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.53823169C= , CM000672.2:g.53823169C= | GRCh38 |
| NC_000010.10:g.55582929C= , CM000672.1:g.55582929C= | GRCh37 |
| NC_000010.9:g.55252935C= | NCBI36 |
| NG_009191.2:g.983123G= | |
| NG_009191.3:g.1811014G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+1967G= | ENSP00000482794.1:n.4409+1967G= | |
| ENST00000320301.11:c.4557G= MANE Plus Clinical | ENSP00000322604.6:p.Glu1519= | |
| ENST00000395445.6:c.4388+4224G= | ENSP00000378832.2:n.4388+4224G= | |
| ENST00000613657.5:c.4409+1967G= | ENSP00000482794.1:n.4409+1967G= | |
| ENST00000642496.1:c.3227-2939G= | ||
| ENST00000644397.2:c.4368-2939G= MANE Select | ENSP00000495195.1:n.4368-2939G= | |
| ENST00000320301.10:c.4557G= | ENSP00000322604.6:p.Glu1519= | |
| ENST00000361849.7:c.4563G= | ENSP00000354950.3:p.Glu1521= | |
| ENST00000373956.7:c.*2512G= | ENSP00000363067.4:n.*2512G= | |
| ENST00000373957.7:c.4578G= | ENSP00000363068.4:p.Glu1526= | |
| ENST00000373965.6:c.4373+1967G= | ENSP00000363076.3:n.4373+1967G= | |
| ENST00000395430.5:c.4548G= | ENSP00000378818.1:p.Glu1516= | |
| ENST00000395432.6:c.4437G= | ENSP00000378820.2:p.Glu1479= | |
| ENST00000395433.5:c.4488G= | ENSP00000378821.1:p.Glu1496= | |
| ENST00000395438.5:c.4371+4223G= | ENSP00000378826.2:n.4371+4223G= | |
| ENST00000395440.5:c.1306-13623G= | ENSP00000378827.1:n.1306-13623G= | |
| ENST00000395442.5:c.1099-13623G= | ENSP00000378829.1:n.1099-13623G= | |
| ENST00000395445.5:c.4388+4224G= | ENSP00000378832.2:n.4388+4224G= | |
| ENST00000395446.5:c.2092-13623G= | ENSP00000378833.1:n.2092-13623G= | |
| ENST00000409834.5:c.3206+1967G= | ENSP00000386693.1:n.3206+1967G= | |
| ENST00000414367.5:c.*447+4224G= | ENSP00000412531.1:n.*447+4224G= | |
| ENST00000414778.5:c.4370+4224G= | ENSP00000410304.2:n.4370+4224G= | |
| ENST00000437009.5:c.4350G= | ENSP00000412628.2:p.Glu1450= | |
| ENST00000448885.5:c.*2518G= | ENSP00000412320.1:n.*2518G= | |
| ENST00000463095.2:n.1576G= | ||
| ENST00000495484.5:c.462-5156G= | ENSP00000480780.1:n.462-5156G= | |
| ENST00000612394.4:c.4406+4224G= | ENSP00000482921.1:n.4406+4224G= | |
| ENST00000613657.4:c.4409+1967G= | ENSP00000482794.1:n.4409+1967G= | |
| ENST00000614895.4:c.4385+4224G= | ENSP00000478512.1:n.4385+4224G= | |
| ENST00000616114.4:c.4367+4224G= | ENSP00000483745.1:n.4367+4224G= | |
| ENST00000617051.4:c.4584G= | ENSP00000484703.1:p.Glu1528= | |
| ENST00000617271.4:c.4373+1967G= | ENSP00000478076.1:n.4373+1967G= | |
| ENST00000618301.4:c.593+4224G= | ENSP00000482780.1:n.593+4224G= | |
| ENST00000621708.4:c.4388+1967G= | ENSP00000484454.1:n.4388+1967G= | |
| ENST00000622048.4:c.4356G= | ENSP00000482329.1:p.Glu1452= | |
| NM_001142763.1:c.4578G= | NP_001136235.1:p.Glu1526= | |
| NM_001142764.1:c.4563G= | NP_001136236.1:p.Glu1521= | |
| NM_001142765.1:c.4350G= | NP_001136237.1:p.Glu1450= | |
| NM_001142766.1:c.4548G= | NP_001136238.1:p.Glu1516= | |
| NM_001142767.1:c.4437G= | NP_001136239.1:p.Glu1479= | |
| NM_001142768.1:c.4497G= | NP_001136240.1:p.Glu1499= | |
| NM_001142769.1:c.4409+1967G= | NP_001136241.1:n.4409+1967G= | |
| NM_001142770.1:c.4373+1967G= | NP_001136242.1:n.4373+1967G= | |
| NM_001142771.1:c.4388+1967G= | NP_001136243.1:n.4388+1967G= | |
| NM_001142772.1:c.4373+1967G= | NP_001136244.1:n.4373+1967G= | |
| NM_001142773.1:c.4488G= | NP_001136245.1:p.Glu1496= | |
| NM_033056.3:c.4557G= | NP_149045.3:p.Glu1519= | |
| NM_001142769.2:c.4409+1967G= | NP_001136241.1:n.4409+1967G= | |
| NM_001142770.2:c.4373+1967G= | NP_001136242.1:n.4373+1967G= | |
| NM_001354404.1:c.4491G= | NP_001341333.1:p.Glu1497= | |
| NM_001354411.1:c.4388+4224G= | NP_001341340.1:n.4388+4224G= | |
| NM_001354420.1:c.4367+4224G= | NP_001341349.1:n.4367+4224G= | |
| NM_001354429.1:c.4367+4224G= | NP_001341358.1:n.4367+4224G= | |
| XM_017016573.2:c.4388+1967G= | XP_016872062.1:n.4388+1967G= | |
| XR_001747192.2:n.5570G= | ||
| XR_001747193.2:n.5561G= | ||
| NM_001142763.2:c.4578G= | NP_001136235.1:p.Glu1526= | |
| NM_001142764.2:c.4563G= | NP_001136236.1:p.Glu1521= | |
| NM_001142765.2:c.4350G= | NP_001136237.1:p.Glu1450= | |
| NM_001142766.2:c.4548G= | NP_001136238.1:p.Glu1516= | |
| NM_001142768.2:c.4497G= | NP_001136240.1:p.Glu1499= | |
| NM_001142769.3:c.4409+1967G= | NP_001136241.1:n.4409+1967G= | |
| NM_001142770.3:c.4373+1967G= | NP_001136242.1:n.4373+1967G= | |
| NM_001142771.2:c.4388+1967G= | NP_001136243.1:n.4388+1967G= | |
| NM_001142772.2:c.4373+1967G= | NP_001136244.1:n.4373+1967G= | |
| NM_001142773.2:c.4488G= | NP_001136245.1:p.Glu1496= | |
| NM_001354411.2:c.4388+4224G= | NP_001341340.1:n.4388+4224G= | |
| NM_001354420.2:c.4367+4224G= | NP_001341349.1:n.4367+4224G= | |
| NM_001354429.2:c.4367+4224G= | NP_001341358.1:n.4367+4224G= | |
| NM_033056.4:c.4557G= MANE Plus Clinical | NP_149045.3:p.Glu1519= | |
| NM_001142767.2:c.4437G= | NP_001136239.1:p.Glu1479= | |
| NM_001354404.2:c.4491G= | NP_001341333.1:p.Glu1497= | |
| NM_001384140.1:c.4368-2939G= MANE Select | NP_001371069.1:n.4368-2939G= |