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.121498470G>A , CM000672.2:g.121498470G>A | GRCh38 |
| NC_000010.10:g.123257984G>A , CM000672.1:g.123257984G>A | GRCh37 |
| NC_000010.9:g.123247974G>A | NCBI36 |
| NG_012449.1:g.104989C>T | |
| NG_012449.2:g.104989C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457416.7:c.1675+25C>T MANE Plus Clinical | ENSP00000410294.2:n.1675+25C>T | |
| ENST00000351936.11:c.1666+25C>T | ENSP00000309878.10:n.1666+25C>T | |
| ENST00000638709.2:c.496+25C>T | ENSP00000491912.2:n.496+25C>T | |
| ENST00000682296.1:n.1014+25C>T | ||
| ENST00000682550.1:c.1321+25C>T | ENSP00000507633.1:n.1321+25C>T | |
| ENST00000682772.1:c.496+25C>T | ENSP00000506848.1:n.496+25C>T | |
| ENST00000682904.1:n.492+25C>T | ||
| ENST00000683211.1:c.1666+25C>T | ENSP00000508257.1:n.1666+25C>T | |
| ENST00000683250.1:c.*374+25C>T | ENSP00000506847.1:n.*374+25C>T | |
| ENST00000683418.1:n.4013+25C>T | ||
| ENST00000684153.1:c.1321+25C>T | ENSP00000506937.1:n.1321+25C>T | |
| ENST00000684516.1:n.2685+25C>T | ||
| ENST00000358487.10:c.1672+25C>T MANE Select | ENSP00000351276.6:n.1672+25C>T | |
| ENST00000336553.10:c.1399+25C>T | ENSP00000337665.6:n.1399+25C>T | |
| ENST00000346997.6:c.1666+25C>T | ENSP00000263451.5:n.1666+25C>T | |
| ENST00000351936.10:c.1672+25C>T | ENSP00000309878.9:n.1672+25C>T | |
| ENST00000356226.8:c.1321+25C>T | ENSP00000348559.4:n.1321+25C>T | |
| ENST00000357555.9:c.1405+25C>T | ENSP00000350166.5:n.1405+25C>T | |
| ENST00000358487.9:c.1672+25C>T | ENSP00000351276.5:n.1672+25C>T | |
| ENST00000360144.7:c.1408+25C>T | ENSP00000353262.3:n.1408+25C>T | |
| ENST00000369056.5:c.1675+25C>T | ENSP00000358052.1:n.1675+25C>T | |
| ENST00000369058.7:c.1675+25C>T | ENSP00000358054.3:n.1675+25C>T | |
| ENST00000369059.5:c.1330+25C>T | ENSP00000358055.1:n.1330+25C>T | |
| ENST00000369060.8:c.1324+25C>T | ENSP00000358056.4:n.1324+25C>T | |
| ENST00000369061.8:c.1336+25C>T | ENSP00000358057.4:n.1336+25C>T | |
| ENST00000429361.5:c.448+25C>T | ENSP00000404219.1:n.448+25C>T | |
| ENST00000457416.6:c.1675+25C>T | ENSP00000410294.2:n.1675+25C>T | |
| ENST00000478859.5:c.988+25C>T | ENSP00000474011.1:n.988+25C>T | |
| ENST00000604236.5:c.*719+25C>T | ENSP00000474109.1:n.*719+25C>T | |
| ENST00000613048.4:c.1405+25C>T | ENSP00000484154.1:n.1405+25C>T | |
| NM_000141.4:c.1672+25C>T | NP_000132.3:n.1672+25C>T | |
| NM_001144913.1:c.1675+25C>T | NP_001138385.1:n.1675+25C>T | |
| NM_001144914.1:c.1336+25C>T | NP_001138386.1:n.1336+25C>T | |
| NM_001144915.1:c.1405+25C>T | NP_001138387.1:n.1405+25C>T | |
| NM_001144916.1:c.1327+25C>T | NP_001138388.1:n.1327+25C>T | |
| NM_001144917.1:c.1324+25C>T | NP_001138389.1:n.1324+25C>T | |
| NM_001144918.1:c.1321+25C>T | NP_001138390.1:n.1321+25C>T | |
| NM_001144919.1:c.1408+25C>T | NP_001138391.1:n.1408+25C>T | |
| NM_022970.3:c.1675+25C>T | NP_075259.4:n.1675+25C>T | |
| NM_023029.2:c.1405+25C>T | NP_075418.1:n.1405+25C>T | |
| NR_073009.1:n.2122+25C>T | ||
| XM_006717708.2:c.1726+25C>T | XP_006717771.1:n.1726+25C>T | |
| XM_006717709.2:c.1723+25C>T | XP_006717772.1:n.1723+25C>T | |
| XM_006717710.2:c.1732+25C>T | XP_006717773.1:n.1732+25C>T | |
| XM_006717711.2:c.1465+25C>T | XP_006717774.1:n.1465+25C>T | |
| XM_006717712.2:c.1387+25C>T | XP_006717775.1:n.1387+25C>T | |
| XM_006717713.2:c.1729+25C>T | XP_006717776.1:n.1729+25C>T | |
| XM_011539510.1:c.988+25C>T | XP_011537812.1:n.988+25C>T | |
| NM_001320654.1:c.988+25C>T | NP_001307583.1:n.988+25C>T | |
| NM_001320658.1:c.1666+25C>T | NP_001307587.1:n.1666+25C>T | |
| XM_006717708.3:c.1726+25C>T | XP_006717771.1:n.1726+25C>T | |
| XM_006717710.4:c.1732+25C>T | XP_006717773.1:n.1732+25C>T | |
| XM_017015920.2:c.1726+25C>T | XP_016871409.1:n.1726+25C>T | |
| XM_017015921.2:c.1723+25C>T | XP_016871410.1:n.1723+25C>T | |
| XM_017015924.2:c.1384+25C>T | XP_016871413.1:n.1384+25C>T | |
| XM_017015925.2:c.1378+25C>T | XP_016871414.1:n.1378+25C>T | |
| XM_024447887.1:c.1462+25C>T | XP_024303655.1:n.1462+25C>T | |
| XM_024447888.1:c.1459+25C>T | XP_024303656.1:n.1459+25C>T | |
| XM_024447889.1:c.1456+25C>T | XP_024303657.1:n.1456+25C>T | |
| XM_024447890.1:c.1465+25C>T | XP_024303658.1:n.1465+25C>T | |
| XM_024447891.1:c.1387+25C>T | XP_024303659.1:n.1387+25C>T | |
| XM_024447892.1:c.502+25C>T | XP_024303660.1:n.502+25C>T | |
| NM_000141.5:c.1672+25C>T MANE Select | NP_000132.3:n.1672+25C>T | |
| NM_001144917.2:c.1324+25C>T | NP_001138389.1:n.1324+25C>T | |
| NM_001144918.2:c.1321+25C>T | NP_001138390.1:n.1321+25C>T | |
| NM_001144919.2:c.1408+25C>T | NP_001138391.1:n.1408+25C>T | |
| NM_001320658.2:c.1666+25C>T | NP_001307587.1:n.1666+25C>T | |
| NR_073009.2:n.2108+25C>T | ||
| NM_001144915.2:c.1405+25C>T | NP_001138387.1:n.1405+25C>T | |
| NM_001144916.2:c.1327+25C>T | NP_001138388.1:n.1327+25C>T | |
| NM_001320654.2:c.988+25C>T | NP_001307583.1:n.988+25C>T |