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_000007.14:g.74060184C>T , CM000669.2:g.74060184C>T | GRCh38 |
| NC_000007.13:g.73474514C>T , CM000669.1:g.73474514C>T | GRCh37 |
| NC_000007.12:g.73112450C>T | NCBI36 |
| NG_009261.1:g.37088C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000692049.1:c.1708C>T (ELN) | ENSP00000510104.1:p.Arg570Ter | |
| ENST00000252034.12:c.1621C>T (ELN) MANE Select | ENSP00000252034.7:p.Arg541Ter | |
| ENST00000252034.11:c.1621C>T (ELN) | ENSP00000252034.7:p.Arg541Ter | |
| ENST00000320399.10:c.1621C>T (ELN) | ENSP00000313565.6:p.Arg541Ter | |
| ENST00000320492.11:c.1378C>T (ELN) | ENSP00000315607.7:p.Arg460Ter | |
| ENST00000357036.9:c.1636C>T (ELN) | ENSP00000349540.5:p.Arg546Ter | |
| ENST00000358929.8:c.1708C>T (ELN) | ENSP00000351807.5:p.Arg570Ter | |
| ENST00000380553.8:c.1213C>T (ELN) | ENSP00000369926.4:p.Arg405Ter | |
| ENST00000380562.8:c.1639C>T (ELN) | ENSP00000369936.4:p.Arg547Ter | |
| ENST00000380575.8:c.1534C>T (ELN) | ENSP00000369949.4:p.Arg512Ter | |
| ENST00000380576.9:c.1564C>T (ELN) | ENSP00000369950.5:p.Arg522Ter | |
| ENST00000380584.8:c.1477+137C>T (ELN) | ENSP00000369958.4:n.1477+137C>T | |
| ENST00000414324.5:c.1549C>T (ELN) | ENSP00000392575.1:p.Arg517Ter | |
| ENST00000429192.5:c.1579C>T (ELN) | ENSP00000391129.1:p.Arg527Ter | |
| ENST00000445912.5:c.1621C>T (ELN) | ENSP00000389857.1:p.Arg541Ter | |
| ENST00000458204.5:c.1591C>T (ELN) | ENSP00000403162.1:p.Arg531Ter | |
| ENST00000621115.4:c.1354C>T (ELN) | ENSP00000480955.1:p.Arg452Ter | |
| NM_000501.3:c.1621C>T (ELN) | NP_000492.2:p.Arg541Ter | |
| NM_001081752.2:c.1534C>T (ELN) | NP_001075221.1:p.Arg512Ter | |
| NM_001081753.2:c.1579C>T (ELN) | NP_001075222.1:p.Arg527Ter | |
| NM_001081754.2:c.1636C>T (ELN) | NP_001075223.1:p.Arg546Ter | |
| NM_001081755.2:c.1564C>T (ELN) | NP_001075224.1:p.Arg522Ter | |
| NM_001278912.1:c.1621C>T (ELN) | NP_001265841.1:p.Arg541Ter | |
| NM_001278913.1:c.1378C>T (ELN) | NP_001265842.1:p.Arg460Ter | |
| NM_001278914.1:c.1549C>T (ELN) | NP_001265843.1:p.Arg517Ter | |
| NM_001278915.1:c.1639C>T (ELN) | NP_001265844.1:p.Arg547Ter | |
| NM_001278916.1:c.1477+137C>T (ELN) | NP_001265845.1:n.1477+137C>T | |
| NM_001278917.1:c.1591C>T (ELN) | NP_001265846.1:p.Arg531Ter | |
| NM_001278918.1:c.1354C>T (ELN) | NP_001265847.1:p.Arg452Ter | |
| NM_001278939.1:c.1708C>T (ELN) | NP_001265868.1:p.Arg570Ter | |
| XM_005250187.1:c.1585C>T (ELN) | XP_005250244.1:p.Arg529Ter | |
| XM_005250188.1:c.1579C>T (ELN) | XP_005250245.1:p.Arg527Ter | |
| XM_011515868.1:c.1636C>T (ELN) | XP_011514170.1:p.Arg546Ter | |
| XM_011515869.1:c.1606C>T (ELN) | XP_011514171.1:p.Arg536Ter | |
| XM_011515870.1:c.1600C>T (ELN) | XP_011514172.1:p.Arg534Ter | |
| XM_011515871.1:c.1594C>T (ELN) | XP_011514173.1:p.Arg532Ter | |
| XM_011515872.1:c.1582C>T (ELN) | XP_011514174.1:p.Arg528Ter | |
| XM_011515873.1:c.1579C>T (ELN) | XP_011514175.1:p.Arg527Ter | |
| XM_011515874.1:c.1570C>T (ELN) | XP_011514176.1:p.Arg524Ter | |
| XM_011515875.1:c.1555C>T (ELN) | XP_011514177.1:p.Arg519Ter | |
| XM_011515876.1:c.1636C>T (ELN) | XP_011514178.1:p.Arg546Ter | |
| XM_011515877.1:c.1525C>T (ELN) | XP_011514179.1:p.Arg509Ter | |
| XM_005250187.2:c.1585C>T (ELN) | XP_005250244.1:p.Arg529Ter | |
| XM_005250188.2:c.1579C>T (ELN) | XP_005250245.1:p.Arg527Ter | |
| XM_011515868.2:c.1636C>T (ELN) | XP_011514170.1:p.Arg546Ter | |
| XM_011515871.2:c.1594C>T (ELN) | XP_011514173.1:p.Arg532Ter | |
| XM_011515872.2:c.1582C>T (ELN) | XP_011514174.1:p.Arg528Ter | |
| XM_011515873.2:c.1579C>T (ELN) | XP_011514175.1:p.Arg527Ter | |
| XM_011515875.2:c.1555C>T (ELN) | XP_011514177.1:p.Arg519Ter | |
| XM_011515876.2:c.1636C>T (ELN) | XP_011514178.1:p.Arg546Ter | |
| XM_011515877.2:c.1525C>T (ELN) | XP_011514179.1:p.Arg509Ter | |
| XM_017011813.1:c.1549C>T (ELN) | XP_016867302.1:p.Arg517Ter | |
| XM_017011814.2:c.1537C>T (ELN) | XP_016867303.1:p.Arg513Ter | |
| XR_001745243.1:n.76-152G>A (ELN-AS1) | ||
| NM_000501.4:c.1621C>T (ELN) MANE Select | NP_000492.2:p.Arg541Ter | |
| NM_001081752.3:c.1534C>T (ELN) | NP_001075221.1:p.Arg512Ter | |
| NM_001081753.3:c.1579C>T (ELN) | NP_001075222.1:p.Arg527Ter | |
| NM_001081754.3:c.1636C>T (ELN) | NP_001075223.1:p.Arg546Ter | |
| NM_001081755.3:c.1564C>T (ELN) | NP_001075224.1:p.Arg522Ter | |
| NM_001278912.2:c.1621C>T (ELN) | NP_001265841.1:p.Arg541Ter | |
| NM_001278913.2:c.1378C>T (ELN) | NP_001265842.1:p.Arg460Ter | |
| NM_001278914.2:c.1549C>T (ELN) | NP_001265843.1:p.Arg517Ter | |
| NM_001278915.2:c.1639C>T (ELN) | NP_001265844.1:p.Arg547Ter | |
| NM_001278916.2:c.1477+137C>T (ELN) | NP_001265845.1:n.1477+137C>T | |
| NM_001278917.2:c.1591C>T (ELN) | NP_001265846.1:p.Arg531Ter | |
| NM_001278918.2:c.1354C>T (ELN) | NP_001265847.1:p.Arg452Ter | |
| NM_001278939.2:c.1708C>T (ELN) | NP_001265868.1:p.Arg570Ter |