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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53823251G>A , CM000672.2:g.53823251G>A | GRCh38 |
| NC_000010.10:g.55583011G>A , CM000672.1:g.55583011G>A | GRCh37 |
| NC_000010.9:g.55253017G>A | NCBI36 |
| NG_009191.2:g.983041C>T | |
| NG_009191.3:g.1810932C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+1885C>T | ENSP00000482794.1:n.4409+1885C>T | |
| ENST00000320301.11:c.4475C>T MANE Plus Clinical | ENSP00000322604.6:p.Ala1492Val | |
| ENST00000395445.6:c.4388+4142C>T | ENSP00000378832.2:n.4388+4142C>T | |
| ENST00000613657.5:c.4409+1885C>T | ENSP00000482794.1:n.4409+1885C>T | |
| ENST00000642496.1:c.3227-3021C>T | ||
| ENST00000644397.2:c.4368-3021C>T MANE Select | ENSP00000495195.1:n.4368-3021C>T | |
| ENST00000320301.10:c.4475C>T | ENSP00000322604.6:p.Ala1492Val | |
| ENST00000361849.7:c.4481C>T | ENSP00000354950.3:p.Ala1494Val | |
| ENST00000373956.7:c.*2430C>T | ENSP00000363067.4:n.*2430C>T | |
| ENST00000373957.7:c.4496C>T | ENSP00000363068.4:p.Ala1499Val | |
| ENST00000373965.6:c.4373+1885C>T | ENSP00000363076.3:n.4373+1885C>T | |
| ENST00000395430.5:c.4466C>T | ENSP00000378818.1:p.Ala1489Val | |
| ENST00000395432.6:c.4355C>T | ENSP00000378820.2:p.Ala1452Val | |
| ENST00000395433.5:c.4406C>T | ENSP00000378821.1:p.Ala1469Val | |
| ENST00000395438.5:c.4371+4141C>T | ENSP00000378826.2:n.4371+4141C>T | |
| ENST00000395440.5:c.1306-13705C>T | ENSP00000378827.1:n.1306-13705C>T | |
| ENST00000395442.5:c.1099-13705C>T | ENSP00000378829.1:n.1099-13705C>T | |
| ENST00000395445.5:c.4388+4142C>T | ENSP00000378832.2:n.4388+4142C>T | |
| ENST00000395446.5:c.2092-13705C>T | ENSP00000378833.1:n.2092-13705C>T | |
| ENST00000409834.5:c.3206+1885C>T | ENSP00000386693.1:n.3206+1885C>T | |
| ENST00000414367.5:c.*447+4142C>T | ENSP00000412531.1:n.*447+4142C>T | |
| ENST00000414778.5:c.4370+4142C>T | ENSP00000410304.2:n.4370+4142C>T | |
| ENST00000437009.5:c.4268C>T | ENSP00000412628.2:p.Ala1423Val | |
| ENST00000448885.5:c.*2436C>T | ENSP00000412320.1:n.*2436C>T | |
| ENST00000463095.2:n.1494C>T | ||
| ENST00000495484.5:c.462-5238C>T | ENSP00000480780.1:n.462-5238C>T | |
| ENST00000612394.4:c.4406+4142C>T | ENSP00000482921.1:n.4406+4142C>T | |
| ENST00000613657.4:c.4409+1885C>T | ENSP00000482794.1:n.4409+1885C>T | |
| ENST00000614895.4:c.4385+4142C>T | ENSP00000478512.1:n.4385+4142C>T | |
| ENST00000616114.4:c.4367+4142C>T | ENSP00000483745.1:n.4367+4142C>T | |
| ENST00000617051.4:c.4502C>T | ENSP00000484703.1:p.Ala1501Val | |
| ENST00000617271.4:c.4373+1885C>T | ENSP00000478076.1:n.4373+1885C>T | |
| ENST00000618301.4:c.593+4142C>T | ENSP00000482780.1:n.593+4142C>T | |
| ENST00000621708.4:c.4388+1885C>T | ENSP00000484454.1:n.4388+1885C>T | |
| ENST00000622048.4:c.4274C>T | ENSP00000482329.1:p.Ala1425Val | |
| NM_001142763.1:c.4496C>T | NP_001136235.1:p.Ala1499Val | |
| NM_001142764.1:c.4481C>T | NP_001136236.1:p.Ala1494Val | |
| NM_001142765.1:c.4268C>T | NP_001136237.1:p.Ala1423Val | |
| NM_001142766.1:c.4466C>T | NP_001136238.1:p.Ala1489Val | |
| NM_001142767.1:c.4355C>T | NP_001136239.1:p.Ala1452Val | |
| NM_001142768.1:c.4415C>T | NP_001136240.1:p.Ala1472Val | |
| NM_001142769.1:c.4409+1885C>T | NP_001136241.1:n.4409+1885C>T | |
| NM_001142770.1:c.4373+1885C>T | NP_001136242.1:n.4373+1885C>T | |
| NM_001142771.1:c.4388+1885C>T | NP_001136243.1:n.4388+1885C>T | |
| NM_001142772.1:c.4373+1885C>T | NP_001136244.1:n.4373+1885C>T | |
| NM_001142773.1:c.4406C>T | NP_001136245.1:p.Ala1469Val | |
| NM_033056.3:c.4475C>T | NP_149045.3:p.Ala1492Val | |
| NM_001142769.2:c.4409+1885C>T | NP_001136241.1:n.4409+1885C>T | |
| NM_001142770.2:c.4373+1885C>T | NP_001136242.1:n.4373+1885C>T | |
| NM_001354404.1:c.4409C>T | NP_001341333.1:p.Ala1470Val | |
| NM_001354411.1:c.4388+4142C>T | NP_001341340.1:n.4388+4142C>T | |
| NM_001354420.1:c.4367+4142C>T | NP_001341349.1:n.4367+4142C>T | |
| NM_001354429.1:c.4367+4142C>T | NP_001341358.1:n.4367+4142C>T | |
| XM_017016573.2:c.4388+1885C>T | XP_016872062.1:n.4388+1885C>T | |
| XR_001747192.2:n.5488C>T | ||
| XR_001747193.2:n.5479C>T | ||
| NM_001142763.2:c.4496C>T | NP_001136235.1:p.Ala1499Val | |
| NM_001142764.2:c.4481C>T | NP_001136236.1:p.Ala1494Val | |
| NM_001142765.2:c.4268C>T | NP_001136237.1:p.Ala1423Val | |
| NM_001142766.2:c.4466C>T | NP_001136238.1:p.Ala1489Val | |
| NM_001142768.2:c.4415C>T | NP_001136240.1:p.Ala1472Val | |
| NM_001142769.3:c.4409+1885C>T | NP_001136241.1:n.4409+1885C>T | |
| NM_001142770.3:c.4373+1885C>T | NP_001136242.1:n.4373+1885C>T | |
| NM_001142771.2:c.4388+1885C>T | NP_001136243.1:n.4388+1885C>T | |
| NM_001142772.2:c.4373+1885C>T | NP_001136244.1:n.4373+1885C>T | |
| NM_001142773.2:c.4406C>T | NP_001136245.1:p.Ala1469Val | |
| NM_001354411.2:c.4388+4142C>T | NP_001341340.1:n.4388+4142C>T | |
| NM_001354420.2:c.4367+4142C>T | NP_001341349.1:n.4367+4142C>T | |
| NM_001354429.2:c.4367+4142C>T | NP_001341358.1:n.4367+4142C>T | |
| NM_033056.4:c.4475C>T MANE Plus Clinical | NP_149045.3:p.Ala1492Val | |
| NM_001142767.2:c.4355C>T | NP_001136239.1:p.Ala1452Val | |
| NM_001354404.2:c.4409C>T | NP_001341333.1:p.Ala1470Val | |
| NM_001384140.1:c.4368-3021C>T MANE Select | NP_001371069.1:n.4368-3021C>T |