| 2 | g.135800639C= | CA1290827601 | LCT | c.4834G= (p.Glu1612=) c.2960-2501G= (n.2960-2501G=) | |
| 2 | g.135800639C>G | CA348592485 | LCT | c.4834G>C (p.Glu1612Gln) c.2960-2501G>C (n.2960-2501G>C) | gnomAD v4 |
| 2 | g.135800639C>T | CA348592490 | LCT | c.4834G>A (p.Glu1612Lys) c.2960-2501G>A (n.2960-2501G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.135800640C>A | CA348592493 | LCT | c.4833G>T (p.Gln1611His) c.2960-2502G>T (n.2960-2502G>T) | dbSNP gnomAD v4 |
| 2 | g.135800640C>G | CA348592492 | LCT | c.4833G>C (p.Gln1611His) c.2960-2502G>C (n.2960-2502G>C) | |
| 2 | g.135800640C>T | CA429086330 | LCT | c.4833G>A (p.Gln1611=) c.2960-2502G>A (n.2960-2502G>A) | |
| 2 | g.135800641T>A | CA348592496 | LCT | c.4832A>T (p.Gln1611Leu) c.2960-2503A>T (n.2960-2503A>T) | |
| 2 | g.135800641T>C | CA348592498 | LCT | c.4832A>G (p.Gln1611Arg) c.2960-2503A>G (n.2960-2503A>G) | gnomAD v4 |
| 2 | g.135800641T>G | CA348592501 | LCT | c.4832A>C (p.Gln1611Pro) c.2960-2503A>C (n.2960-2503A>C) | |
| 2 | g.135800642G>A | CA348592505 | LCT | c.4831C>T (p.Gln1611Ter) c.2960-2504C>T (n.2960-2504C>T) | |
| 2 | g.135800642G>C | CA348592507 | LCT | c.4831C>G (p.Gln1611Glu) c.2960-2504C>G (n.2960-2504C>G) | |
| 2 | g.135800642G>T | CA348592510 | LCT | c.4831C>A (p.Gln1611Lys) c.2960-2504C>A (n.2960-2504C>A) | |
| 2 | g.135800643G>A | CA429086333 | LCT | c.4830C>T (p.Asn1610=) c.2960-2505C>T (n.2960-2505C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.135800643G>C | CA348592516 | LCT | c.4830C>G (p.Asn1610Lys) c.2960-2505C>G (n.2960-2505C>G) | |
| 2 | g.135800643G= | CA1290827602 | LCT | c.4830C= (p.Asn1610=) c.2960-2505C= (n.2960-2505C=) | |
| 2 | g.135800643G>T | CA348592513 | LCT | c.4830C>A (p.Asn1610Lys) c.2960-2505C>A (n.2960-2505C>A) | |
| 2 | g.135800644T>A | CA348592519 | LCT | c.4829A>T (p.Asn1610Ile) c.2960-2506A>T (n.2960-2506A>T) | |
| 2 | g.135800644T>C | CA348592524 | LCT | c.4829A>G (p.Asn1610Ser) c.2960-2506A>G (n.2960-2506A>G) | |
| 2 | g.135800644T>G | CA348592528 | LCT | c.4829A>C (p.Asn1610Thr) c.2960-2506A>C (n.2960-2506A>C) | |
| 2 | g.135800645T>A | CA348592529 | LCT | c.4828A>T (p.Asn1610Tyr) c.2960-2507A>T (n.2960-2507A>T) | |
| 2 | g.135800645T>C | CA348592532 | LCT | c.4828A>G (p.Asn1610Asp) c.2960-2507A>G (n.2960-2507A>G) | |
| 2 | g.135800645T>G | CA348592535 | LCT | c.4828A>C (p.Asn1610His) c.2960-2507A>C (n.2960-2507A>C) | |
| 2 | g.135800646A= | CA1290827603 | LCT | c.4827T= (p.Ser1609=) c.2960-2508T= (n.2960-2508T=) | |
| 2 | g.135800646A>C | CA429086335 | LCT | c.4827T>G (p.Ser1609=) c.2960-2508T>G (n.2960-2508T>G) | |
| 2 | g.135800646A>G | CA429086336 | LCT | c.4827T>C (p.Ser1609=) c.2960-2508T>C (n.2960-2508T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.135800646A>T | CA429086337 | LCT | c.4827T>A (p.Ser1609=) c.2960-2508T>A (n.2960-2508T>A) | |
| 2 | g.135800647G>A | CA348592538 | LCT | c.4826C>T (p.Ser1609Phe) c.2960-2509C>T (n.2960-2509C>T) | |
| 2 | g.135800647G>C | CA348592546 | LCT | c.4826C>G (p.Ser1609Cys) c.2960-2509C>G (n.2960-2509C>G) | |
| 2 | g.135800647G>T | CA348592541 | LCT | c.4826C>A (p.Ser1609Tyr) c.2960-2509C>A (n.2960-2509C>A) | |
| 2 | g.135800648A>C | CA348592548 | LCT | c.4825T>G (p.Ser1609Ala) c.2960-2510T>G (n.2960-2510T>G) | |
| 2 | g.135800648A>G | CA348592550 | LCT | c.4825T>C (p.Ser1609Pro) c.2960-2510T>C (n.2960-2510T>C) | |
| 2 | g.135800648A>T | CA348592553 | LCT | c.4825T>A (p.Ser1609Thr) c.2960-2510T>A (n.2960-2510T>A) | |
| 2 | g.135800649G>A | CA429086338 | LCT | c.4824C>T (p.Pro1608=) c.2960-2511C>T (n.2960-2511C>T) | dbSNP |
| 2 | g.135800649G>C | CA429086343 | LCT | c.4824C>G (p.Pro1608=) c.2960-2511C>G (n.2960-2511C>G) | |
| 2 | g.135800649G= | CA1290827604 | LCT | c.4824C= (p.Pro1608=) c.2960-2511C= (n.2960-2511C=) | |
| 2 | g.135800649G>T | CA429086340 | LCT | c.4824C>A (p.Pro1608=) c.2960-2511C>A (n.2960-2511C>A) | |
| 2 | g.135800650G>A | CA348592556 | LCT | c.4823C>T (p.Pro1608Leu) c.2960-2512C>T (n.2960-2512C>T) | |
| 2 | g.135800650G>C | CA348592559 | LCT | c.4823C>G (p.Pro1608Arg) c.2960-2512C>G (n.2960-2512C>G) | |
| 2 | g.135800650G>T | CA348592562 | LCT | c.4823C>A (p.Pro1608His) c.2960-2512C>A (n.2960-2512C>A) | |
| 2 | g.135800651G>A | CA348592568 | LCT | c.4822C>T (p.Pro1608Ser) c.2960-2513C>T (n.2960-2513C>T) | COSMIC |
| 2 | g.135800651G>C | CA348592565 | LCT | c.4822C>G (p.Pro1608Ala) c.2960-2513C>G (n.2960-2513C>G) | dbSNP gnomAD v4 |
| 2 | g.135800651G= | CA1290827605 | LCT | c.4822C= (p.Pro1608=) c.2960-2513C= (n.2960-2513C=) | |
| 2 | g.135800651G>T | CA348592567 | LCT | c.4822C>A (p.Pro1608Thr) c.2960-2513C>A (n.2960-2513C>A) | |
| 2 | g.135800652A= | CA1290827606 | LCT | c.4821T= (p.Asp1607=) c.2960-2514T= (n.2960-2514T=) | |
| 2 | g.135800652A>C | CA348592570 | LCT | c.4821T>G (p.Asp1607Glu) c.2960-2514T>G (n.2960-2514T>G) | |
| 2 | g.135800652A>G | CA429086347 | LCT | c.4821T>C (p.Asp1607=) c.2960-2514T>C (n.2960-2514T>C) | dbSNP |
| 2 | g.135800652A>T | CA348592572 | LCT | c.4821T>A (p.Asp1607Glu) c.2960-2514T>A (n.2960-2514T>A) | |
| 2 | g.135800653T>A | CA348592576 | LCT | c.4820A>T (p.Asp1607Val) c.2960-2515A>T (n.2960-2515A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.135800653T>C | CA348592579 | LCT | c.4820A>G (p.Asp1607Gly) c.2960-2515A>G (n.2960-2515A>G) | gnomAD v4 |