Canonical Allele Identifier: CA360484926
Gene: CAST HGNC NCBI
ERAP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.96098010C>G (hg19) chr5:g.96762306C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96762306C>G , CM000667.2:g.96762306C>G GRCh38
NC_000005.9:g.96098010C>G , CM000667.1:g.96098010C>G GRCh37
NC_000005.8:g.96123766C>G NCBI36
NG_027839.1:g.56839G>C
NG_029490.1:g.105270C>G
NG_027839.2:g.178678G>C
NG_029490.2:g.105270C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000484552.6:c.786C>G (CAST) ENSP00000432878.2:p.Ile262Met
ENST00000508608.6:c.1716C>G (CAST) ENSP00000422677.2:p.Ile572Met
ENST00000510756.6:c.1494C>G (CAST) ENSP00000422176.2:p.Ile498Met
ENST00000674587.1:c.1323C>G (CAST) ENSP00000501797.1:p.Ile441Met
ENST00000674702.1:c.1608C>G (CAST) ENSP00000502345.1:p.Ile536Met
ENST00000674984.1:c.1800C>G (CAST) ENSP00000501713.1:p.Ile600Met
ENST00000675033.1:c.1494C>G (CAST) ENSP00000501659.1:p.Ile498Met
ENST00000675179.1:c.1866C>G (CAST) MANE Select ENSP00000501872.1:p.Ile622Met
ENST00000675185.1:c.247C>G (CAST)
ENST00000675266.1:c.1768C>G (CAST)
ENST00000675267.1:c.*1490C>G (CAST) ENSP00000502095.1:n.*1490C>G
ENST00000675275.1:c.583C>G (CAST)
ENST00000675479.1:c.1479C>G (CAST) ENSP00000502244.1:p.Ile493Met
ENST00000675614.1:c.1536C>G (CAST) ENSP00000502136.1:p.Ile512Met
ENST00000675663.1:c.1755C>G (CAST) ENSP00000502449.1:p.Ile585Met
ENST00000675734.1:n.410C>G (CAST)
ENST00000675858.1:c.1410C>G (CAST) ENSP00000501780.1:p.Ile470Met
ENST00000296754.7:c.*894G>C (ERAP1) ENSP00000296754.3:n.*894G>C
ENST00000309190.9:c.1551C>G (CAST) ENSP00000312523.5:p.Ile517Met
ENST00000325674.11:c.786C>G (CAST) ENSP00000320319.8:p.Ile262Met
ENST00000338252.7:c.1578C>G (CAST) ENSP00000343421.3:p.Ile526Met
ENST00000341926.7:c.1617C>G (CAST) ENSP00000339914.3:p.Ile539Met
ENST00000348386.7:n.1559C>G (CAST)
ENST00000395812.6:c.1743C>G (CAST) ENSP00000379157.2:p.Ile581Met
ENST00000395813.5:c.1617C>G (CAST) ENSP00000379158.2:p.Ile539Met
ENST00000437034.6:c.872C>G (CAST)
ENST00000484552.5:c.844C>G (CAST)
ENST00000504465.5:c.1401C>G (CAST) ENSP00000425670.1:p.Ile467Met
ENST00000508579.5:c.762C>G (CAST) ENSP00000425787.1:p.Ile254Met
ENST00000508608.5:c.1755C>G (CAST) ENSP00000422677.1:p.Ile585Met
ENST00000508830.5:c.1866C>G (CAST) ENSP00000425721.1:p.Ile622Met
ENST00000509903.5:c.1512C>G (CAST) ENSP00000426946.1:p.Ile504Met
ENST00000510098.1:c.102C>G (CAST) ENSP00000427195.1:p.Ile34Met
ENST00000510156.5:c.1617C>G (CAST) ENSP00000422325.1:p.Ile539Met
ENST00000510500.5:c.889C>G (CAST)
ENST00000510756.5:c.1800C>G (CAST) ENSP00000422176.1:p.Ile600Met
ENST00000511049.5:c.1575C>G (CAST) ENSP00000421130.1:p.Ile525Met
ENST00000511782.5:c.1575C>G (CAST) ENSP00000423638.1:p.Ile525Met
ENST00000515663.5:c.786C>G (CAST) ENSP00000422929.1:p.Ile262Met
NM_001042440.3:c.1743C>G (CAST) NP_001035905.1:p.Ile581Met
NM_001190442.1:c.1578C>G (CAST) NP_001177371.1:p.Ile526Met
NM_001284212.1:c.1494C>G (CAST) NP_001271141.1:p.Ile498Met
NM_001284213.1:c.1401C>G (CAST) NP_001271142.1:p.Ile467Met
NM_016442.3:c.*894G>C (ERAP1) NP_057526.3:n.*894G>C
NM_173060.3:c.1551C>G (CAST) NP_775083.1:p.Ile517Met
NR_104285.1:n.873C>G (CAST)
XM_006714696.2:c.1866C>G (CAST) XP_006714759.1:p.Ile622Met
XM_006714697.2:c.1866C>G (CAST) XP_006714760.1:p.Ile622Met
XM_006714698.2:c.1827C>G (CAST) XP_006714761.1:p.Ile609Met
XM_006714699.2:c.1821C>G (CAST) XP_006714762.1:p.Ile607Met
XM_006714700.2:c.1809C>G (CAST) XP_006714763.1:p.Ile603Met
XM_006714701.2:c.1800C>G (CAST) XP_006714764.1:p.Ile600Met
XM_006714702.2:c.1764C>G (CAST) XP_006714765.1:p.Ile588Met
XM_006714703.2:c.1761C>G (CAST) XP_006714766.1:p.Ile587Met
XM_006714704.2:c.1755C>G (CAST) XP_006714767.1:p.Ile585Met
XM_006714705.2:c.1743C>G (CAST) XP_006714768.1:p.Ile581Met
XM_006714706.2:c.1698C>G (CAST) XP_006714769.1:p.Ile566Met
XM_006714707.2:c.1617C>G (CAST) XP_006714770.1:p.Ile539Met
XM_006714708.2:c.1578C>G (CAST) XP_006714771.1:p.Ile526Met
XM_006714709.2:c.1560C>G (CAST) XP_006714772.1:p.Ile520Met
XM_006714710.2:c.1512C>G (CAST) XP_006714773.1:p.Ile504Met
XM_006714711.2:c.1494C>G (CAST) XP_006714774.1:p.Ile498Met
XM_006714712.2:c.1455C>G (CAST) XP_006714775.1:p.Ile485Met
XM_006714713.2:c.786C>G (CAST) XP_006714776.1:p.Ile262Met
XM_006714714.2:c.786C>G (CAST) XP_006714777.1:p.Ile262Met
XM_006714715.2:c.762C>G (CAST) XP_006714778.1:p.Ile254Met
XM_011543487.1:c.*894G>C (ERAP1) XP_011541789.1:n.*894G>C
XM_011543654.1:c.1785C>G (CAST) XP_011541956.1:p.Ile595Met
XM_011543655.1:c.1782C>G (CAST) XP_011541957.1:p.Ile594Met
XM_011543656.1:c.1719C>G (CAST) XP_011541958.1:p.Ile573Met
XM_011543657.1:c.1674C>G (CAST) XP_011541959.1:p.Ile558Met
XM_011543658.1:c.1470C>G (CAST) XP_011541960.1:p.Ile490Met
NM_001042440.4:c.1743C>G (CAST) NP_001035905.1:p.Ile581Met
NM_001042441.2:c.1809C>G (CAST) NP_001035906.1:p.Ile603Met
NM_001042442.2:c.1800C>G (CAST) NP_001035907.1:p.Ile600Met
NM_001042443.2:c.1617C>G (CAST) NP_001035908.1:p.Ile539Met
NM_001042444.2:c.1494C>G (CAST) NP_001035909.1:p.Ile498Met
NM_001042445.2:c.1512C>G (CAST) NP_001035910.1:p.Ile504Met
NM_001042446.2:c.1455C>G (CAST) NP_001035911.1:p.Ile485Met
NM_001284212.3:c.1494C>G (CAST) NP_001271141.1:p.Ile498Met
NM_001284213.3:c.1401C>G (CAST) NP_001271142.1:p.Ile467Met
NM_001330626.1:c.1770C>G (CAST) NP_001317555.1:p.Ile590Met
NM_001330627.1:c.1743C>G (CAST) NP_001317556.1:p.Ile581Met
NM_001330628.1:c.1698C>G (CAST) NP_001317557.1:p.Ile566Met
NM_001330629.1:c.1782C>G (CAST) NP_001317558.1:p.Ile594Met
NM_001330630.1:c.1455C>G (CAST) NP_001317559.1:p.Ile485Met
NM_001330631.1:c.1578C>G (CAST) NP_001317560.1:p.Ile526Met
NM_001330632.1:c.1551C>G (CAST) NP_001317561.1:p.Ile517Met
NM_001330633.1:c.1560C>G (CAST) NP_001317562.1:p.Ile520Met
NM_001330634.1:c.1521C>G (CAST) NP_001317563.1:p.Ile507Met
NM_001349244.1:c.*894G>C (ERAP1) NP_001336173.1:n.*894G>C
NM_001750.6:c.1866C>G (CAST) NP_001741.4:p.Ile622Met
NM_016442.4:c.*894G>C (ERAP1) NP_057526.3:n.*894G>C
NM_173060.4:c.1551C>G (CAST) NP_775083.1:p.Ile517Met
XR_001742119.2:n.3879G>C (ERAP1)
NM_001042440.5:c.1743C>G (CAST) NP_001035905.1:p.Ile581Met
NM_001042441.3:c.1809C>G (CAST) NP_001035906.1:p.Ile603Met
NM_001042442.3:c.1800C>G (CAST) NP_001035907.1:p.Ile600Met
NM_001330626.2:c.1770C>G (CAST) NP_001317555.1:p.Ile590Met
NM_001330627.2:c.1743C>G (CAST) NP_001317556.1:p.Ile581Met
NM_001330628.2:c.1698C>G (CAST) NP_001317557.1:p.Ile566Met
NM_001330629.2:c.1782C>G (CAST) NP_001317558.1:p.Ile594Met
NM_001375317.1:c.1755C>G (CAST) NP_001362246.1:p.Ile585Met
NM_001750.7:c.1866C>G (CAST) MANE Select NP_001741.4:p.Ile622Met
NR_104285.2:n.811C>G (CAST)
NM_001042443.3:c.1617C>G (CAST) NP_001035908.1:p.Ile539Met
NM_001042444.3:c.1494C>G (CAST) NP_001035909.1:p.Ile498Met
NM_001042445.3:c.1512C>G (CAST) NP_001035910.1:p.Ile504Met
NM_001042446.3:c.1455C>G (CAST) NP_001035911.1:p.Ile485Met
NM_001190442.2:c.1578C>G (CAST) NP_001177371.1:p.Ile526Met
NM_001284212.4:c.1494C>G (CAST) NP_001271141.1:p.Ile498Met
NM_001284213.4:c.1401C>G (CAST) NP_001271142.1:p.Ile467Met
NM_001330630.2:c.1455C>G (CAST) NP_001317559.1:p.Ile485Met
NM_001330631.2:c.1578C>G (CAST) NP_001317560.1:p.Ile526Met
NM_001330632.2:c.1551C>G (CAST) NP_001317561.1:p.Ile517Met
NM_001330633.2:c.1560C>G (CAST) NP_001317562.1:p.Ile520Met
NM_001330634.2:c.1521C>G (CAST) NP_001317563.1:p.Ile507Met
NM_001349244.2:c.*894G>C (ERAP1) NP_001336173.1:n.*894G>C
NM_016442.5:c.*894G>C (ERAP1) NP_057526.3:n.*894G>C
NM_173060.5:c.1551C>G (CAST) NP_775083.1:p.Ile517Met
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