Linked Data
dbSNP Id:
rs755290356
ExAC:
5:96098019 G / A
gnomAD v2:
5-96098019-G-A
gnomAD v4:
5-96762315-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96762315G>A , CM000667.2:g.96762315G>A | GRCh38 |
| NC_000005.9:g.96098019G>A , CM000667.1:g.96098019G>A | GRCh37 |
| NC_000005.8:g.96123775G>A | NCBI36 |
| NG_027839.1:g.56830C>T | |
| NG_029490.1:g.105279G>A | |
| NG_027839.2:g.178669C>T | |
| NG_029490.2:g.105279G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484552.6:c.795G>A (CAST) | ENSP00000432878.2:p.Val265= | |
| ENST00000508608.6:c.1725G>A (CAST) | ENSP00000422677.2:p.Val575= | |
| ENST00000510756.6:c.1503G>A (CAST) | ENSP00000422176.2:p.Val501= | |
| ENST00000674587.1:c.1332G>A (CAST) | ENSP00000501797.1:p.Val444= | |
| ENST00000674702.1:c.1617G>A (CAST) | ENSP00000502345.1:p.Val539= | |
| ENST00000674984.1:c.1809G>A (CAST) | ENSP00000501713.1:p.Val603= | |
| ENST00000675033.1:c.1503G>A (CAST) | ENSP00000501659.1:p.Val501= | |
| ENST00000675179.1:c.1875G>A (CAST) MANE Select | ENSP00000501872.1:p.Val625= | |
| ENST00000675185.1:c.256G>A (CAST) | ||
| ENST00000675266.1:c.1777G>A (CAST) | ||
| ENST00000675267.1:c.*1499G>A (CAST) | ENSP00000502095.1:n.*1499G>A | |
| ENST00000675275.1:c.592G>A (CAST) | ||
| ENST00000675479.1:c.1488G>A (CAST) | ENSP00000502244.1:p.Val496= | |
| ENST00000675614.1:c.1545G>A (CAST) | ENSP00000502136.1:p.Val515= | |
| ENST00000675663.1:c.1764G>A (CAST) | ENSP00000502449.1:p.Val588= | |
| ENST00000675734.1:n.419G>A (CAST) | ||
| ENST00000675858.1:c.1419G>A (CAST) | ENSP00000501780.1:p.Val473= | |
| ENST00000296754.7:c.*885C>T (ERAP1) | ENSP00000296754.3:n.*885C>T | |
| ENST00000309190.9:c.1560G>A (CAST) | ENSP00000312523.5:p.Val520= | |
| ENST00000325674.11:c.795G>A (CAST) | ENSP00000320319.8:p.Val265= | |
| ENST00000338252.7:c.1587G>A (CAST) | ENSP00000343421.3:p.Val529= | |
| ENST00000341926.7:c.1626G>A (CAST) | ENSP00000339914.3:p.Val542= | |
| ENST00000348386.7:n.1568G>A (CAST) | ||
| ENST00000395812.6:c.1752G>A (CAST) | ENSP00000379157.2:p.Val584= | |
| ENST00000395813.5:c.1626G>A (CAST) | ENSP00000379158.2:p.Val542= | |
| ENST00000437034.6:c.881G>A (CAST) | ||
| ENST00000484552.5:c.853G>A (CAST) | ||
| ENST00000504465.5:c.1410G>A (CAST) | ENSP00000425670.1:p.Val470= | |
| ENST00000508579.5:c.771G>A (CAST) | ENSP00000425787.1:p.Val257= | |
| ENST00000508608.5:c.1764G>A (CAST) | ENSP00000422677.1:p.Val588= | |
| ENST00000508830.5:c.1875G>A (CAST) | ENSP00000425721.1:p.Val625= | |
| ENST00000509903.5:c.1521G>A (CAST) | ENSP00000426946.1:p.Val507= | |
| ENST00000510098.1:c.111G>A (CAST) | ENSP00000427195.1:p.Val37= | |
| ENST00000510156.5:c.1626G>A (CAST) | ENSP00000422325.1:p.Val542= | |
| ENST00000510500.5:c.898G>A (CAST) | ||
| ENST00000510756.5:c.1809G>A (CAST) | ENSP00000422176.1:p.Val603= | |
| ENST00000511049.5:c.1584G>A (CAST) | ENSP00000421130.1:p.Val528= | |
| ENST00000511782.5:c.1584G>A (CAST) | ENSP00000423638.1:p.Val528= | |
| ENST00000515663.5:c.795G>A (CAST) | ENSP00000422929.1:p.Val265= | |
| NM_001042440.3:c.1752G>A (CAST) | NP_001035905.1:p.Val584= | |
| NM_001190442.1:c.1587G>A (CAST) | NP_001177371.1:p.Val529= | |
| NM_001284212.1:c.1503G>A (CAST) | NP_001271141.1:p.Val501= | |
| NM_001284213.1:c.1410G>A (CAST) | NP_001271142.1:p.Val470= | |
| NM_016442.3:c.*885C>T (ERAP1) | NP_057526.3:n.*885C>T | |
| NM_173060.3:c.1560G>A (CAST) | NP_775083.1:p.Val520= | |
| NR_104285.1:n.882G>A (CAST) | ||
| XM_006714696.2:c.1875G>A (CAST) | XP_006714759.1:p.Val625= | |
| XM_006714697.2:c.1875G>A (CAST) | XP_006714760.1:p.Val625= | |
| XM_006714698.2:c.1836G>A (CAST) | XP_006714761.1:p.Val612= | |
| XM_006714699.2:c.1830G>A (CAST) | XP_006714762.1:p.Val610= | |
| XM_006714700.2:c.1818G>A (CAST) | XP_006714763.1:p.Val606= | |
| XM_006714701.2:c.1809G>A (CAST) | XP_006714764.1:p.Val603= | |
| XM_006714702.2:c.1773G>A (CAST) | XP_006714765.1:p.Val591= | |
| XM_006714703.2:c.1770G>A (CAST) | XP_006714766.1:p.Val590= | |
| XM_006714704.2:c.1764G>A (CAST) | XP_006714767.1:p.Val588= | |
| XM_006714705.2:c.1752G>A (CAST) | XP_006714768.1:p.Val584= | |
| XM_006714706.2:c.1707G>A (CAST) | XP_006714769.1:p.Val569= | |
| XM_006714707.2:c.1626G>A (CAST) | XP_006714770.1:p.Val542= | |
| XM_006714708.2:c.1587G>A (CAST) | XP_006714771.1:p.Val529= | |
| XM_006714709.2:c.1569G>A (CAST) | XP_006714772.1:p.Val523= | |
| XM_006714710.2:c.1521G>A (CAST) | XP_006714773.1:p.Val507= | |
| XM_006714711.2:c.1503G>A (CAST) | XP_006714774.1:p.Val501= | |
| XM_006714712.2:c.1464G>A (CAST) | XP_006714775.1:p.Val488= | |
| XM_006714713.2:c.795G>A (CAST) | XP_006714776.1:p.Val265= | |
| XM_006714714.2:c.795G>A (CAST) | XP_006714777.1:p.Val265= | |
| XM_006714715.2:c.771G>A (CAST) | XP_006714778.1:p.Val257= | |
| XM_011543487.1:c.*885C>T (ERAP1) | XP_011541789.1:n.*885C>T | |
| XM_011543654.1:c.1794G>A (CAST) | XP_011541956.1:p.Val598= | |
| XM_011543655.1:c.1791G>A (CAST) | XP_011541957.1:p.Val597= | |
| XM_011543656.1:c.1728G>A (CAST) | XP_011541958.1:p.Val576= | |
| XM_011543657.1:c.1683G>A (CAST) | XP_011541959.1:p.Val561= | |
| XM_011543658.1:c.1479G>A (CAST) | XP_011541960.1:p.Val493= | |
| NM_001042440.4:c.1752G>A (CAST) | NP_001035905.1:p.Val584= | |
| NM_001042441.2:c.1818G>A (CAST) | NP_001035906.1:p.Val606= | |
| NM_001042442.2:c.1809G>A (CAST) | NP_001035907.1:p.Val603= | |
| NM_001042443.2:c.1626G>A (CAST) | NP_001035908.1:p.Val542= | |
| NM_001042444.2:c.1503G>A (CAST) | NP_001035909.1:p.Val501= | |
| NM_001042445.2:c.1521G>A (CAST) | NP_001035910.1:p.Val507= | |
| NM_001042446.2:c.1464G>A (CAST) | NP_001035911.1:p.Val488= | |
| NM_001284212.3:c.1503G>A (CAST) | NP_001271141.1:p.Val501= | |
| NM_001284213.3:c.1410G>A (CAST) | NP_001271142.1:p.Val470= | |
| NM_001330626.1:c.1779G>A (CAST) | NP_001317555.1:p.Val593= | |
| NM_001330627.1:c.1752G>A (CAST) | NP_001317556.1:p.Val584= | |
| NM_001330628.1:c.1707G>A (CAST) | NP_001317557.1:p.Val569= | |
| NM_001330629.1:c.1791G>A (CAST) | NP_001317558.1:p.Val597= | |
| NM_001330630.1:c.1464G>A (CAST) | NP_001317559.1:p.Val488= | |
| NM_001330631.1:c.1587G>A (CAST) | NP_001317560.1:p.Val529= | |
| NM_001330632.1:c.1560G>A (CAST) | NP_001317561.1:p.Val520= | |
| NM_001330633.1:c.1569G>A (CAST) | NP_001317562.1:p.Val523= | |
| NM_001330634.1:c.1530G>A (CAST) | NP_001317563.1:p.Val510= | |
| NM_001349244.1:c.*885C>T (ERAP1) | NP_001336173.1:n.*885C>T | |
| NM_001750.6:c.1875G>A (CAST) | NP_001741.4:p.Val625= | |
| NM_016442.4:c.*885C>T (ERAP1) | NP_057526.3:n.*885C>T | |
| NM_173060.4:c.1560G>A (CAST) | NP_775083.1:p.Val520= | |
| XR_001742119.2:n.3870C>T (ERAP1) | ||
| NM_001042440.5:c.1752G>A (CAST) | NP_001035905.1:p.Val584= | |
| NM_001042441.3:c.1818G>A (CAST) | NP_001035906.1:p.Val606= | |
| NM_001042442.3:c.1809G>A (CAST) | NP_001035907.1:p.Val603= | |
| NM_001330626.2:c.1779G>A (CAST) | NP_001317555.1:p.Val593= | |
| NM_001330627.2:c.1752G>A (CAST) | NP_001317556.1:p.Val584= | |
| NM_001330628.2:c.1707G>A (CAST) | NP_001317557.1:p.Val569= | |
| NM_001330629.2:c.1791G>A (CAST) | NP_001317558.1:p.Val597= | |
| NM_001375317.1:c.1764G>A (CAST) | NP_001362246.1:p.Val588= | |
| NM_001750.7:c.1875G>A (CAST) MANE Select | NP_001741.4:p.Val625= | |
| NR_104285.2:n.820G>A (CAST) | ||
| NM_001042443.3:c.1626G>A (CAST) | NP_001035908.1:p.Val542= | |
| NM_001042444.3:c.1503G>A (CAST) | NP_001035909.1:p.Val501= | |
| NM_001042445.3:c.1521G>A (CAST) | NP_001035910.1:p.Val507= | |
| NM_001042446.3:c.1464G>A (CAST) | NP_001035911.1:p.Val488= | |
| NM_001190442.2:c.1587G>A (CAST) | NP_001177371.1:p.Val529= | |
| NM_001284212.4:c.1503G>A (CAST) | NP_001271141.1:p.Val501= | |
| NM_001284213.4:c.1410G>A (CAST) | NP_001271142.1:p.Val470= | |
| NM_001330630.2:c.1464G>A (CAST) | NP_001317559.1:p.Val488= | |
| NM_001330631.2:c.1587G>A (CAST) | NP_001317560.1:p.Val529= | |
| NM_001330632.2:c.1560G>A (CAST) | NP_001317561.1:p.Val520= | |
| NM_001330633.2:c.1569G>A (CAST) | NP_001317562.1:p.Val523= | |
| NM_001330634.2:c.1530G>A (CAST) | NP_001317563.1:p.Val510= | |
| NM_001349244.2:c.*885C>T (ERAP1) | NP_001336173.1:n.*885C>T | |
| NM_016442.5:c.*885C>T (ERAP1) | NP_057526.3:n.*885C>T | |
| NM_173060.5:c.1560G>A (CAST) | NP_775083.1:p.Val520= |