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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822132A>T , CM000672.2:g.53822132A>T | GRCh38 |
| NC_000010.10:g.55581892A>T , CM000672.1:g.55581892A>T | GRCh37 |
| NC_000010.9:g.55251898A>T | NCBI36 |
| NG_009191.2:g.984160T>A | |
| NG_009191.3:g.1812051T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+3004T>A | ENSP00000482794.1:n.4409+3004T>A | |
| ENST00000320301.11:c.5594T>A MANE Plus Clinical | ENSP00000322604.6:p.Leu1865Gln | |
| ENST00000395445.6:c.4388+5261T>A | ENSP00000378832.2:n.4388+5261T>A | |
| ENST00000613657.5:c.4409+3004T>A | ENSP00000482794.1:n.4409+3004T>A | |
| ENST00000642496.1:c.3227-1902T>A | ||
| ENST00000644397.2:c.4368-1902T>A MANE Select | ENSP00000495195.1:n.4368-1902T>A | |
| ENST00000320301.10:c.5594T>A | ENSP00000322604.6:p.Leu1865Gln | |
| ENST00000361849.7:c.5600T>A | ENSP00000354950.3:p.Leu1867Gln | |
| ENST00000373956.7:c.*3549T>A | ENSP00000363067.4:n.*3549T>A | |
| ENST00000373957.7:c.5615T>A | ENSP00000363068.4:p.Leu1872Gln | |
| ENST00000373965.6:c.4373+3004T>A | ENSP00000363076.3:n.4373+3004T>A | |
| ENST00000395430.5:c.5585T>A | ENSP00000378818.1:p.Leu1862Gln | |
| ENST00000395432.6:c.5474T>A | ENSP00000378820.2:p.Leu1825Gln | |
| ENST00000395433.5:c.5525T>A | ENSP00000378821.1:p.Leu1842Gln | |
| ENST00000395438.5:c.4371+5260T>A | ENSP00000378826.2:n.4371+5260T>A | |
| ENST00000395440.5:c.1306-12586T>A | ENSP00000378827.1:n.1306-12586T>A | |
| ENST00000395442.5:c.1099-12586T>A | ENSP00000378829.1:n.1099-12586T>A | |
| ENST00000395445.5:c.4388+5261T>A | ENSP00000378832.2:n.4388+5261T>A | |
| ENST00000395446.5:c.2092-12586T>A | ENSP00000378833.1:n.2092-12586T>A | |
| ENST00000409834.5:c.3206+3004T>A | ENSP00000386693.1:n.3206+3004T>A | |
| ENST00000414367.5:c.*447+5261T>A | ENSP00000412531.1:n.*447+5261T>A | |
| ENST00000414778.5:c.4370+5261T>A | ENSP00000410304.2:n.4370+5261T>A | |
| ENST00000437009.5:c.5387T>A | ENSP00000412628.2:p.Leu1796Gln | |
| ENST00000448885.5:c.*3555T>A | ENSP00000412320.1:n.*3555T>A | |
| ENST00000463095.2:n.2613T>A | ||
| ENST00000495484.5:c.462-4119T>A | ENSP00000480780.1:n.462-4119T>A | |
| ENST00000612394.4:c.4406+5261T>A | ENSP00000482921.1:n.4406+5261T>A | |
| ENST00000613657.4:c.4409+3004T>A | ENSP00000482794.1:n.4409+3004T>A | |
| ENST00000614895.4:c.4385+5261T>A | ENSP00000478512.1:n.4385+5261T>A | |
| ENST00000616114.4:c.4367+5261T>A | ENSP00000483745.1:n.4367+5261T>A | |
| ENST00000617051.4:c.5621T>A | ENSP00000484703.1:p.Leu1874Gln | |
| ENST00000617271.4:c.4373+3004T>A | ENSP00000478076.1:n.4373+3004T>A | |
| ENST00000618301.4:c.594-4119T>A | ENSP00000482780.1:n.594-4119T>A | |
| ENST00000621708.4:c.4388+3004T>A | ENSP00000484454.1:n.4388+3004T>A | |
| ENST00000622048.4:c.5393T>A | ENSP00000482329.1:p.Leu1798Gln | |
| NM_001142763.1:c.5615T>A | NP_001136235.1:p.Leu1872Gln | |
| NM_001142764.1:c.5600T>A | NP_001136236.1:p.Leu1867Gln | |
| NM_001142765.1:c.5387T>A | NP_001136237.1:p.Leu1796Gln | |
| NM_001142766.1:c.5585T>A | NP_001136238.1:p.Leu1862Gln | |
| NM_001142767.1:c.5474T>A | NP_001136239.1:p.Leu1825Gln | |
| NM_001142768.1:c.5534T>A | NP_001136240.1:p.Leu1845Gln | |
| NM_001142769.1:c.4409+3004T>A | NP_001136241.1:n.4409+3004T>A | |
| NM_001142770.1:c.4373+3004T>A | NP_001136242.1:n.4373+3004T>A | |
| NM_001142771.1:c.4388+3004T>A | NP_001136243.1:n.4388+3004T>A | |
| NM_001142772.1:c.4373+3004T>A | NP_001136244.1:n.4373+3004T>A | |
| NM_001142773.1:c.5525T>A | NP_001136245.1:p.Leu1842Gln | |
| NM_033056.3:c.5594T>A | NP_149045.3:p.Leu1865Gln | |
| NM_001142769.2:c.4409+3004T>A | NP_001136241.1:n.4409+3004T>A | |
| NM_001142770.2:c.4373+3004T>A | NP_001136242.1:n.4373+3004T>A | |
| NM_001354404.1:c.5528T>A | NP_001341333.1:p.Leu1843Gln | |
| NM_001354411.1:c.4388+5261T>A | NP_001341340.1:n.4388+5261T>A | |
| NM_001354420.1:c.4367+5261T>A | NP_001341349.1:n.4367+5261T>A | |
| NM_001354429.1:c.4368-4119T>A | NP_001341358.1:n.4368-4119T>A | |
| XM_017016573.2:c.4388+3004T>A | XP_016872062.1:n.4388+3004T>A | |
| XR_001747192.2:n.6607T>A | ||
| XR_001747193.2:n.6598T>A | ||
| NM_001142763.2:c.5615T>A | NP_001136235.1:p.Leu1872Gln | |
| NM_001142764.2:c.5600T>A | NP_001136236.1:p.Leu1867Gln | |
| NM_001142765.2:c.5387T>A | NP_001136237.1:p.Leu1796Gln | |
| NM_001142766.2:c.5585T>A | NP_001136238.1:p.Leu1862Gln | |
| NM_001142768.2:c.5534T>A | NP_001136240.1:p.Leu1845Gln | |
| NM_001142769.3:c.4409+3004T>A | NP_001136241.1:n.4409+3004T>A | |
| NM_001142770.3:c.4373+3004T>A | NP_001136242.1:n.4373+3004T>A | |
| NM_001142771.2:c.4388+3004T>A | NP_001136243.1:n.4388+3004T>A | |
| NM_001142772.2:c.4373+3004T>A | NP_001136244.1:n.4373+3004T>A | |
| NM_001142773.2:c.5525T>A | NP_001136245.1:p.Leu1842Gln | |
| NM_001354411.2:c.4388+5261T>A | NP_001341340.1:n.4388+5261T>A | |
| NM_001354420.2:c.4367+5261T>A | NP_001341349.1:n.4367+5261T>A | |
| NM_001354429.2:c.4368-4119T>A | NP_001341358.1:n.4368-4119T>A | |
| NM_033056.4:c.5594T>A MANE Plus Clinical | NP_149045.3:p.Leu1865Gln | |
| NM_001142767.2:c.5474T>A | NP_001136239.1:p.Leu1825Gln | |
| NM_001354404.2:c.5528T>A | NP_001341333.1:p.Leu1843Gln | |
| NM_001384140.1:c.4368-1902T>A MANE Select | NP_001371069.1:n.4368-1902T>A |