Canonical Allele Identifier: CA360484963

Gene: CAST ERAP1

Linked Data

• MyVariant Identifiers: chr5:g.96098028A>C (hg19) ; chr5:g.96762324A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96762324A>C , CM000667.2:g.96762324A>C	GRCh38
NC_000005.9:g.96098028A>C , CM000667.1:g.96098028A>C	GRCh37
NC_000005.8:g.96123784A>C	NCBI36
NG_027839.1:g.56821T>G
NG_029490.1:g.105288A>C
NG_027839.2:g.178660T>G
NG_029490.2:g.105288A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484552.6:c.804A>C (CAST)	ENSP00000432878.2:p.Gln268His
ENST00000508608.6:c.1734A>C (CAST)	ENSP00000422677.2:p.Gln578His
ENST00000510756.6:c.1512A>C (CAST)	ENSP00000422176.2:p.Gln504His
ENST00000674587.1:c.1341A>C (CAST)	ENSP00000501797.1:p.Gln447His
ENST00000674702.1:c.1626A>C (CAST)	ENSP00000502345.1:p.Gln542His
ENST00000674984.1:c.1818A>C (CAST)	ENSP00000501713.1:p.Gln606His
ENST00000675033.1:c.1512A>C (CAST)	ENSP00000501659.1:p.Gln504His
ENST00000675179.1:c.1884A>C (CAST) MANE Select	ENSP00000501872.1:p.Gln628His
ENST00000675185.1:c.265A>C (CAST)
ENST00000675266.1:c.1786A>C (CAST)
ENST00000675267.1:c.*1508A>C (CAST)	ENSP00000502095.1:n.*1508A>C
ENST00000675275.1:c.601A>C (CAST)
ENST00000675479.1:c.1497A>C (CAST)	ENSP00000502244.1:p.Gln499His
ENST00000675614.1:c.1554A>C (CAST)	ENSP00000502136.1:p.Gln518His
ENST00000675663.1:c.1773A>C (CAST)	ENSP00000502449.1:p.Gln591His
ENST00000675734.1:n.428A>C (CAST)
ENST00000675858.1:c.1428A>C (CAST)	ENSP00000501780.1:p.Gln476His
ENST00000296754.7:c.*876T>G (ERAP1)	ENSP00000296754.3:n.*876T>G
ENST00000309190.9:c.1569A>C (CAST)	ENSP00000312523.5:p.Gln523His
ENST00000325674.11:c.804A>C (CAST)	ENSP00000320319.8:p.Gln268His
ENST00000338252.7:c.1596A>C (CAST)	ENSP00000343421.3:p.Gln532His
ENST00000341926.7:c.1635A>C (CAST)	ENSP00000339914.3:p.Gln545His
ENST00000348386.7:n.1577A>C (CAST)
ENST00000395812.6:c.1761A>C (CAST)	ENSP00000379157.2:p.Gln587His
ENST00000395813.5:c.1635A>C (CAST)	ENSP00000379158.2:p.Gln545His
ENST00000437034.6:c.890A>C (CAST)
ENST00000484552.5:c.862A>C (CAST)
ENST00000504465.5:c.1419A>C (CAST)	ENSP00000425670.1:p.Gln473His
ENST00000508579.5:c.780A>C (CAST)	ENSP00000425787.1:p.Gln260His
ENST00000508608.5:c.1773A>C (CAST)	ENSP00000422677.1:p.Gln591His
ENST00000508830.5:c.1884A>C (CAST)	ENSP00000425721.1:p.Gln628His
ENST00000509903.5:c.1530A>C (CAST)	ENSP00000426946.1:p.Gln510His
ENST00000510098.1:c.120A>C (CAST)	ENSP00000427195.1:p.Gln40His
ENST00000510156.5:c.1635A>C (CAST)	ENSP00000422325.1:p.Gln545His
ENST00000510500.5:c.907A>C (CAST)
ENST00000510756.5:c.1818A>C (CAST)	ENSP00000422176.1:p.Gln606His
ENST00000511049.5:c.1593A>C (CAST)	ENSP00000421130.1:p.Gln531His
ENST00000511782.5:c.1593A>C (CAST)	ENSP00000423638.1:p.Gln531His
ENST00000515663.5:c.804A>C (CAST)	ENSP00000422929.1:p.Gln268His
NM_001042440.3:c.1761A>C (CAST)	NP_001035905.1:p.Gln587His
NM_001190442.1:c.1596A>C (CAST)	NP_001177371.1:p.Gln532His
NM_001284212.1:c.1512A>C (CAST)	NP_001271141.1:p.Gln504His
NM_001284213.1:c.1419A>C (CAST)	NP_001271142.1:p.Gln473His
NM_016442.3:c.*876T>G (ERAP1)	NP_057526.3:n.*876T>G
NM_173060.3:c.1569A>C (CAST)	NP_775083.1:p.Gln523His
NR_104285.1:n.891A>C (CAST)
XM_006714696.2:c.1884A>C (CAST)	XP_006714759.1:p.Gln628His
XM_006714697.2:c.1884A>C (CAST)	XP_006714760.1:p.Gln628His
XM_006714698.2:c.1845A>C (CAST)	XP_006714761.1:p.Gln615His
XM_006714699.2:c.1839A>C (CAST)	XP_006714762.1:p.Gln613His
XM_006714700.2:c.1827A>C (CAST)	XP_006714763.1:p.Gln609His
XM_006714701.2:c.1818A>C (CAST)	XP_006714764.1:p.Gln606His
XM_006714702.2:c.1782A>C (CAST)	XP_006714765.1:p.Gln594His
XM_006714703.2:c.1779A>C (CAST)	XP_006714766.1:p.Gln593His
XM_006714704.2:c.1773A>C (CAST)	XP_006714767.1:p.Gln591His
XM_006714705.2:c.1761A>C (CAST)	XP_006714768.1:p.Gln587His
XM_006714706.2:c.1716A>C (CAST)	XP_006714769.1:p.Gln572His
XM_006714707.2:c.1635A>C (CAST)	XP_006714770.1:p.Gln545His
XM_006714708.2:c.1596A>C (CAST)	XP_006714771.1:p.Gln532His
XM_006714709.2:c.1578A>C (CAST)	XP_006714772.1:p.Gln526His
XM_006714710.2:c.1530A>C (CAST)	XP_006714773.1:p.Gln510His
XM_006714711.2:c.1512A>C (CAST)	XP_006714774.1:p.Gln504His
XM_006714712.2:c.1473A>C (CAST)	XP_006714775.1:p.Gln491His
XM_006714713.2:c.804A>C (CAST)	XP_006714776.1:p.Gln268His
XM_006714714.2:c.804A>C (CAST)	XP_006714777.1:p.Gln268His
XM_006714715.2:c.780A>C (CAST)	XP_006714778.1:p.Gln260His
XM_011543487.1:c.*876T>G (ERAP1)	XP_011541789.1:n.*876T>G
XM_011543654.1:c.1803A>C (CAST)	XP_011541956.1:p.Gln601His
XM_011543655.1:c.1800A>C (CAST)	XP_011541957.1:p.Gln600His
XM_011543656.1:c.1737A>C (CAST)	XP_011541958.1:p.Gln579His
XM_011543657.1:c.1692A>C (CAST)	XP_011541959.1:p.Gln564His
XM_011543658.1:c.1488A>C (CAST)	XP_011541960.1:p.Gln496His
NM_001042440.4:c.1761A>C (CAST)	NP_001035905.1:p.Gln587His
NM_001042441.2:c.1827A>C (CAST)	NP_001035906.1:p.Gln609His
NM_001042442.2:c.1818A>C (CAST)	NP_001035907.1:p.Gln606His
NM_001042443.2:c.1635A>C (CAST)	NP_001035908.1:p.Gln545His
NM_001042444.2:c.1512A>C (CAST)	NP_001035909.1:p.Gln504His
NM_001042445.2:c.1530A>C (CAST)	NP_001035910.1:p.Gln510His
NM_001042446.2:c.1473A>C (CAST)	NP_001035911.1:p.Gln491His
NM_001284212.3:c.1512A>C (CAST)	NP_001271141.1:p.Gln504His
NM_001284213.3:c.1419A>C (CAST)	NP_001271142.1:p.Gln473His
NM_001330626.1:c.1788A>C (CAST)	NP_001317555.1:p.Gln596His
NM_001330627.1:c.1761A>C (CAST)	NP_001317556.1:p.Gln587His
NM_001330628.1:c.1716A>C (CAST)	NP_001317557.1:p.Gln572His
NM_001330629.1:c.1800A>C (CAST)	NP_001317558.1:p.Gln600His
NM_001330630.1:c.1473A>C (CAST)	NP_001317559.1:p.Gln491His
NM_001330631.1:c.1596A>C (CAST)	NP_001317560.1:p.Gln532His
NM_001330632.1:c.1569A>C (CAST)	NP_001317561.1:p.Gln523His
NM_001330633.1:c.1578A>C (CAST)	NP_001317562.1:p.Gln526His
NM_001330634.1:c.1539A>C (CAST)	NP_001317563.1:p.Gln513His
NM_001349244.1:c.*876T>G (ERAP1)	NP_001336173.1:n.*876T>G
NM_001750.6:c.1884A>C (CAST)	NP_001741.4:p.Gln628His
NM_016442.4:c.*876T>G (ERAP1)	NP_057526.3:n.*876T>G
NM_173060.4:c.1569A>C (CAST)	NP_775083.1:p.Gln523His
XR_001742119.2:n.3861T>G (ERAP1)
NM_001042440.5:c.1761A>C (CAST)	NP_001035905.1:p.Gln587His
NM_001042441.3:c.1827A>C (CAST)	NP_001035906.1:p.Gln609His
NM_001042442.3:c.1818A>C (CAST)	NP_001035907.1:p.Gln606His
NM_001330626.2:c.1788A>C (CAST)	NP_001317555.1:p.Gln596His
NM_001330627.2:c.1761A>C (CAST)	NP_001317556.1:p.Gln587His
NM_001330628.2:c.1716A>C (CAST)	NP_001317557.1:p.Gln572His
NM_001330629.2:c.1800A>C (CAST)	NP_001317558.1:p.Gln600His
NM_001375317.1:c.1773A>C (CAST)	NP_001362246.1:p.Gln591His
NM_001750.7:c.1884A>C (CAST) MANE Select	NP_001741.4:p.Gln628His
NR_104285.2:n.829A>C (CAST)
NM_001042443.3:c.1635A>C (CAST)	NP_001035908.1:p.Gln545His
NM_001042444.3:c.1512A>C (CAST)	NP_001035909.1:p.Gln504His
NM_001042445.3:c.1530A>C (CAST)	NP_001035910.1:p.Gln510His
NM_001042446.3:c.1473A>C (CAST)	NP_001035911.1:p.Gln491His
NM_001190442.2:c.1596A>C (CAST)	NP_001177371.1:p.Gln532His
NM_001284212.4:c.1512A>C (CAST)	NP_001271141.1:p.Gln504His
NM_001284213.4:c.1419A>C (CAST)	NP_001271142.1:p.Gln473His
NM_001330630.2:c.1473A>C (CAST)	NP_001317559.1:p.Gln491His
NM_001330631.2:c.1596A>C (CAST)	NP_001317560.1:p.Gln532His
NM_001330632.2:c.1569A>C (CAST)	NP_001317561.1:p.Gln523His
NM_001330633.2:c.1578A>C (CAST)	NP_001317562.1:p.Gln526His
NM_001330634.2:c.1539A>C (CAST)	NP_001317563.1:p.Gln513His
NM_001349244.2:c.*876T>G (ERAP1)	NP_001336173.1:n.*876T>G
NM_016442.5:c.*876T>G (ERAP1)	NP_057526.3:n.*876T>G
NM_173060.5:c.1569A>C (CAST)	NP_775083.1:p.Gln523His