Linked Data
dbSNP Id:
rs753179845
ExAC:
5:96098035 G / C
gnomAD v2:
5-96098035-G-C
gnomAD v4:
5-96762331-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96762331G>C , CM000667.2:g.96762331G>C | GRCh38 |
| NC_000005.9:g.96098035G>C , CM000667.1:g.96098035G>C | GRCh37 |
| NC_000005.8:g.96123791G>C | NCBI36 |
| NG_027839.1:g.56814C>G | |
| NG_029490.1:g.105295G>C | |
| NG_027839.2:g.178653C>G | |
| NG_029490.2:g.105295G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484552.6:c.811G>C (CAST) | ENSP00000432878.2:p.Ala271Pro | |
| ENST00000508608.6:c.1741G>C (CAST) | ENSP00000422677.2:p.Ala581Pro | |
| ENST00000510756.6:c.1519G>C (CAST) | ENSP00000422176.2:p.Ala507Pro | |
| ENST00000674587.1:c.1348G>C (CAST) | ENSP00000501797.1:p.Ala450Pro | |
| ENST00000674702.1:c.1633G>C (CAST) | ENSP00000502345.1:p.Ala545Pro | |
| ENST00000674984.1:c.1825G>C (CAST) | ENSP00000501713.1:p.Ala609Pro | |
| ENST00000675033.1:c.1519G>C (CAST) | ENSP00000501659.1:p.Ala507Pro | |
| ENST00000675179.1:c.1891G>C (CAST) MANE Select | ENSP00000501872.1:p.Ala631Pro | |
| ENST00000675185.1:c.272G>C (CAST) | ||
| ENST00000675266.1:c.1793G>C (CAST) | ||
| ENST00000675267.1:c.*1515G>C (CAST) | ENSP00000502095.1:n.*1515G>C | |
| ENST00000675275.1:c.608G>C (CAST) | ||
| ENST00000675479.1:c.1504G>C (CAST) | ENSP00000502244.1:p.Ala502Pro | |
| ENST00000675614.1:c.1561G>C (CAST) | ENSP00000502136.1:p.Ala521Pro | |
| ENST00000675663.1:c.1780G>C (CAST) | ENSP00000502449.1:p.Ala594Pro | |
| ENST00000675734.1:n.435G>C (CAST) | ||
| ENST00000675858.1:c.1435G>C (CAST) | ENSP00000501780.1:p.Ala479Pro | |
| ENST00000296754.7:c.*869C>G (ERAP1) | ENSP00000296754.3:n.*869C>G | |
| ENST00000309190.9:c.1576G>C (CAST) | ENSP00000312523.5:p.Ala526Pro | |
| ENST00000325674.11:c.811G>C (CAST) | ENSP00000320319.8:p.Ala271Pro | |
| ENST00000338252.7:c.1603G>C (CAST) | ENSP00000343421.3:p.Ala535Pro | |
| ENST00000341926.7:c.1642G>C (CAST) | ENSP00000339914.3:p.Ala548Pro | |
| ENST00000348386.7:n.1584G>C (CAST) | ||
| ENST00000395812.6:c.1768G>C (CAST) | ENSP00000379157.2:p.Ala590Pro | |
| ENST00000395813.5:c.1642G>C (CAST) | ENSP00000379158.2:p.Ala548Pro | |
| ENST00000437034.6:c.897G>C (CAST) | ||
| ENST00000484552.5:c.869G>C (CAST) | ||
| ENST00000504465.5:c.1426G>C (CAST) | ENSP00000425670.1:p.Ala476Pro | |
| ENST00000508579.5:c.787G>C (CAST) | ENSP00000425787.1:p.Ala263Pro | |
| ENST00000508608.5:c.1780G>C (CAST) | ENSP00000422677.1:p.Ala594Pro | |
| ENST00000508830.5:c.1891G>C (CAST) | ENSP00000425721.1:p.Ala631Pro | |
| ENST00000509903.5:c.1537G>C (CAST) | ENSP00000426946.1:p.Ala513Pro | |
| ENST00000510098.1:c.127G>C (CAST) | ENSP00000427195.1:p.Ala43Pro | |
| ENST00000510156.5:c.1642G>C (CAST) | ENSP00000422325.1:p.Ala548Pro | |
| ENST00000510500.5:c.914G>C (CAST) | ||
| ENST00000510756.5:c.1825G>C (CAST) | ENSP00000422176.1:p.Ala609Pro | |
| ENST00000511049.5:c.1600G>C (CAST) | ENSP00000421130.1:p.Ala534Pro | |
| ENST00000511782.5:c.1600G>C (CAST) | ENSP00000423638.1:p.Ala534Pro | |
| ENST00000515663.5:c.811G>C (CAST) | ENSP00000422929.1:p.Ala271Pro | |
| NM_001042440.3:c.1768G>C (CAST) | NP_001035905.1:p.Ala590Pro | |
| NM_001190442.1:c.1603G>C (CAST) | NP_001177371.1:p.Ala535Pro | |
| NM_001284212.1:c.1519G>C (CAST) | NP_001271141.1:p.Ala507Pro | |
| NM_001284213.1:c.1426G>C (CAST) | NP_001271142.1:p.Ala476Pro | |
| NM_016442.3:c.*869C>G (ERAP1) | NP_057526.3:n.*869C>G | |
| NM_173060.3:c.1576G>C (CAST) | NP_775083.1:p.Ala526Pro | |
| NR_104285.1:n.898G>C (CAST) | ||
| XM_006714696.2:c.1891G>C (CAST) | XP_006714759.1:p.Ala631Pro | |
| XM_006714697.2:c.1891G>C (CAST) | XP_006714760.1:p.Ala631Pro | |
| XM_006714698.2:c.1852G>C (CAST) | XP_006714761.1:p.Ala618Pro | |
| XM_006714699.2:c.1846G>C (CAST) | XP_006714762.1:p.Ala616Pro | |
| XM_006714700.2:c.1834G>C (CAST) | XP_006714763.1:p.Ala612Pro | |
| XM_006714701.2:c.1825G>C (CAST) | XP_006714764.1:p.Ala609Pro | |
| XM_006714702.2:c.1789G>C (CAST) | XP_006714765.1:p.Ala597Pro | |
| XM_006714703.2:c.1786G>C (CAST) | XP_006714766.1:p.Ala596Pro | |
| XM_006714704.2:c.1780G>C (CAST) | XP_006714767.1:p.Ala594Pro | |
| XM_006714705.2:c.1768G>C (CAST) | XP_006714768.1:p.Ala590Pro | |
| XM_006714706.2:c.1723G>C (CAST) | XP_006714769.1:p.Ala575Pro | |
| XM_006714707.2:c.1642G>C (CAST) | XP_006714770.1:p.Ala548Pro | |
| XM_006714708.2:c.1603G>C (CAST) | XP_006714771.1:p.Ala535Pro | |
| XM_006714709.2:c.1585G>C (CAST) | XP_006714772.1:p.Ala529Pro | |
| XM_006714710.2:c.1537G>C (CAST) | XP_006714773.1:p.Ala513Pro | |
| XM_006714711.2:c.1519G>C (CAST) | XP_006714774.1:p.Ala507Pro | |
| XM_006714712.2:c.1480G>C (CAST) | XP_006714775.1:p.Ala494Pro | |
| XM_006714713.2:c.811G>C (CAST) | XP_006714776.1:p.Ala271Pro | |
| XM_006714714.2:c.811G>C (CAST) | XP_006714777.1:p.Ala271Pro | |
| XM_006714715.2:c.787G>C (CAST) | XP_006714778.1:p.Ala263Pro | |
| XM_011543487.1:c.*869C>G (ERAP1) | XP_011541789.1:n.*869C>G | |
| XM_011543654.1:c.1810G>C (CAST) | XP_011541956.1:p.Ala604Pro | |
| XM_011543655.1:c.1807G>C (CAST) | XP_011541957.1:p.Ala603Pro | |
| XM_011543656.1:c.1744G>C (CAST) | XP_011541958.1:p.Ala582Pro | |
| XM_011543657.1:c.1699G>C (CAST) | XP_011541959.1:p.Ala567Pro | |
| XM_011543658.1:c.1495G>C (CAST) | XP_011541960.1:p.Ala499Pro | |
| NM_001042440.4:c.1768G>C (CAST) | NP_001035905.1:p.Ala590Pro | |
| NM_001042441.2:c.1834G>C (CAST) | NP_001035906.1:p.Ala612Pro | |
| NM_001042442.2:c.1825G>C (CAST) | NP_001035907.1:p.Ala609Pro | |
| NM_001042443.2:c.1642G>C (CAST) | NP_001035908.1:p.Ala548Pro | |
| NM_001042444.2:c.1519G>C (CAST) | NP_001035909.1:p.Ala507Pro | |
| NM_001042445.2:c.1537G>C (CAST) | NP_001035910.1:p.Ala513Pro | |
| NM_001042446.2:c.1480G>C (CAST) | NP_001035911.1:p.Ala494Pro | |
| NM_001284212.3:c.1519G>C (CAST) | NP_001271141.1:p.Ala507Pro | |
| NM_001284213.3:c.1426G>C (CAST) | NP_001271142.1:p.Ala476Pro | |
| NM_001330626.1:c.1795G>C (CAST) | NP_001317555.1:p.Ala599Pro | |
| NM_001330627.1:c.1768G>C (CAST) | NP_001317556.1:p.Ala590Pro | |
| NM_001330628.1:c.1723G>C (CAST) | NP_001317557.1:p.Ala575Pro | |
| NM_001330629.1:c.1807G>C (CAST) | NP_001317558.1:p.Ala603Pro | |
| NM_001330630.1:c.1480G>C (CAST) | NP_001317559.1:p.Ala494Pro | |
| NM_001330631.1:c.1603G>C (CAST) | NP_001317560.1:p.Ala535Pro | |
| NM_001330632.1:c.1576G>C (CAST) | NP_001317561.1:p.Ala526Pro | |
| NM_001330633.1:c.1585G>C (CAST) | NP_001317562.1:p.Ala529Pro | |
| NM_001330634.1:c.1546G>C (CAST) | NP_001317563.1:p.Ala516Pro | |
| NM_001349244.1:c.*869C>G (ERAP1) | NP_001336173.1:n.*869C>G | |
| NM_001750.6:c.1891G>C (CAST) | NP_001741.4:p.Ala631Pro | |
| NM_016442.4:c.*869C>G (ERAP1) | NP_057526.3:n.*869C>G | |
| NM_173060.4:c.1576G>C (CAST) | NP_775083.1:p.Ala526Pro | |
| XR_001742119.2:n.3854C>G (ERAP1) | ||
| NM_001042440.5:c.1768G>C (CAST) | NP_001035905.1:p.Ala590Pro | |
| NM_001042441.3:c.1834G>C (CAST) | NP_001035906.1:p.Ala612Pro | |
| NM_001042442.3:c.1825G>C (CAST) | NP_001035907.1:p.Ala609Pro | |
| NM_001330626.2:c.1795G>C (CAST) | NP_001317555.1:p.Ala599Pro | |
| NM_001330627.2:c.1768G>C (CAST) | NP_001317556.1:p.Ala590Pro | |
| NM_001330628.2:c.1723G>C (CAST) | NP_001317557.1:p.Ala575Pro | |
| NM_001330629.2:c.1807G>C (CAST) | NP_001317558.1:p.Ala603Pro | |
| NM_001375317.1:c.1780G>C (CAST) | NP_001362246.1:p.Ala594Pro | |
| NM_001750.7:c.1891G>C (CAST) MANE Select | NP_001741.4:p.Ala631Pro | |
| NR_104285.2:n.836G>C (CAST) | ||
| NM_001042443.3:c.1642G>C (CAST) | NP_001035908.1:p.Ala548Pro | |
| NM_001042444.3:c.1519G>C (CAST) | NP_001035909.1:p.Ala507Pro | |
| NM_001042445.3:c.1537G>C (CAST) | NP_001035910.1:p.Ala513Pro | |
| NM_001042446.3:c.1480G>C (CAST) | NP_001035911.1:p.Ala494Pro | |
| NM_001190442.2:c.1603G>C (CAST) | NP_001177371.1:p.Ala535Pro | |
| NM_001284212.4:c.1519G>C (CAST) | NP_001271141.1:p.Ala507Pro | |
| NM_001284213.4:c.1426G>C (CAST) | NP_001271142.1:p.Ala476Pro | |
| NM_001330630.2:c.1480G>C (CAST) | NP_001317559.1:p.Ala494Pro | |
| NM_001330631.2:c.1603G>C (CAST) | NP_001317560.1:p.Ala535Pro | |
| NM_001330632.2:c.1576G>C (CAST) | NP_001317561.1:p.Ala526Pro | |
| NM_001330633.2:c.1585G>C (CAST) | NP_001317562.1:p.Ala529Pro | |
| NM_001330634.2:c.1546G>C (CAST) | NP_001317563.1:p.Ala516Pro | |
| NM_001349244.2:c.*869C>G (ERAP1) | NP_001336173.1:n.*869C>G | |
| NM_016442.5:c.*869C>G (ERAP1) | NP_057526.3:n.*869C>G | |
| NM_173060.5:c.1576G>C (CAST) | NP_775083.1:p.Ala526Pro |