Canonical Allele Identifier: CA360484970

Gene: CAST ERAP1

Linked Data

• MyVariant Identifiers: chr5:g.96098030C>G (hg19) ; chr5:g.96762326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96762326C>G , CM000667.2:g.96762326C>G	GRCh38
NC_000005.9:g.96098030C>G , CM000667.1:g.96098030C>G	GRCh37
NC_000005.8:g.96123786C>G	NCBI36
NG_027839.1:g.56819G>C
NG_029490.1:g.105290C>G
NG_027839.2:g.178658G>C
NG_029490.2:g.105290C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484552.6:c.806C>G (CAST)	ENSP00000432878.2:p.Thr269Ser
ENST00000508608.6:c.1736C>G (CAST)	ENSP00000422677.2:p.Thr579Ser
ENST00000510756.6:c.1514C>G (CAST)	ENSP00000422176.2:p.Thr505Ser
ENST00000674587.1:c.1343C>G (CAST)	ENSP00000501797.1:p.Thr448Ser
ENST00000674702.1:c.1628C>G (CAST)	ENSP00000502345.1:p.Thr543Ser
ENST00000674984.1:c.1820C>G (CAST)	ENSP00000501713.1:p.Thr607Ser
ENST00000675033.1:c.1514C>G (CAST)	ENSP00000501659.1:p.Thr505Ser
ENST00000675179.1:c.1886C>G (CAST) MANE Select	ENSP00000501872.1:p.Thr629Ser
ENST00000675185.1:c.267C>G (CAST)
ENST00000675266.1:c.1788C>G (CAST)
ENST00000675267.1:c.*1510C>G (CAST)	ENSP00000502095.1:n.*1510C>G
ENST00000675275.1:c.603C>G (CAST)
ENST00000675479.1:c.1499C>G (CAST)	ENSP00000502244.1:p.Thr500Ser
ENST00000675614.1:c.1556C>G (CAST)	ENSP00000502136.1:p.Thr519Ser
ENST00000675663.1:c.1775C>G (CAST)	ENSP00000502449.1:p.Thr592Ser
ENST00000675734.1:n.430C>G (CAST)
ENST00000675858.1:c.1430C>G (CAST)	ENSP00000501780.1:p.Thr477Ser
ENST00000296754.7:c.*874G>C (ERAP1)	ENSP00000296754.3:n.*874G>C
ENST00000309190.9:c.1571C>G (CAST)	ENSP00000312523.5:p.Thr524Ser
ENST00000325674.11:c.806C>G (CAST)	ENSP00000320319.8:p.Thr269Ser
ENST00000338252.7:c.1598C>G (CAST)	ENSP00000343421.3:p.Thr533Ser
ENST00000341926.7:c.1637C>G (CAST)	ENSP00000339914.3:p.Thr546Ser
ENST00000348386.7:n.1579C>G (CAST)
ENST00000395812.6:c.1763C>G (CAST)	ENSP00000379157.2:p.Thr588Ser
ENST00000395813.5:c.1637C>G (CAST)	ENSP00000379158.2:p.Thr546Ser
ENST00000437034.6:c.892C>G (CAST)
ENST00000484552.5:c.864C>G (CAST)
ENST00000504465.5:c.1421C>G (CAST)	ENSP00000425670.1:p.Thr474Ser
ENST00000508579.5:c.782C>G (CAST)	ENSP00000425787.1:p.Thr261Ser
ENST00000508608.5:c.1775C>G (CAST)	ENSP00000422677.1:p.Thr592Ser
ENST00000508830.5:c.1886C>G (CAST)	ENSP00000425721.1:p.Thr629Ser
ENST00000509903.5:c.1532C>G (CAST)	ENSP00000426946.1:p.Thr511Ser
ENST00000510098.1:c.122C>G (CAST)	ENSP00000427195.1:p.Thr41Ser
ENST00000510156.5:c.1637C>G (CAST)	ENSP00000422325.1:p.Thr546Ser
ENST00000510500.5:c.909C>G (CAST)
ENST00000510756.5:c.1820C>G (CAST)	ENSP00000422176.1:p.Thr607Ser
ENST00000511049.5:c.1595C>G (CAST)	ENSP00000421130.1:p.Thr532Ser
ENST00000511782.5:c.1595C>G (CAST)	ENSP00000423638.1:p.Thr532Ser
ENST00000515663.5:c.806C>G (CAST)	ENSP00000422929.1:p.Thr269Ser
NM_001042440.3:c.1763C>G (CAST)	NP_001035905.1:p.Thr588Ser
NM_001190442.1:c.1598C>G (CAST)	NP_001177371.1:p.Thr533Ser
NM_001284212.1:c.1514C>G (CAST)	NP_001271141.1:p.Thr505Ser
NM_001284213.1:c.1421C>G (CAST)	NP_001271142.1:p.Thr474Ser
NM_016442.3:c.*874G>C (ERAP1)	NP_057526.3:n.*874G>C
NM_173060.3:c.1571C>G (CAST)	NP_775083.1:p.Thr524Ser
NR_104285.1:n.893C>G (CAST)
XM_006714696.2:c.1886C>G (CAST)	XP_006714759.1:p.Thr629Ser
XM_006714697.2:c.1886C>G (CAST)	XP_006714760.1:p.Thr629Ser
XM_006714698.2:c.1847C>G (CAST)	XP_006714761.1:p.Thr616Ser
XM_006714699.2:c.1841C>G (CAST)	XP_006714762.1:p.Thr614Ser
XM_006714700.2:c.1829C>G (CAST)	XP_006714763.1:p.Thr610Ser
XM_006714701.2:c.1820C>G (CAST)	XP_006714764.1:p.Thr607Ser
XM_006714702.2:c.1784C>G (CAST)	XP_006714765.1:p.Thr595Ser
XM_006714703.2:c.1781C>G (CAST)	XP_006714766.1:p.Thr594Ser
XM_006714704.2:c.1775C>G (CAST)	XP_006714767.1:p.Thr592Ser
XM_006714705.2:c.1763C>G (CAST)	XP_006714768.1:p.Thr588Ser
XM_006714706.2:c.1718C>G (CAST)	XP_006714769.1:p.Thr573Ser
XM_006714707.2:c.1637C>G (CAST)	XP_006714770.1:p.Thr546Ser
XM_006714708.2:c.1598C>G (CAST)	XP_006714771.1:p.Thr533Ser
XM_006714709.2:c.1580C>G (CAST)	XP_006714772.1:p.Thr527Ser
XM_006714710.2:c.1532C>G (CAST)	XP_006714773.1:p.Thr511Ser
XM_006714711.2:c.1514C>G (CAST)	XP_006714774.1:p.Thr505Ser
XM_006714712.2:c.1475C>G (CAST)	XP_006714775.1:p.Thr492Ser
XM_006714713.2:c.806C>G (CAST)	XP_006714776.1:p.Thr269Ser
XM_006714714.2:c.806C>G (CAST)	XP_006714777.1:p.Thr269Ser
XM_006714715.2:c.782C>G (CAST)	XP_006714778.1:p.Thr261Ser
XM_011543487.1:c.*874G>C (ERAP1)	XP_011541789.1:n.*874G>C
XM_011543654.1:c.1805C>G (CAST)	XP_011541956.1:p.Thr602Ser
XM_011543655.1:c.1802C>G (CAST)	XP_011541957.1:p.Thr601Ser
XM_011543656.1:c.1739C>G (CAST)	XP_011541958.1:p.Thr580Ser
XM_011543657.1:c.1694C>G (CAST)	XP_011541959.1:p.Thr565Ser
XM_011543658.1:c.1490C>G (CAST)	XP_011541960.1:p.Thr497Ser
NM_001042440.4:c.1763C>G (CAST)	NP_001035905.1:p.Thr588Ser
NM_001042441.2:c.1829C>G (CAST)	NP_001035906.1:p.Thr610Ser
NM_001042442.2:c.1820C>G (CAST)	NP_001035907.1:p.Thr607Ser
NM_001042443.2:c.1637C>G (CAST)	NP_001035908.1:p.Thr546Ser
NM_001042444.2:c.1514C>G (CAST)	NP_001035909.1:p.Thr505Ser
NM_001042445.2:c.1532C>G (CAST)	NP_001035910.1:p.Thr511Ser
NM_001042446.2:c.1475C>G (CAST)	NP_001035911.1:p.Thr492Ser
NM_001284212.3:c.1514C>G (CAST)	NP_001271141.1:p.Thr505Ser
NM_001284213.3:c.1421C>G (CAST)	NP_001271142.1:p.Thr474Ser
NM_001330626.1:c.1790C>G (CAST)	NP_001317555.1:p.Thr597Ser
NM_001330627.1:c.1763C>G (CAST)	NP_001317556.1:p.Thr588Ser
NM_001330628.1:c.1718C>G (CAST)	NP_001317557.1:p.Thr573Ser
NM_001330629.1:c.1802C>G (CAST)	NP_001317558.1:p.Thr601Ser
NM_001330630.1:c.1475C>G (CAST)	NP_001317559.1:p.Thr492Ser
NM_001330631.1:c.1598C>G (CAST)	NP_001317560.1:p.Thr533Ser
NM_001330632.1:c.1571C>G (CAST)	NP_001317561.1:p.Thr524Ser
NM_001330633.1:c.1580C>G (CAST)	NP_001317562.1:p.Thr527Ser
NM_001330634.1:c.1541C>G (CAST)	NP_001317563.1:p.Thr514Ser
NM_001349244.1:c.*874G>C (ERAP1)	NP_001336173.1:n.*874G>C
NM_001750.6:c.1886C>G (CAST)	NP_001741.4:p.Thr629Ser
NM_016442.4:c.*874G>C (ERAP1)	NP_057526.3:n.*874G>C
NM_173060.4:c.1571C>G (CAST)	NP_775083.1:p.Thr524Ser
XR_001742119.2:n.3859G>C (ERAP1)
NM_001042440.5:c.1763C>G (CAST)	NP_001035905.1:p.Thr588Ser
NM_001042441.3:c.1829C>G (CAST)	NP_001035906.1:p.Thr610Ser
NM_001042442.3:c.1820C>G (CAST)	NP_001035907.1:p.Thr607Ser
NM_001330626.2:c.1790C>G (CAST)	NP_001317555.1:p.Thr597Ser
NM_001330627.2:c.1763C>G (CAST)	NP_001317556.1:p.Thr588Ser
NM_001330628.2:c.1718C>G (CAST)	NP_001317557.1:p.Thr573Ser
NM_001330629.2:c.1802C>G (CAST)	NP_001317558.1:p.Thr601Ser
NM_001375317.1:c.1775C>G (CAST)	NP_001362246.1:p.Thr592Ser
NM_001750.7:c.1886C>G (CAST) MANE Select	NP_001741.4:p.Thr629Ser
NR_104285.2:n.831C>G (CAST)
NM_001042443.3:c.1637C>G (CAST)	NP_001035908.1:p.Thr546Ser
NM_001042444.3:c.1514C>G (CAST)	NP_001035909.1:p.Thr505Ser
NM_001042445.3:c.1532C>G (CAST)	NP_001035910.1:p.Thr511Ser
NM_001042446.3:c.1475C>G (CAST)	NP_001035911.1:p.Thr492Ser
NM_001190442.2:c.1598C>G (CAST)	NP_001177371.1:p.Thr533Ser
NM_001284212.4:c.1514C>G (CAST)	NP_001271141.1:p.Thr505Ser
NM_001284213.4:c.1421C>G (CAST)	NP_001271142.1:p.Thr474Ser
NM_001330630.2:c.1475C>G (CAST)	NP_001317559.1:p.Thr492Ser
NM_001330631.2:c.1598C>G (CAST)	NP_001317560.1:p.Thr533Ser
NM_001330632.2:c.1571C>G (CAST)	NP_001317561.1:p.Thr524Ser
NM_001330633.2:c.1580C>G (CAST)	NP_001317562.1:p.Thr527Ser
NM_001330634.2:c.1541C>G (CAST)	NP_001317563.1:p.Thr514Ser
NM_001349244.2:c.*874G>C (ERAP1)	NP_001336173.1:n.*874G>C
NM_016442.5:c.*874G>C (ERAP1)	NP_057526.3:n.*874G>C
NM_173060.5:c.1571C>G (CAST)	NP_775083.1:p.Thr524Ser