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_000011.10:g.17395892G>T , CM000673.2:g.17395892G>T | GRCh38 |
| NC_000011.9:g.17417439G>T , CM000673.1:g.17417439G>T | GRCh37 |
| NC_000011.8:g.17374015G>T | NCBI36 |
| NG_008867.1:g.86011C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3759C>A | ||
| ENST00000528374.2:c.749C>A | ||
| ENST00000529967.6:n.2497C>A | ||
| ENST00000532220.2:n.3391C>A | ||
| ENST00000642611.2:n.5358C>A | ||
| ENST00000644057.2:n.601C>A | ||
| ENST00000645004.2:n.1657C>A | ||
| ENST00000682051.1:n.4320C>A | ||
| ENST00000682110.1:n.4373C>A | ||
| ENST00000682140.1:c.4024C>A | ENSP00000507829.1:p.Leu1342Ile | |
| ENST00000682185.1:n.5463C>A | ||
| ENST00000682204.1:c.*2296C>A | ENSP00000507094.1:n.*2296C>A | |
| ENST00000682215.1:n.4740C>A | ||
| ENST00000682288.1:c.*2589C>A | ENSP00000507506.1:n.*2589C>A | |
| ENST00000682442.1:n.4593C>A | ||
| ENST00000682528.1:n.4450C>A | ||
| ENST00000682673.1:n.4317C>A | ||
| ENST00000682805.1:n.4778C>A | ||
| ENST00000682965.1:c.*580C>A | ENSP00000508229.1:n.*580C>A | |
| ENST00000683093.1:n.5457C>A | ||
| ENST00000683136.1:c.4041C>A | ENSP00000507768.1:p.Ser1347= | |
| ENST00000683153.1:n.4415C>A | ||
| ENST00000683365.1:n.4475C>A | ||
| ENST00000683377.1:n.4373C>A | ||
| ENST00000683456.1:c.*1295C>A | ENSP00000508318.1:n.*1295C>A | |
| ENST00000683522.1:n.4373C>A | ||
| ENST00000683562.1:c.*2327C>A | ENSP00000508265.1:n.*2327C>A | |
| ENST00000683693.1:n.5805C>A | ||
| ENST00000683725.1:c.4158C>A | ENSP00000507496.1:p.Ser1386= | |
| ENST00000684010.1:n.4368C>A | ||
| ENST00000684157.1:n.5358C>A | ||
| ENST00000684253.1:n.4276C>A | ||
| ENST00000684288.1:c.*2330C>A | ENSP00000507143.1:n.*2330C>A | |
| ENST00000684313.1:n.3805C>A | ||
| ENST00000684332.1:n.4446C>A | ||
| ENST00000684371.1:n.4479C>A | ||
| ENST00000684404.1:n.5401C>A | ||
| ENST00000684442.1:n.4597C>A | ||
| ENST00000684555.1:c.*2370C>A | ENSP00000507705.1:n.*2370C>A | |
| ENST00000684571.1:c.3999C>A | ENSP00000506935.1:p.Ser1333= | |
| ENST00000684593.1:c.*3863C>A | ENSP00000507005.1:n.*3863C>A | |
| ENST00000684711.1:c.*2554C>A | ENSP00000506841.1:n.*2554C>A | |
| ENST00000302539.9:c.4161C>A | ENSP00000303960.4:p.Ser1387= | |
| ENST00000389817.8:c.4158C>A MANE Select | ENSP00000374467.4:p.Ser1386= | |
| ENST00000642271.1:c.4155C>A | ENSP00000493749.1:p.Ser1385= | |
| ENST00000642579.1:c.2212C>A | ||
| ENST00000642611.1:n.5243C>A | ||
| ENST00000642902.1:c.3940C>A | ||
| ENST00000643260.1:c.4158C>A | ENSP00000494450.1:p.Ser1386= | |
| ENST00000643562.1:c.*2280C>A | ENSP00000496124.1:n.*2280C>A | |
| ENST00000643925.1:c.2798C>A | ||
| ENST00000644057.1:n.235C>A | ||
| ENST00000644484.1:c.*3544C>A | ENSP00000493558.1:n.*3544C>A | |
| ENST00000644675.1:c.*2330C>A | ENSP00000494567.1:n.*2330C>A | |
| ENST00000644757.1:c.*3202+372C>A | ENSP00000495085.1:n.*3202+372C>A | |
| ENST00000644772.1:c.4224C>A | ENSP00000494321.1:p.Ser1408= | |
| ENST00000645004.1:n.1851C>A | ||
| ENST00000645076.1:c.3357C>A | ||
| ENST00000645417.1:c.1346C>A | ||
| ENST00000645744.1:c.*3923C>A | ENSP00000494564.1:n.*3923C>A | |
| ENST00000645760.1:c.4579C>A | ||
| ENST00000645884.1:c.*1441C>A | ENSP00000495516.1:n.*1441C>A | |
| ENST00000646003.1:c.*2260C>A | ENSP00000495259.1:n.*2260C>A | |
| ENST00000646207.1:c.*2995C>A | ENSP00000495025.1:n.*2995C>A | |
| ENST00000646276.1:c.*3562C>A | ENSP00000496070.1:n.*3562C>A | |
| ENST00000646592.1:c.3464C>A | ||
| ENST00000646902.1:c.4125C>A | ENSP00000494101.1:p.Ser1375= | |
| ENST00000646993.1:c.*2700C>A | ENSP00000493720.1:n.*2700C>A | |
| ENST00000647013.1:c.4164C>A | ENSP00000496741.1:n.4164C>A | |
| ENST00000647015.1:c.3909C>A | ENSP00000495389.1:p.Ser1303= | |
| ENST00000647086.1:c.*3744C>A | ENSP00000493677.1:n.*3744C>A | |
| ENST00000647158.1:c.*2445C>A | ENSP00000495744.1:n.*2445C>A | |
| ENST00000302539.8:c.4161C>A | ENSP00000303960.4:p.Ser1387= | |
| ENST00000389817.7:c.4158C>A | ENSP00000374467.3:p.Ser1386= | |
| ENST00000525022.1:n.24C>A | ||
| ENST00000526168.5:c.26C>A | ||
| NM_000352.4:c.4158C>A | NP_000343.2:p.Ser1386= | |
| NM_001287174.1:c.4161C>A | NP_001274103.1:p.Ser1387= | |
| XM_011520331.1:c.4158C>A | XP_011518633.1:p.Ser1386= | |
| XM_011520332.1:c.4161C>A | XP_011518634.1:p.Ser1387= | |
| XM_011520333.1:c.2658C>A | XP_011518635.1:p.Ser886= | |
| XR_930890.1:n.4224C>A | ||
| NM_001351295.1:c.4224C>A | NP_001338224.1:p.Ser1408= | |
| NM_001351296.1:c.4158C>A | NP_001338225.1:p.Ser1386= | |
| NM_001351297.1:c.4155C>A | NP_001338226.1:p.Ser1385= | |
| NR_147094.1:n.4453C>A | ||
| XM_017018197.2:c.4227C>A | XP_016873686.1:p.Ser1409= | |
| XM_017018199.1:c.4224C>A | XP_016873688.1:p.Ser1408= | |
| XM_017018201.2:c.4227C>A | XP_016873690.1:p.Ser1409= | |
| XM_017018202.1:c.2724C>A | XP_016873691.1:p.Ser908= | |
| XM_017018204.1:c.2115C>A | XP_016873693.1:p.Ser705= | |
| XM_024448668.1:c.2526C>A | XP_024304436.1:p.Ser842= | |
| XR_001747945.2:n.4299C>A | ||
| XR_001747946.2:n.4230C>A | ||
| XR_002957189.1:n.5880C>A | ||
| NM_000352.6:c.4158C>A MANE Select | NP_000343.2:p.Ser1386= | |
| NM_001287174.2:c.4161C>A | NP_001274103.1:p.Ser1387= | |
| NM_001351295.2:c.4224C>A | NP_001338224.1:p.Ser1408= | |
| NM_001351296.2:c.4158C>A | NP_001338225.1:p.Ser1386= | |
| NM_001351297.2:c.4155C>A | NP_001338226.1:p.Ser1385= | |
| NR_147094.2:n.4453C>A | ||
| NM_001287174.3:c.4161C>A | NP_001274103.1:p.Ser1387= |