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_000023.11:g.111196641G= , CM000685.2:g.111196641G= | GRCh38 |
| NC_000023.10:g.110439869G= , CM000685.1:g.110439869G= | GRCh37 |
| NC_000023.9:g.110326525G= | NCBI36 |
| NG_008288.1:g.257357G= | |
| NG_008288.2:g.257357G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000518291.6:c.1515+1G= | ENSP00000428921.1:n.1515+1G= | |
| ENST00000372007.10:c.1407+1G= MANE Select | ENSP00000361077.4:n.1407+1G= | |
| ENST00000262836.6:c.1452+1G= | ENSP00000262836.4:n.1452+1G= | |
| ENST00000360648.8:c.1515+1G= | ENSP00000353864.4:n.1515+1G= | |
| ENST00000372007.9:c.1407+1G= | ENSP00000361077.4:n.1407+1G= | |
| ENST00000372010.5:c.1452+1G= | ENSP00000361080.1:n.1452+1G= | |
| ENST00000417227.5:c.1470+1G= | ENSP00000389172.1:n.1470+1G= | |
| ENST00000425146.5:c.1407+1G= | ENSP00000401982.1:n.1407+1G= | |
| ENST00000446737.5:c.1407+1G= | ENSP00000410853.1:n.1407+1G= | |
| ENST00000518291.5:c.1515+1G= | ENSP00000428921.1:n.1515+1G= | |
| ENST00000519681.5:c.1470+1G= | ENSP00000429113.1:n.1470+1G= | |
| ENST00000620137.3:c.1404+1G= | ENSP00000484798.1:n.1404+1G= | |
| NM_001128166.1:c.1407+1G= | NP_001121638.1:n.1407+1G= | |
| NM_001128167.1:c.1407+1G= | NP_001121639.1:n.1407+1G= | |
| NM_001128168.1:c.1515+1G= | NP_001121640.1:n.1515+1G= | |
| NM_001128172.1:c.1470+1G= | NP_001121644.1:n.1470+1G= | |
| NM_001128173.1:c.1452+1G= | NP_001121645.1:n.1452+1G= | |
| NM_002578.3:c.1407+1G= | NP_002569.1:n.1407+1G= | |
| XM_005262132.2:c.1452+1G= | XP_005262189.1:n.1452+1G= | |
| XM_005262133.3:c.1407+1G= | XP_005262190.1:n.1407+1G= | |
| XM_006724654.2:c.1452+1G= | XP_006724717.1:n.1452+1G= | |
| XM_006724655.2:c.1452+1G= | XP_006724718.1:n.1452+1G= | |
| XM_006724656.2:c.1452+1G= | XP_006724719.1:n.1452+1G= | |
| XM_011530962.1:c.1452+1G= | XP_011529264.1:n.1452+1G= | |
| XM_011530963.1:c.1452+1G= | XP_011529265.1:n.1452+1G= | |
| XM_011530964.1:c.1452+1G= | XP_011529266.1:n.1452+1G= | |
| XM_011530965.1:c.1452+1G= | XP_011529267.1:n.1452+1G= | |
| XM_011530966.1:c.1452+1G= | XP_011529268.1:n.1452+1G= | |
| XM_011530967.1:c.1452+1G= | XP_011529269.1:n.1452+1G= | |
| XM_011530968.1:c.1452+1G= | XP_011529270.1:n.1452+1G= | |
| XM_011530969.1:c.1452+1G= | XP_011529271.1:n.1452+1G= | |
| XM_011530970.1:c.1407+1G= | XP_011529272.1:n.1407+1G= | |
| XR_244474.2:n.2073+1G= | ||
| NM_001128166.2:c.1407+1G= | NP_001121638.1:n.1407+1G= | |
| NM_001128167.2:c.1407+1G= | NP_001121639.1:n.1407+1G= | |
| NM_001128168.2:c.1515+1G= | NP_001121640.1:n.1515+1G= | |
| NM_001128172.2:c.1470+1G= | NP_001121644.1:n.1470+1G= | |
| NM_001128173.2:c.1452+1G= | NP_001121645.1:n.1452+1G= | |
| NM_001324325.1:c.1407+1G= | NP_001311254.1:n.1407+1G= | |
| NM_001324326.1:c.1407+1G= | NP_001311255.1:n.1407+1G= | |
| NM_001324327.1:c.1452+1G= | NP_001311256.1:n.1452+1G= | |
| NM_001324328.1:c.1452+1G= | NP_001311257.1:n.1452+1G= | |
| NM_001324329.1:c.1452+1G= | NP_001311258.1:n.1452+1G= | |
| NM_001324330.1:c.1407+1G= | NP_001311259.1:n.1407+1G= | |
| NM_001324331.1:c.1407+1G= | NP_001311260.1:n.1407+1G= | |
| NM_001324332.1:c.1407+1G= | NP_001311261.1:n.1407+1G= | |
| NM_001324333.1:c.1452+1G= | NP_001311262.1:n.1452+1G= | |
| NM_001324334.1:c.1407+1G= | NP_001311263.1:n.1407+1G= | |
| NM_002578.4:c.1407+1G= | NP_002569.1:n.1407+1G= | |
| NR_136747.1:n.1885+1G= | ||
| NR_136748.1:n.1582+1G= | ||
| XM_011530967.2:c.1452+1G= | XP_011529269.1:n.1452+1G= | |
| XM_011530968.2:c.1452+1G= | XP_011529270.1:n.1452+1G= | |
| XM_017029557.1:c.1452+1G= | XP_016885046.1:n.1452+1G= | |
| XM_017029558.1:c.1407+1G= | XP_016885047.1:n.1407+1G= | |
| XM_017029559.1:c.1407+1G= | XP_016885048.1:n.1407+1G= | |
| XM_017029560.1:c.1407+1G= | XP_016885049.1:n.1407+1G= | |
| XM_017029561.2:c.1407+1G= | XP_016885050.1:n.1407+1G= | |
| XM_017029562.1:c.1452+1G= | XP_016885051.1:n.1452+1G= | |
| XM_017029563.1:c.1515+1G= | XP_016885052.1:n.1515+1G= | |
| NM_002578.5:c.1407+1G= MANE Select | NP_002569.1:n.1407+1G= | |
| NM_001128168.3:c.1515+1G= | NP_001121640.1:n.1515+1G= | |
| NM_001128173.3:c.1452+1G= | NP_001121645.1:n.1452+1G= | |
| NM_001324325.2:c.1407+1G= | NP_001311254.1:n.1407+1G= | |
| NM_001324326.2:c.1407+1G= | NP_001311255.1:n.1407+1G= | |
| NM_001324327.2:c.1452+1G= | NP_001311256.1:n.1452+1G= | |
| NM_001324328.2:c.1452+1G= | NP_001311257.1:n.1452+1G= | |
| NM_001324329.2:c.1452+1G= | NP_001311258.1:n.1452+1G= | |
| NM_001324330.2:c.1407+1G= | NP_001311259.1:n.1407+1G= | |
| NM_001324331.2:c.1407+1G= | NP_001311260.1:n.1407+1G= | |
| NM_001324332.2:c.1407+1G= | NP_001311261.1:n.1407+1G= | |
| NM_001324333.2:c.1452+1G= | NP_001311262.1:n.1452+1G= | |
| NM_001324334.2:c.1407+1G= | NP_001311263.1:n.1407+1G= | |
| NR_136747.2:n.1836+1G= | ||
| NM_001128166.3:c.1407+1G= | NP_001121638.1:n.1407+1G= | |
| NM_001128167.3:c.1407+1G= | NP_001121639.1:n.1407+1G= |