Canonical Allele Identifier: CA360484988

Gene: CAST ERAP1

Linked Data

• MyVariant Identifiers: chr5:g.96098041A>C (hg19) ; chr5:g.96762337A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96762337A>C , CM000667.2:g.96762337A>C	GRCh38
NC_000005.9:g.96098041A>C , CM000667.1:g.96098041A>C	GRCh37
NC_000005.8:g.96123797A>C	NCBI36
NG_027839.1:g.56808T>G
NG_029490.1:g.105301A>C
NG_027839.2:g.178647T>G
NG_029490.2:g.105301A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484552.6:c.817A>C (CAST)	ENSP00000432878.2:p.Thr273Pro
ENST00000508608.6:c.1747A>C (CAST)	ENSP00000422677.2:p.Thr583Pro
ENST00000510756.6:c.1525A>C (CAST)	ENSP00000422176.2:p.Thr509Pro
ENST00000674587.1:c.1354A>C (CAST)	ENSP00000501797.1:p.Thr452Pro
ENST00000674702.1:c.1639A>C (CAST)	ENSP00000502345.1:p.Thr547Pro
ENST00000674984.1:c.1831A>C (CAST)	ENSP00000501713.1:p.Thr611Pro
ENST00000675033.1:c.1525A>C (CAST)	ENSP00000501659.1:p.Thr509Pro
ENST00000675179.1:c.1897A>C (CAST) MANE Select	ENSP00000501872.1:p.Thr633Pro
ENST00000675185.1:c.278A>C (CAST)
ENST00000675266.1:c.1799A>C (CAST)
ENST00000675267.1:c.*1521A>C (CAST)	ENSP00000502095.1:n.*1521A>C
ENST00000675275.1:c.614A>C (CAST)
ENST00000675479.1:c.1510A>C (CAST)	ENSP00000502244.1:p.Thr504Pro
ENST00000675614.1:c.1567A>C (CAST)	ENSP00000502136.1:p.Thr523Pro
ENST00000675663.1:c.1786A>C (CAST)	ENSP00000502449.1:p.Thr596Pro
ENST00000675734.1:n.441A>C (CAST)
ENST00000675858.1:c.1441A>C (CAST)	ENSP00000501780.1:p.Thr481Pro
ENST00000296754.7:c.*863T>G (ERAP1)	ENSP00000296754.3:n.*863T>G
ENST00000309190.9:c.1582A>C (CAST)	ENSP00000312523.5:p.Thr528Pro
ENST00000325674.11:c.817A>C (CAST)	ENSP00000320319.8:p.Thr273Pro
ENST00000338252.7:c.1609A>C (CAST)	ENSP00000343421.3:p.Thr537Pro
ENST00000341926.7:c.1648A>C (CAST)	ENSP00000339914.3:p.Thr550Pro
ENST00000348386.7:n.1590A>C (CAST)
ENST00000395812.6:c.1774A>C (CAST)	ENSP00000379157.2:p.Thr592Pro
ENST00000395813.5:c.1648A>C (CAST)	ENSP00000379158.2:p.Thr550Pro
ENST00000437034.6:c.903A>C (CAST)
ENST00000484552.5:c.875A>C (CAST)
ENST00000504465.5:c.1432A>C (CAST)	ENSP00000425670.1:p.Thr478Pro
ENST00000508579.5:c.793A>C (CAST)	ENSP00000425787.1:p.Thr265Pro
ENST00000508608.5:c.1786A>C (CAST)	ENSP00000422677.1:p.Thr596Pro
ENST00000508830.5:c.1897A>C (CAST)	ENSP00000425721.1:p.Thr633Pro
ENST00000509903.5:c.1543A>C (CAST)	ENSP00000426946.1:p.Thr515Pro
ENST00000510098.1:c.133A>C (CAST)	ENSP00000427195.1:p.Thr45Pro
ENST00000510156.5:c.1648A>C (CAST)	ENSP00000422325.1:p.Thr550Pro
ENST00000510500.5:c.920A>C (CAST)
ENST00000510756.5:c.1831A>C (CAST)	ENSP00000422176.1:p.Thr611Pro
ENST00000511049.5:c.1606A>C (CAST)	ENSP00000421130.1:p.Thr536Pro
ENST00000511782.5:c.1606A>C (CAST)	ENSP00000423638.1:p.Thr536Pro
ENST00000515663.5:c.817A>C (CAST)	ENSP00000422929.1:p.Thr273Pro
NM_001042440.3:c.1774A>C (CAST)	NP_001035905.1:p.Thr592Pro
NM_001190442.1:c.1609A>C (CAST)	NP_001177371.1:p.Thr537Pro
NM_001284212.1:c.1525A>C (CAST)	NP_001271141.1:p.Thr509Pro
NM_001284213.1:c.1432A>C (CAST)	NP_001271142.1:p.Thr478Pro
NM_016442.3:c.*863T>G (ERAP1)	NP_057526.3:n.*863T>G
NM_173060.3:c.1582A>C (CAST)	NP_775083.1:p.Thr528Pro
NR_104285.1:n.904A>C (CAST)
XM_006714696.2:c.1897A>C (CAST)	XP_006714759.1:p.Thr633Pro
XM_006714697.2:c.1897A>C (CAST)	XP_006714760.1:p.Thr633Pro
XM_006714698.2:c.1858A>C (CAST)	XP_006714761.1:p.Thr620Pro
XM_006714699.2:c.1852A>C (CAST)	XP_006714762.1:p.Thr618Pro
XM_006714700.2:c.1840A>C (CAST)	XP_006714763.1:p.Thr614Pro
XM_006714701.2:c.1831A>C (CAST)	XP_006714764.1:p.Thr611Pro
XM_006714702.2:c.1795A>C (CAST)	XP_006714765.1:p.Thr599Pro
XM_006714703.2:c.1792A>C (CAST)	XP_006714766.1:p.Thr598Pro
XM_006714704.2:c.1786A>C (CAST)	XP_006714767.1:p.Thr596Pro
XM_006714705.2:c.1774A>C (CAST)	XP_006714768.1:p.Thr592Pro
XM_006714706.2:c.1729A>C (CAST)	XP_006714769.1:p.Thr577Pro
XM_006714707.2:c.1648A>C (CAST)	XP_006714770.1:p.Thr550Pro
XM_006714708.2:c.1609A>C (CAST)	XP_006714771.1:p.Thr537Pro
XM_006714709.2:c.1591A>C (CAST)	XP_006714772.1:p.Thr531Pro
XM_006714710.2:c.1543A>C (CAST)	XP_006714773.1:p.Thr515Pro
XM_006714711.2:c.1525A>C (CAST)	XP_006714774.1:p.Thr509Pro
XM_006714712.2:c.1486A>C (CAST)	XP_006714775.1:p.Thr496Pro
XM_006714713.2:c.817A>C (CAST)	XP_006714776.1:p.Thr273Pro
XM_006714714.2:c.817A>C (CAST)	XP_006714777.1:p.Thr273Pro
XM_006714715.2:c.793A>C (CAST)	XP_006714778.1:p.Thr265Pro
XM_011543487.1:c.*863T>G (ERAP1)	XP_011541789.1:n.*863T>G
XM_011543654.1:c.1816A>C (CAST)	XP_011541956.1:p.Thr606Pro
XM_011543655.1:c.1813A>C (CAST)	XP_011541957.1:p.Thr605Pro
XM_011543656.1:c.1750A>C (CAST)	XP_011541958.1:p.Thr584Pro
XM_011543657.1:c.1705A>C (CAST)	XP_011541959.1:p.Thr569Pro
XM_011543658.1:c.1501A>C (CAST)	XP_011541960.1:p.Thr501Pro
NM_001042440.4:c.1774A>C (CAST)	NP_001035905.1:p.Thr592Pro
NM_001042441.2:c.1840A>C (CAST)	NP_001035906.1:p.Thr614Pro
NM_001042442.2:c.1831A>C (CAST)	NP_001035907.1:p.Thr611Pro
NM_001042443.2:c.1648A>C (CAST)	NP_001035908.1:p.Thr550Pro
NM_001042444.2:c.1525A>C (CAST)	NP_001035909.1:p.Thr509Pro
NM_001042445.2:c.1543A>C (CAST)	NP_001035910.1:p.Thr515Pro
NM_001042446.2:c.1486A>C (CAST)	NP_001035911.1:p.Thr496Pro
NM_001284212.3:c.1525A>C (CAST)	NP_001271141.1:p.Thr509Pro
NM_001284213.3:c.1432A>C (CAST)	NP_001271142.1:p.Thr478Pro
NM_001330626.1:c.1801A>C (CAST)	NP_001317555.1:p.Thr601Pro
NM_001330627.1:c.1774A>C (CAST)	NP_001317556.1:p.Thr592Pro
NM_001330628.1:c.1729A>C (CAST)	NP_001317557.1:p.Thr577Pro
NM_001330629.1:c.1813A>C (CAST)	NP_001317558.1:p.Thr605Pro
NM_001330630.1:c.1486A>C (CAST)	NP_001317559.1:p.Thr496Pro
NM_001330631.1:c.1609A>C (CAST)	NP_001317560.1:p.Thr537Pro
NM_001330632.1:c.1582A>C (CAST)	NP_001317561.1:p.Thr528Pro
NM_001330633.1:c.1591A>C (CAST)	NP_001317562.1:p.Thr531Pro
NM_001330634.1:c.1552A>C (CAST)	NP_001317563.1:p.Thr518Pro
NM_001349244.1:c.*863T>G (ERAP1)	NP_001336173.1:n.*863T>G
NM_001750.6:c.1897A>C (CAST)	NP_001741.4:p.Thr633Pro
NM_016442.4:c.*863T>G (ERAP1)	NP_057526.3:n.*863T>G
NM_173060.4:c.1582A>C (CAST)	NP_775083.1:p.Thr528Pro
XR_001742119.2:n.3848T>G (ERAP1)
NM_001042440.5:c.1774A>C (CAST)	NP_001035905.1:p.Thr592Pro
NM_001042441.3:c.1840A>C (CAST)	NP_001035906.1:p.Thr614Pro
NM_001042442.3:c.1831A>C (CAST)	NP_001035907.1:p.Thr611Pro
NM_001330626.2:c.1801A>C (CAST)	NP_001317555.1:p.Thr601Pro
NM_001330627.2:c.1774A>C (CAST)	NP_001317556.1:p.Thr592Pro
NM_001330628.2:c.1729A>C (CAST)	NP_001317557.1:p.Thr577Pro
NM_001330629.2:c.1813A>C (CAST)	NP_001317558.1:p.Thr605Pro
NM_001375317.1:c.1786A>C (CAST)	NP_001362246.1:p.Thr596Pro
NM_001750.7:c.1897A>C (CAST) MANE Select	NP_001741.4:p.Thr633Pro
NR_104285.2:n.842A>C (CAST)
NM_001042443.3:c.1648A>C (CAST)	NP_001035908.1:p.Thr550Pro
NM_001042444.3:c.1525A>C (CAST)	NP_001035909.1:p.Thr509Pro
NM_001042445.3:c.1543A>C (CAST)	NP_001035910.1:p.Thr515Pro
NM_001042446.3:c.1486A>C (CAST)	NP_001035911.1:p.Thr496Pro
NM_001190442.2:c.1609A>C (CAST)	NP_001177371.1:p.Thr537Pro
NM_001284212.4:c.1525A>C (CAST)	NP_001271141.1:p.Thr509Pro
NM_001284213.4:c.1432A>C (CAST)	NP_001271142.1:p.Thr478Pro
NM_001330630.2:c.1486A>C (CAST)	NP_001317559.1:p.Thr496Pro
NM_001330631.2:c.1609A>C (CAST)	NP_001317560.1:p.Thr537Pro
NM_001330632.2:c.1582A>C (CAST)	NP_001317561.1:p.Thr528Pro
NM_001330633.2:c.1591A>C (CAST)	NP_001317562.1:p.Thr531Pro
NM_001330634.2:c.1552A>C (CAST)	NP_001317563.1:p.Thr518Pro
NM_001349244.2:c.*863T>G (ERAP1)	NP_001336173.1:n.*863T>G
NM_016442.5:c.*863T>G (ERAP1)	NP_057526.3:n.*863T>G
NM_173060.5:c.1582A>C (CAST)	NP_775083.1:p.Thr528Pro