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_000023.11:g.31147358G>T , CM000685.2:g.31147358G>T | GRCh38 |
| NC_000023.10:g.31165475G>T , CM000685.1:g.31165475G>T | GRCh37 |
| NC_000023.9:g.31075396G>T | NCBI36 |
| NG_012232.1:g.2197252C>A , LRG_199:g.2197252C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358062.7:c.5521C>A | ENSP00000350765.3:p.Leu1841Met | |
| ENST00000680162.2:c.1405C>A | ENSP00000506634.2:p.Leu469Met | |
| ENST00000680768.2:c.1471C>A | ENSP00000506359.2:p.Leu491Met | |
| ENST00000681989.1:n.1512C>A | ||
| ENST00000682207.1:n.834C>A | ||
| ENST00000682238.1:c.3004C>A | ENSP00000508124.1:p.Leu1002Met | |
| ENST00000682322.1:c.1405C>A | ENSP00000507690.1:p.Leu469Met | |
| ENST00000682600.1:c.1471C>A | ENSP00000507640.1:p.Leu491Met | |
| ENST00000682769.1:n.1306C>A | ||
| ENST00000683503.1:n.2529C>A | ||
| ENST00000683509.1:n.2192C>A | ||
| ENST00000683675.1:n.1813C>A | ||
| ENST00000683709.1:n.2193C>A | ||
| ENST00000683957.1:n.4167C>A | ||
| ENST00000683995.1:n.859C>A | ||
| ENST00000684072.1:n.943C>A | ||
| ENST00000684103.1:n.1122C>A | ||
| ENST00000684130.1:c.3295C>A | ENSP00000508037.1:p.Leu1099Met | |
| ENST00000684342.1:n.1758C>A | ||
| ENST00000684350.1:n.2529C>A | ||
| ENST00000343523.7:c.2569C>A | ENSP00000340057.4:p.Leu857Met | |
| ENST00000357033.9:c.10714C>A MANE Select | ENSP00000354923.3:p.Leu3572Met | |
| ENST00000619831.5:c.6682C>A | ENSP00000479270.2:p.Leu2228Met | |
| ENST00000620040.5:c.3295C>A | ENSP00000478150.2:p.Leu1099Met | |
| ENST00000679437.1:c.376C>A | ENSP00000506629.1:p.Leu126Met | |
| ENST00000679641.1:c.*386C>A | ENSP00000506135.1:n.*386C>A | |
| ENST00000679706.1:c.341C>A | ||
| ENST00000679850.1:n.5725C>A | ||
| ENST00000680162.1:c.1387C>A | ENSP00000506634.1:p.Leu463Met | |
| ENST00000680355.1:c.1180C>A | ENSP00000506257.1:p.Leu394Met | |
| ENST00000680557.1:c.604-13164C>A | ENSP00000505164.1:n.604-13164C>A | |
| ENST00000680701.1:n.489C>A | ||
| ENST00000680768.1:c.1414C>A | ENSP00000506359.1:p.Leu472Met | |
| ENST00000680961.1:c.*677C>A | ENSP00000506386.1:n.*677C>A | |
| ENST00000681026.1:c.376C>A | ENSP00000506689.1:p.Leu126Met | |
| ENST00000681153.1:c.1471C>A | ENSP00000505124.1:p.Leu491Met | |
| ENST00000343523.6:c.2527C>A | ENSP00000340057.3:p.Leu843Met | |
| ENST00000357033.8:c.10714C>A | ENSP00000354923.3:p.Leu3572Met | |
| ENST00000358062.6:c.3763C>A | ENSP00000350765.2:p.Leu1255Met | |
| ENST00000359836.5:c.3295C>A | ENSP00000352894.1:p.Leu1099Met | |
| ENST00000361471.8:c.1471C>A | ENSP00000354464.4:p.Leu491Met | |
| ENST00000378677.6:c.10702C>A | ENSP00000367948.2:p.Leu3568Met | |
| ENST00000378680.6:c.1180C>A | ENSP00000367951.2:p.Leu394Met | |
| ENST00000378702.8:c.1510C>A | ENSP00000367974.4:p.Leu504Met | |
| ENST00000378707.7:c.3334C>A | ENSP00000367979.3:p.Leu1112Met | |
| ENST00000378723.7:c.1510C>A | ENSP00000367997.3:p.Leu504Met | |
| ENST00000474231.5:c.3334C>A | ENSP00000417123.1:p.Leu1112Met | |
| ENST00000481143.2:n.114+22085C>A | ||
| ENST00000541735.5:c.3004C>A | ENSP00000444119.1:p.Leu1002Met | |
| ENST00000619831.4:c.10699C>A | ENSP00000479270.1:p.Leu3567Met | |
| ENST00000620040.4:c.10711C>A | ENSP00000478150.1:p.Leu3571Met | |
| NM_000109.3:c.10690C>A | NP_000100.2:p.Leu3564Met | |
| NM_004006.2:c.10714C>A , LRG_199t1:c.10714C>A | NP_003997.1:p.Leu3572Met | |
| NM_004009.3:c.10702C>A | NP_004000.1:p.Leu3568Met | |
| NM_004010.3:c.10345C>A | NP_004001.1:p.Leu3449Met | |
| NM_004011.3:c.6691C>A | NP_004002.2:p.Leu2231Met | |
| NM_004012.3:c.6682C>A | NP_004003.1:p.Leu2228Met | |
| NM_004013.2:c.3334C>A | NP_004004.1:p.Leu1112Met | |
| NM_004014.2:c.2527C>A | NP_004005.1:p.Leu843Met | |
| NM_004015.2:c.1510C>A | NP_004006.1:p.Leu504Met | |
| NM_004016.2:c.1510C>A | NP_004007.1:p.Leu504Met | |
| NM_004017.2:c.1471C>A | NP_004008.1:p.Leu491Met | |
| NM_004018.2:c.1471C>A | NP_004009.1:p.Leu491Met | |
| NM_004020.3:c.3004C>A | NP_004011.2:p.Leu1002Met | |
| NM_004021.2:c.3334C>A | NP_004012.1:p.Leu1112Met | |
| NM_004022.2:c.3295C>A | NP_004013.1:p.Leu1099Met | |
| NM_004023.2:c.3004C>A | NP_004014.1:p.Leu1002Met | |
| XM_006724468.2:c.10714C>A | XP_006724531.1:p.Leu3572Met | |
| XM_006724469.2:c.10690C>A | XP_006724532.1:p.Leu3564Met | |
| XM_006724470.2:c.10675C>A | XP_006724533.1:p.Leu3559Met | |
| XM_006724471.2:c.10609C>A | XP_006724534.1:p.Leu3537Met | |
| XM_006724472.2:c.10585C>A | XP_006724535.1:p.Leu3529Met | |
| XM_006724473.2:c.10576C>A | XP_006724536.1:p.Leu3526Met | |
| XM_006724474.2:c.10384C>A | XP_006724537.1:p.Leu3462Met | |
| XM_006724475.2:c.10384C>A | XP_006724538.1:p.Leu3462Met | |
| XM_011545467.1:c.10591C>A | XP_011543769.1:p.Leu3531Met | |
| XM_006724469.3:c.10690C>A | XP_006724532.1:p.Leu3564Met | |
| XM_006724470.3:c.10675C>A | XP_006724533.1:p.Leu3559Met | |
| XM_006724474.3:c.10384C>A | XP_006724537.1:p.Leu3462Met | |
| XM_017029328.1:c.10675C>A | XP_016884817.1:p.Leu3559Met | |
| XM_017029331.1:c.4888C>A | XP_016884820.1:p.Leu1630Met | |
| NM_000109.4:c.10690C>A | NP_000100.3:p.Leu3564Met | |
| NM_004006.3:c.10714C>A MANE Select | NP_003997.2:p.Leu3572Met | |
| NM_004011.4:c.6691C>A | NP_004002.3:p.Leu2231Met | |
| NM_004012.4:c.6682C>A | NP_004003.2:p.Leu2228Met | |
| NM_004015.3:c.1510C>A | NP_004006.1:p.Leu504Met | |
| NM_004016.3:c.1510C>A | NP_004007.1:p.Leu504Met | |
| NM_004017.3:c.1471C>A | NP_004008.1:p.Leu491Met | |
| NM_004018.3:c.1471C>A | NP_004009.1:p.Leu491Met | |
| NM_004021.3:c.3334C>A | NP_004012.2:p.Leu1112Met | |
| NM_004023.3:c.3004C>A | NP_004014.2:p.Leu1002Met | |
| NM_004013.3:c.3334C>A | NP_004004.2:p.Leu1112Met | |
| NM_004014.3:c.2527C>A | NP_004005.2:p.Leu843Met | |
| NM_004020.4:c.3004C>A | NP_004011.3:p.Leu1002Met | |
| NM_004022.3:c.3295C>A | NP_004013.2:p.Leu1099Met |