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_000003.12:g.77580052G>A , CM000665.2:g.77580052G>A | GRCh38 |
| NC_000003.11:g.77629203G>A , CM000665.1:g.77629203G>A | GRCh37 |
| NC_000003.10:g.77711893G>A | NCBI36 |
| NG_027734.1:g.1678359G>A | |
| NG_027734.2:g.1678359G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332191.13:c.2446G>A | ENSP00000327536.9:p.Val816Ile | |
| ENST00000471893.2:c.2494G>A | ENSP00000418190.2:p.Val832Ile | |
| ENST00000475334.2:c.2515G>A | ENSP00000418446.2:p.Val839Ile | |
| ENST00000490534.2:c.2434G>A | ENSP00000417471.2:p.Val812Ile | |
| ENST00000696574.1:c.2446G>A | ENSP00000512729.1:p.Val816Ile | |
| ENST00000696593.1:c.2446G>A MANE Select | ENSP00000512738.1:p.Val816Ile | |
| ENST00000696629.1:c.2494G>A | ENSP00000512766.1:p.Val832Ile | |
| ENST00000696630.1:c.2494G>A | ENSP00000512767.1:p.Val832Ile | |
| ENST00000696631.1:c.*741G>A | ENSP00000512768.1:n.*741G>A | |
| ENST00000705983.1:c.2434G>A | ENSP00000516193.1:p.Val812Ile | |
| ENST00000332191.12:c.2434G>A | ENSP00000327536.8:p.Val812Ile | |
| ENST00000461745.5:c.2434G>A | ENSP00000417164.1:p.Val812Ile | |
| ENST00000473767.5:c.*878G>A | ENSP00000418117.1:n.*878G>A | |
| ENST00000487694.7:c.2482G>A | ENSP00000417335.2:p.Val828Ile | |
| ENST00000602589.5:c.2494G>A | ENSP00000473268.1:p.Val832Ile | |
| ENST00000614793.4:c.2050G>A | ENSP00000480344.1:p.Val684Ile | |
| NM_001128929.3:c.2482G>A | NP_001122401.1:p.Val828Ile | |
| NM_001290039.1:c.2446G>A | NP_001276968.1:p.Val816Ile | |
| NM_001290040.1:c.2446G>A | NP_001276969.1:p.Val816Ile | |
| NM_001290065.1:c.655G>A | NP_001276994.1:p.Val219Ile | |
| NM_002942.4:c.2434G>A | NP_002933.1:p.Val812Ile | |
| XM_011533981.1:c.2515G>A | XP_011532283.1:p.Val839Ile | |
| XM_011533982.1:c.2515G>A | XP_011532284.1:p.Val839Ile | |
| XM_011533983.1:c.2515G>A | XP_011532285.1:p.Val839Ile | |
| XM_011533984.1:c.2515G>A | XP_011532286.1:p.Val839Ile | |
| XM_011533985.1:c.2515G>A | XP_011532287.1:p.Val839Ile | |
| XM_011533981.2:c.2515G>A | XP_011532283.1:p.Val839Ile | |
| XM_017006986.1:c.2446G>A | XP_016862475.1:p.Val816Ile | |
| XM_017006987.1:c.2515G>A | XP_016862476.1:p.Val839Ile | |
| XM_017006988.1:c.2515G>A | XP_016862477.1:p.Val839Ile | |
| XM_017006989.1:c.2503G>A | XP_016862478.1:p.Val835Ile | |
| XM_017006990.1:c.2494G>A | XP_016862479.1:p.Val832Ile | |
| XM_017006991.1:c.2515G>A | XP_016862480.1:p.Val839Ile | |
| XM_017006992.1:c.2494G>A | XP_016862481.1:p.Val832Ile | |
| XM_017006993.1:c.2434G>A | XP_016862482.1:p.Val812Ile | |
| XM_017006994.1:c.2515G>A | XP_016862483.1:p.Val839Ile | |
| XM_017006995.1:c.2515G>A | XP_016862484.1:p.Val839Ile | |
| XM_017006996.1:c.2494G>A | XP_016862485.1:p.Val832Ile | |
| XM_017006997.1:c.2494G>A | XP_016862486.1:p.Val832Ile | |
| XM_017006998.1:c.2446G>A | XP_016862487.1:p.Val816Ile | |
| XM_017006999.1:c.2446G>A | XP_016862488.1:p.Val816Ile | |
| XM_017007000.1:c.2434G>A | XP_016862489.1:p.Val812Ile | |
| XM_017007001.1:c.2515G>A | XP_016862490.1:p.Val839Ile | |
| XM_017007002.1:c.2515G>A | XP_016862491.1:p.Val839Ile | |
| XM_017007003.1:c.2503G>A | XP_016862492.1:p.Val835Ile | |
| XM_017007004.1:c.2494G>A | XP_016862493.1:p.Val832Ile | |
| XM_017007005.1:c.2494G>A | XP_016862494.1:p.Val832Ile | |
| XM_017007006.1:c.2446G>A | XP_016862495.1:p.Val816Ile | |
| NM_001290039.2:c.2446G>A | NP_001276968.1:p.Val816Ile | |
| NM_001290040.2:c.2446G>A | NP_001276969.1:p.Val816Ile | |
| NM_001290065.2:c.655G>A | NP_001276994.1:p.Val219Ile | |
| NM_002942.5:c.2434G>A | NP_002933.1:p.Val812Ile | |
| NM_001378190.1:c.2494G>A | NP_001365119.1:p.Val832Ile | |
| NM_001378191.1:c.2494G>A | NP_001365120.1:p.Val832Ile | |
| NM_001378192.1:c.2515G>A | NP_001365121.1:p.Val839Ile | |
| NM_001378193.1:c.2434G>A | NP_001365122.1:p.Val812Ile | |
| NM_001378194.1:c.2515G>A | NP_001365123.1:p.Val839Ile | |
| NM_001378195.1:c.2494G>A | NP_001365124.1:p.Val832Ile | |
| NM_001378196.1:c.2494G>A | NP_001365125.1:p.Val832Ile | |
| NM_001378197.1:c.2434G>A | NP_001365126.1:p.Val812Ile | |
| NM_001378198.1:c.2515G>A | NP_001365127.1:p.Val839Ile | |
| NM_001378199.1:c.2515G>A | NP_001365128.1:p.Val839Ile | |
| NM_001378200.1:c.2494G>A | NP_001365129.1:p.Val832Ile | |
| NM_001378201.1:c.2494G>A | NP_001365130.1:p.Val832Ile | |
| NM_001378202.1:c.2446G>A | NP_001365131.1:p.Val816Ile | |
| NM_001378203.1:c.2494G>A | NP_001365132.1:p.Val832Ile | |
| NM_001394212.1:c.2503G>A | NP_001381141.1:p.Val835Ile | |
| NM_001394213.1:c.2515G>A | NP_001381142.1:p.Val839Ile | |
| NM_001394214.1:c.2503G>A | NP_001381143.1:p.Val835Ile | |
| NM_001395656.1:c.2446G>A MANE Select | NP_001382585.1:p.Val816Ile | |
| NM_001395657.1:c.2503G>A | NP_001382586.1:p.Val835Ile |