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
gnomAD v4:
1-7752517-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7752517C>A , CM000663.2:g.7752517C>A | GRCh38 |
| NC_000001.10:g.7812577C>A , CM000663.1:g.7812577C>A | GRCh37 |
| NC_000001.9:g.7735164C>A | NCBI36 |
| NG_053148.1:g.972194C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710284.1:c.1696C>A | ENSP00000518174.1:p.Arg566Ser | |
| ENST00000710285.1:c.2035C>A | ENSP00000518175.1:p.Arg679Ser | |
| ENST00000476864.2:c.4603C>A | ENSP00000452319.2:p.Arg1535Ser | |
| ENST00000495233.6:c.2264C>A | ||
| ENST00000700414.1:c.*4475C>A | ENSP00000514978.1:n.*4475C>A | |
| ENST00000700415.1:c.4534C>A | ENSP00000514979.1:p.Arg1512Ser | |
| ENST00000700417.1:c.4531C>A | ENSP00000514981.1:p.Arg1511Ser | |
| ENST00000700419.1:c.2788C>A | ENSP00000514983.1:p.Arg930Ser | |
| ENST00000700420.1:c.1993C>A | ENSP00000514994.1:p.Arg665Ser | |
| ENST00000700421.1:c.2014C>A | ENSP00000514995.1:p.Arg672Ser | |
| ENST00000700422.1:n.1116C>A | ||
| ENST00000700423.1:c.1696C>A | ENSP00000514996.1:p.Arg566Ser | |
| ENST00000700424.1:c.1696C>A | ENSP00000514997.1:p.Arg566Ser | |
| ENST00000700425.1:c.1654C>A | ENSP00000514998.1:p.Arg552Ser | |
| ENST00000700445.1:c.2288C>A | ||
| ENST00000700446.1:n.3338C>A | ||
| ENST00000700447.1:n.2622C>A | ||
| ENST00000700448.1:c.626C>A | ||
| ENST00000700449.1:c.146C>A | ||
| ENST00000303635.12:c.4942C>A MANE Select | ENSP00000306522.6:p.Arg1648Ser | |
| ENST00000303635.11:c.4942C>A | ENSP00000306522.6:p.Arg1648Ser | |
| ENST00000476864.1:c.634C>A | ENSP00000452319.1:p.Arg212Ser | |
| ENST00000490905.5:c.639C>A | ||
| ENST00000495233.5:c.1833C>A | ||
| NM_015215.3:c.4942C>A | NP_056030.1:p.Arg1648Ser | |
| XM_011541083.1:c.4963C>A | XP_011539385.1:p.Arg1655Ser | |
| XM_011541084.1:c.4963C>A | XP_011539386.1:p.Arg1655Ser | |
| XM_011541085.1:c.4951C>A | XP_011539387.1:p.Arg1651Ser | |
| XM_011541086.1:c.4942C>A | XP_011539388.1:p.Arg1648Ser | |
| XM_011541087.1:c.4891C>A | XP_011539389.1:p.Arg1631Ser | |
| XM_011541088.1:c.4873C>A | XP_011539390.1:p.Arg1625Ser | |
| XM_011541089.1:c.4624C>A | XP_011539391.1:p.Arg1542Ser | |
| XM_011541090.1:c.4624C>A | XP_011539392.1:p.Arg1542Ser | |
| NM_001349608.1:c.4852C>A | NP_001336537.1:p.Arg1618Ser | |
| NM_001349609.1:c.4624C>A | NP_001336538.1:p.Arg1542Ser | |
| NM_001349610.1:c.4618C>A | NP_001336539.1:p.Arg1540Ser | |
| NM_001349612.1:c.4534C>A | NP_001336541.1:p.Arg1512Ser | |
| NM_001349613.1:c.2071C>A | NP_001336542.1:p.Arg691Ser | |
| NM_001349614.1:c.2035C>A | NP_001336543.1:p.Arg679Ser | |
| NM_001349615.1:c.2035C>A | NP_001336544.1:p.Arg679Ser | |
| NM_001349616.1:c.2035C>A | NP_001336545.1:p.Arg679Ser | |
| NM_001349617.1:c.2014C>A | NP_001336546.1:p.Arg672Ser | |
| NM_001349618.1:c.2014C>A | NP_001336547.1:p.Arg672Ser | |
| NM_001349619.1:c.1696C>A | NP_001336548.1:p.Arg566Ser | |
| NM_001349620.1:c.1696C>A | NP_001336549.1:p.Arg566Ser | |
| NM_001349621.1:c.1696C>A | NP_001336550.1:p.Arg566Ser | |
| NM_001349622.1:c.1696C>A | NP_001336551.1:p.Arg566Ser | |
| NM_001349623.1:c.1675C>A | NP_001336552.1:p.Arg559Ser | |
| NM_001349624.2:c.1675C>A | NP_001336553.1:p.Arg559Ser | |
| NM_001349625.1:c.1675C>A | NP_001336554.1:p.Arg559Ser | |
| NM_001349626.1:c.1675C>A | NP_001336555.1:p.Arg559Ser | |
| XM_011541083.2:c.4963C>A | XP_011539385.1:p.Arg1655Ser | |
| XM_011541084.2:c.4963C>A | XP_011539386.1:p.Arg1655Ser | |
| XM_011541086.3:c.4942C>A | XP_011539388.1:p.Arg1648Ser | |
| XM_011541087.2:c.4891C>A | XP_011539389.1:p.Arg1631Ser | |
| XM_011541088.2:c.4873C>A | XP_011539390.1:p.Arg1625Ser | |
| XM_011541090.3:c.4624C>A | XP_011539392.1:p.Arg1542Ser | |
| XM_017000774.2:c.4963C>A | XP_016856263.1:p.Arg1655Ser | |
| XM_017000777.1:c.4603C>A | XP_016856266.1:p.Arg1535Ser | |
| XM_017000778.1:c.4603C>A | XP_016856267.1:p.Arg1535Ser | |
| XM_024454329.1:c.2224C>A | XP_024310097.1:p.Arg742Ser | |
| XM_024454330.1:c.2203C>A | XP_024310098.1:p.Arg735Ser | |
| XM_024454331.1:c.2035C>A | XP_024310099.1:p.Arg679Ser | |
| XM_024454332.1:c.2035C>A | XP_024310100.1:p.Arg679Ser | |
| XM_024454333.1:c.2035C>A | XP_024310101.1:p.Arg679Ser | |
| XM_024454334.1:c.2035C>A | XP_024310102.1:p.Arg679Ser | |
| XM_024454335.1:c.2035C>A | XP_024310103.1:p.Arg679Ser | |
| XM_024454338.1:c.1696C>A | XP_024310106.1:p.Arg566Ser | |
| NM_015215.4:c.4942C>A MANE Select | NP_056030.1:p.Arg1648Ser | |
| NM_001349608.2:c.4852C>A | NP_001336537.1:p.Arg1618Ser | |
| NM_001349609.2:c.4624C>A | NP_001336538.1:p.Arg1542Ser | |
| NM_001349610.2:c.4618C>A | NP_001336539.1:p.Arg1540Ser | |
| NM_001349612.2:c.4534C>A | NP_001336541.1:p.Arg1512Ser | |
| NM_001349615.2:c.2035C>A | NP_001336544.1:p.Arg679Ser | |
| NM_001349616.2:c.2035C>A | NP_001336545.1:p.Arg679Ser | |
| NM_001349618.2:c.2014C>A | NP_001336547.1:p.Arg672Ser | |
| NM_001349619.2:c.1696C>A | NP_001336548.1:p.Arg566Ser | |
| NM_001349622.2:c.1696C>A | NP_001336551.1:p.Arg566Ser | |
| NM_001349624.3:c.1675C>A | NP_001336553.1:p.Arg559Ser | |
| NM_001349626.2:c.1675C>A | NP_001336555.1:p.Arg559Ser | |
| NM_001349625.2:c.1675C>A | NP_001336554.1:p.Arg559Ser |