Canonical Allele Identifier: CA360485019

Gene: CAST ERAP1

Linked Data

• MyVariant Identifiers: chr5:g.96098057C>A (hg19) ; chr5:g.96762353C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96762353C>A , CM000667.2:g.96762353C>A	GRCh38
NC_000005.9:g.96098057C>A , CM000667.1:g.96098057C>A	GRCh37
NC_000005.8:g.96123813C>A	NCBI36
NG_027839.1:g.56792G>T
NG_029490.1:g.105317C>A
NG_027839.2:g.178631G>T
NG_029490.2:g.105317C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484552.6:c.833C>A (CAST)	ENSP00000432878.2:p.Ala278Asp
ENST00000508608.6:c.1763C>A (CAST)	ENSP00000422677.2:p.Ala588Asp
ENST00000510756.6:c.1541C>A (CAST)	ENSP00000422176.2:p.Ala514Asp
ENST00000674587.1:c.1370C>A (CAST)	ENSP00000501797.1:p.Ala457Asp
ENST00000674702.1:c.1655C>A (CAST)	ENSP00000502345.1:p.Ala552Asp
ENST00000674984.1:c.1847C>A (CAST)	ENSP00000501713.1:p.Ala616Asp
ENST00000675033.1:c.1541C>A (CAST)	ENSP00000501659.1:p.Ala514Asp
ENST00000675179.1:c.1913C>A (CAST) MANE Select	ENSP00000501872.1:p.Ala638Asp
ENST00000675185.1:c.294C>A (CAST)
ENST00000675266.1:c.1815C>A (CAST)
ENST00000675267.1:c.*1537C>A (CAST)	ENSP00000502095.1:n.*1537C>A
ENST00000675275.1:c.630C>A (CAST)
ENST00000675479.1:c.1526C>A (CAST)	ENSP00000502244.1:p.Ala509Asp
ENST00000675614.1:c.1583C>A (CAST)	ENSP00000502136.1:p.Ala528Asp
ENST00000675663.1:c.1802C>A (CAST)	ENSP00000502449.1:p.Ala601Asp
ENST00000675734.1:n.457C>A (CAST)
ENST00000675858.1:c.1457C>A (CAST)	ENSP00000501780.1:p.Ala486Asp
ENST00000296754.7:c.*847G>T (ERAP1)	ENSP00000296754.3:n.*847G>T
ENST00000309190.9:c.1598C>A (CAST)	ENSP00000312523.5:p.Ala533Asp
ENST00000325674.11:c.833C>A (CAST)	ENSP00000320319.8:p.Ala278Asp
ENST00000338252.7:c.1625C>A (CAST)	ENSP00000343421.3:p.Ala542Asp
ENST00000341926.7:c.1664C>A (CAST)	ENSP00000339914.3:p.Ala555Asp
ENST00000348386.7:n.1606C>A (CAST)
ENST00000395812.6:c.1790C>A (CAST)	ENSP00000379157.2:p.Ala597Asp
ENST00000395813.5:c.1664C>A (CAST)	ENSP00000379158.2:p.Ala555Asp
ENST00000437034.6:c.919C>A (CAST)
ENST00000484552.5:c.891C>A (CAST)
ENST00000504465.5:c.1448C>A (CAST)	ENSP00000425670.1:p.Ala483Asp
ENST00000508579.5:c.809C>A (CAST)	ENSP00000425787.1:p.Ala270Asp
ENST00000508608.5:c.1802C>A (CAST)	ENSP00000422677.1:p.Ala601Asp
ENST00000508830.5:c.1913C>A (CAST)	ENSP00000425721.1:p.Ala638Asp
ENST00000509903.5:c.1559C>A (CAST)	ENSP00000426946.1:p.Ala520Asp
ENST00000510098.1:c.149C>A (CAST)	ENSP00000427195.1:p.Ala50Asp
ENST00000510156.5:c.1664C>A (CAST)	ENSP00000422325.1:p.Ala555Asp
ENST00000510500.5:c.936C>A (CAST)
ENST00000510756.5:c.1847C>A (CAST)	ENSP00000422176.1:p.Ala616Asp
ENST00000511049.5:c.1622C>A (CAST)	ENSP00000421130.1:p.Ala541Asp
ENST00000511782.5:c.1622C>A (CAST)	ENSP00000423638.1:p.Ala541Asp
ENST00000515663.5:c.833C>A (CAST)	ENSP00000422929.1:p.Ala278Asp
NM_001042440.3:c.1790C>A (CAST)	NP_001035905.1:p.Ala597Asp
NM_001190442.1:c.1625C>A (CAST)	NP_001177371.1:p.Ala542Asp
NM_001284212.1:c.1541C>A (CAST)	NP_001271141.1:p.Ala514Asp
NM_001284213.1:c.1448C>A (CAST)	NP_001271142.1:p.Ala483Asp
NM_016442.3:c.*847G>T (ERAP1)	NP_057526.3:n.*847G>T
NM_173060.3:c.1598C>A (CAST)	NP_775083.1:p.Ala533Asp
NR_104285.1:n.920C>A (CAST)
XM_006714696.2:c.1913C>A (CAST)	XP_006714759.1:p.Ala638Asp
XM_006714697.2:c.1913C>A (CAST)	XP_006714760.1:p.Ala638Asp
XM_006714698.2:c.1874C>A (CAST)	XP_006714761.1:p.Ala625Asp
XM_006714699.2:c.1868C>A (CAST)	XP_006714762.1:p.Ala623Asp
XM_006714700.2:c.1856C>A (CAST)	XP_006714763.1:p.Ala619Asp
XM_006714701.2:c.1847C>A (CAST)	XP_006714764.1:p.Ala616Asp
XM_006714702.2:c.1811C>A (CAST)	XP_006714765.1:p.Ala604Asp
XM_006714703.2:c.1808C>A (CAST)	XP_006714766.1:p.Ala603Asp
XM_006714704.2:c.1802C>A (CAST)	XP_006714767.1:p.Ala601Asp
XM_006714705.2:c.1790C>A (CAST)	XP_006714768.1:p.Ala597Asp
XM_006714706.2:c.1745C>A (CAST)	XP_006714769.1:p.Ala582Asp
XM_006714707.2:c.1664C>A (CAST)	XP_006714770.1:p.Ala555Asp
XM_006714708.2:c.1625C>A (CAST)	XP_006714771.1:p.Ala542Asp
XM_006714709.2:c.1607C>A (CAST)	XP_006714772.1:p.Ala536Asp
XM_006714710.2:c.1559C>A (CAST)	XP_006714773.1:p.Ala520Asp
XM_006714711.2:c.1541C>A (CAST)	XP_006714774.1:p.Ala514Asp
XM_006714712.2:c.1502C>A (CAST)	XP_006714775.1:p.Ala501Asp
XM_006714713.2:c.833C>A (CAST)	XP_006714776.1:p.Ala278Asp
XM_006714714.2:c.833C>A (CAST)	XP_006714777.1:p.Ala278Asp
XM_006714715.2:c.809C>A (CAST)	XP_006714778.1:p.Ala270Asp
XM_011543487.1:c.*847G>T (ERAP1)	XP_011541789.1:n.*847G>T
XM_011543654.1:c.1832C>A (CAST)	XP_011541956.1:p.Ala611Asp
XM_011543655.1:c.1829C>A (CAST)	XP_011541957.1:p.Ala610Asp
XM_011543656.1:c.1766C>A (CAST)	XP_011541958.1:p.Ala589Asp
XM_011543657.1:c.1721C>A (CAST)	XP_011541959.1:p.Ala574Asp
XM_011543658.1:c.1517C>A (CAST)	XP_011541960.1:p.Ala506Asp
NM_001042440.4:c.1790C>A (CAST)	NP_001035905.1:p.Ala597Asp
NM_001042441.2:c.1856C>A (CAST)	NP_001035906.1:p.Ala619Asp
NM_001042442.2:c.1847C>A (CAST)	NP_001035907.1:p.Ala616Asp
NM_001042443.2:c.1664C>A (CAST)	NP_001035908.1:p.Ala555Asp
NM_001042444.2:c.1541C>A (CAST)	NP_001035909.1:p.Ala514Asp
NM_001042445.2:c.1559C>A (CAST)	NP_001035910.1:p.Ala520Asp
NM_001042446.2:c.1502C>A (CAST)	NP_001035911.1:p.Ala501Asp
NM_001284212.3:c.1541C>A (CAST)	NP_001271141.1:p.Ala514Asp
NM_001284213.3:c.1448C>A (CAST)	NP_001271142.1:p.Ala483Asp
NM_001330626.1:c.1817C>A (CAST)	NP_001317555.1:p.Ala606Asp
NM_001330627.1:c.1790C>A (CAST)	NP_001317556.1:p.Ala597Asp
NM_001330628.1:c.1745C>A (CAST)	NP_001317557.1:p.Ala582Asp
NM_001330629.1:c.1829C>A (CAST)	NP_001317558.1:p.Ala610Asp
NM_001330630.1:c.1502C>A (CAST)	NP_001317559.1:p.Ala501Asp
NM_001330631.1:c.1625C>A (CAST)	NP_001317560.1:p.Ala542Asp
NM_001330632.1:c.1598C>A (CAST)	NP_001317561.1:p.Ala533Asp
NM_001330633.1:c.1607C>A (CAST)	NP_001317562.1:p.Ala536Asp
NM_001330634.1:c.1568C>A (CAST)	NP_001317563.1:p.Ala523Asp
NM_001349244.1:c.*847G>T (ERAP1)	NP_001336173.1:n.*847G>T
NM_001750.6:c.1913C>A (CAST)	NP_001741.4:p.Ala638Asp
NM_016442.4:c.*847G>T (ERAP1)	NP_057526.3:n.*847G>T
NM_173060.4:c.1598C>A (CAST)	NP_775083.1:p.Ala533Asp
XR_001742119.2:n.3832G>T (ERAP1)
NM_001042440.5:c.1790C>A (CAST)	NP_001035905.1:p.Ala597Asp
NM_001042441.3:c.1856C>A (CAST)	NP_001035906.1:p.Ala619Asp
NM_001042442.3:c.1847C>A (CAST)	NP_001035907.1:p.Ala616Asp
NM_001330626.2:c.1817C>A (CAST)	NP_001317555.1:p.Ala606Asp
NM_001330627.2:c.1790C>A (CAST)	NP_001317556.1:p.Ala597Asp
NM_001330628.2:c.1745C>A (CAST)	NP_001317557.1:p.Ala582Asp
NM_001330629.2:c.1829C>A (CAST)	NP_001317558.1:p.Ala610Asp
NM_001375317.1:c.1802C>A (CAST)	NP_001362246.1:p.Ala601Asp
NM_001750.7:c.1913C>A (CAST) MANE Select	NP_001741.4:p.Ala638Asp
NR_104285.2:n.858C>A (CAST)
NM_001042443.3:c.1664C>A (CAST)	NP_001035908.1:p.Ala555Asp
NM_001042444.3:c.1541C>A (CAST)	NP_001035909.1:p.Ala514Asp
NM_001042445.3:c.1559C>A (CAST)	NP_001035910.1:p.Ala520Asp
NM_001042446.3:c.1502C>A (CAST)	NP_001035911.1:p.Ala501Asp
NM_001190442.2:c.1625C>A (CAST)	NP_001177371.1:p.Ala542Asp
NM_001284212.4:c.1541C>A (CAST)	NP_001271141.1:p.Ala514Asp
NM_001284213.4:c.1448C>A (CAST)	NP_001271142.1:p.Ala483Asp
NM_001330630.2:c.1502C>A (CAST)	NP_001317559.1:p.Ala501Asp
NM_001330631.2:c.1625C>A (CAST)	NP_001317560.1:p.Ala542Asp
NM_001330632.2:c.1598C>A (CAST)	NP_001317561.1:p.Ala533Asp
NM_001330633.2:c.1607C>A (CAST)	NP_001317562.1:p.Ala536Asp
NM_001330634.2:c.1568C>A (CAST)	NP_001317563.1:p.Ala523Asp
NM_001349244.2:c.*847G>T (ERAP1)	NP_001336173.1:n.*847G>T
NM_016442.5:c.*847G>T (ERAP1)	NP_057526.3:n.*847G>T
NM_173060.5:c.1598C>A (CAST)	NP_775083.1:p.Ala533Asp