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_000001.11:g.7752516T>A , CM000663.2:g.7752516T>A | GRCh38 |
| NC_000001.10:g.7812576T>A , CM000663.1:g.7812576T>A | GRCh37 |
| NC_000001.9:g.7735163T>A | NCBI36 |
| NG_053148.1:g.972193T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710284.1:c.1695T>A | ENSP00000518174.1:p.Leu565= | |
| ENST00000710285.1:c.2034T>A | ENSP00000518175.1:p.Leu678= | |
| ENST00000476864.2:c.4602T>A | ENSP00000452319.2:p.Leu1534= | |
| ENST00000495233.6:c.2263T>A | ||
| ENST00000700414.1:c.*4474T>A | ENSP00000514978.1:n.*4474T>A | |
| ENST00000700415.1:c.4533T>A | ENSP00000514979.1:p.Leu1511= | |
| ENST00000700417.1:c.4530T>A | ENSP00000514981.1:p.Leu1510= | |
| ENST00000700419.1:c.2787T>A | ENSP00000514983.1:p.Leu929= | |
| ENST00000700420.1:c.1992T>A | ENSP00000514994.1:p.Leu664= | |
| ENST00000700421.1:c.2013T>A | ENSP00000514995.1:p.Leu671= | |
| ENST00000700422.1:n.1115T>A | ||
| ENST00000700423.1:c.1695T>A | ENSP00000514996.1:p.Leu565= | |
| ENST00000700424.1:c.1695T>A | ENSP00000514997.1:p.Leu565= | |
| ENST00000700425.1:c.1653T>A | ENSP00000514998.1:p.Leu551= | |
| ENST00000700445.1:c.2287T>A | ||
| ENST00000700446.1:n.3337T>A | ||
| ENST00000700447.1:n.2621T>A | ||
| ENST00000700448.1:c.625T>A | ||
| ENST00000700449.1:c.145T>A | ||
| ENST00000303635.12:c.4941T>A MANE Select | ENSP00000306522.6:p.Leu1647= | |
| ENST00000303635.11:c.4941T>A | ENSP00000306522.6:p.Leu1647= | |
| ENST00000476864.1:c.633T>A | ENSP00000452319.1:p.Leu211= | |
| ENST00000490905.5:c.638T>A | ||
| ENST00000495233.5:c.1832T>A | ||
| NM_015215.3:c.4941T>A | NP_056030.1:p.Leu1647= | |
| XM_011541083.1:c.4962T>A | XP_011539385.1:p.Leu1654= | |
| XM_011541084.1:c.4962T>A | XP_011539386.1:p.Leu1654= | |
| XM_011541085.1:c.4950T>A | XP_011539387.1:p.Leu1650= | |
| XM_011541086.1:c.4941T>A | XP_011539388.1:p.Leu1647= | |
| XM_011541087.1:c.4890T>A | XP_011539389.1:p.Leu1630= | |
| XM_011541088.1:c.4872T>A | XP_011539390.1:p.Leu1624= | |
| XM_011541089.1:c.4623T>A | XP_011539391.1:p.Leu1541= | |
| XM_011541090.1:c.4623T>A | XP_011539392.1:p.Leu1541= | |
| NM_001349608.1:c.4851T>A | NP_001336537.1:p.Leu1617= | |
| NM_001349609.1:c.4623T>A | NP_001336538.1:p.Leu1541= | |
| NM_001349610.1:c.4617T>A | NP_001336539.1:p.Leu1539= | |
| NM_001349612.1:c.4533T>A | NP_001336541.1:p.Leu1511= | |
| NM_001349613.1:c.2070T>A | NP_001336542.1:p.Leu690= | |
| NM_001349614.1:c.2034T>A | NP_001336543.1:p.Leu678= | |
| NM_001349615.1:c.2034T>A | NP_001336544.1:p.Leu678= | |
| NM_001349616.1:c.2034T>A | NP_001336545.1:p.Leu678= | |
| NM_001349617.1:c.2013T>A | NP_001336546.1:p.Leu671= | |
| NM_001349618.1:c.2013T>A | NP_001336547.1:p.Leu671= | |
| NM_001349619.1:c.1695T>A | NP_001336548.1:p.Leu565= | |
| NM_001349620.1:c.1695T>A | NP_001336549.1:p.Leu565= | |
| NM_001349621.1:c.1695T>A | NP_001336550.1:p.Leu565= | |
| NM_001349622.1:c.1695T>A | NP_001336551.1:p.Leu565= | |
| NM_001349623.1:c.1674T>A | NP_001336552.1:p.Leu558= | |
| NM_001349624.2:c.1674T>A | NP_001336553.1:p.Leu558= | |
| NM_001349625.1:c.1674T>A | NP_001336554.1:p.Leu558= | |
| NM_001349626.1:c.1674T>A | NP_001336555.1:p.Leu558= | |
| XM_011541083.2:c.4962T>A | XP_011539385.1:p.Leu1654= | |
| XM_011541084.2:c.4962T>A | XP_011539386.1:p.Leu1654= | |
| XM_011541086.3:c.4941T>A | XP_011539388.1:p.Leu1647= | |
| XM_011541087.2:c.4890T>A | XP_011539389.1:p.Leu1630= | |
| XM_011541088.2:c.4872T>A | XP_011539390.1:p.Leu1624= | |
| XM_011541090.3:c.4623T>A | XP_011539392.1:p.Leu1541= | |
| XM_017000774.2:c.4962T>A | XP_016856263.1:p.Leu1654= | |
| XM_017000777.1:c.4602T>A | XP_016856266.1:p.Leu1534= | |
| XM_017000778.1:c.4602T>A | XP_016856267.1:p.Leu1534= | |
| XM_024454329.1:c.2223T>A | XP_024310097.1:p.Leu741= | |
| XM_024454330.1:c.2202T>A | XP_024310098.1:p.Leu734= | |
| XM_024454331.1:c.2034T>A | XP_024310099.1:p.Leu678= | |
| XM_024454332.1:c.2034T>A | XP_024310100.1:p.Leu678= | |
| XM_024454333.1:c.2034T>A | XP_024310101.1:p.Leu678= | |
| XM_024454334.1:c.2034T>A | XP_024310102.1:p.Leu678= | |
| XM_024454335.1:c.2034T>A | XP_024310103.1:p.Leu678= | |
| XM_024454338.1:c.1695T>A | XP_024310106.1:p.Leu565= | |
| NM_015215.4:c.4941T>A MANE Select | NP_056030.1:p.Leu1647= | |
| NM_001349608.2:c.4851T>A | NP_001336537.1:p.Leu1617= | |
| NM_001349609.2:c.4623T>A | NP_001336538.1:p.Leu1541= | |
| NM_001349610.2:c.4617T>A | NP_001336539.1:p.Leu1539= | |
| NM_001349612.2:c.4533T>A | NP_001336541.1:p.Leu1511= | |
| NM_001349615.2:c.2034T>A | NP_001336544.1:p.Leu678= | |
| NM_001349616.2:c.2034T>A | NP_001336545.1:p.Leu678= | |
| NM_001349618.2:c.2013T>A | NP_001336547.1:p.Leu671= | |
| NM_001349619.2:c.1695T>A | NP_001336548.1:p.Leu565= | |
| NM_001349622.2:c.1695T>A | NP_001336551.1:p.Leu565= | |
| NM_001349624.3:c.1674T>A | NP_001336553.1:p.Leu558= | |
| NM_001349626.2:c.1674T>A | NP_001336555.1:p.Leu558= | |
| NM_001349625.2:c.1674T>A | NP_001336554.1:p.Leu558= |