Canonical Allele Identifier: CA360484897

Gene: CAST ERAP1

Linked Data

• MyVariant Identifiers: chr5:g.96097994A>G (hg19) ; chr5:g.96762290A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96762290A>G , CM000667.2:g.96762290A>G	GRCh38
NC_000005.9:g.96097994A>G , CM000667.1:g.96097994A>G	GRCh37
NC_000005.8:g.96123750A>G	NCBI36
NG_027839.1:g.56855T>C
NG_029490.1:g.105254A>G
NG_027839.2:g.178694T>C
NG_029490.2:g.105254A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484552.6:c.770A>G (CAST)	ENSP00000432878.2:p.Lys257Arg
ENST00000508608.6:c.1700A>G (CAST)	ENSP00000422677.2:p.Lys567Arg
ENST00000510756.6:c.1478A>G (CAST)	ENSP00000422176.2:p.Lys493Arg
ENST00000674587.1:c.1307A>G (CAST)	ENSP00000501797.1:p.Lys436Arg
ENST00000674702.1:c.1592A>G (CAST)	ENSP00000502345.1:p.Lys531Arg
ENST00000674984.1:c.1784A>G (CAST)	ENSP00000501713.1:p.Lys595Arg
ENST00000675033.1:c.1478A>G (CAST)	ENSP00000501659.1:p.Lys493Arg
ENST00000675179.1:c.1850A>G (CAST) MANE Select	ENSP00000501872.1:p.Lys617Arg
ENST00000675185.1:c.231A>G (CAST)
ENST00000675266.1:c.1752A>G (CAST)
ENST00000675267.1:c.*1474A>G (CAST)	ENSP00000502095.1:n.*1474A>G
ENST00000675275.1:c.567A>G (CAST)
ENST00000675479.1:c.1463A>G (CAST)	ENSP00000502244.1:p.Lys488Arg
ENST00000675614.1:c.1520A>G (CAST)	ENSP00000502136.1:p.Lys507Arg
ENST00000675663.1:c.1739A>G (CAST)	ENSP00000502449.1:p.Lys580Arg
ENST00000675734.1:n.394A>G (CAST)
ENST00000675858.1:c.1394A>G (CAST)	ENSP00000501780.1:p.Lys465Arg
ENST00000296754.7:c.*910T>C (ERAP1)	ENSP00000296754.3:n.*910T>C
ENST00000309190.9:c.1535A>G (CAST)	ENSP00000312523.5:p.Lys512Arg
ENST00000325674.11:c.770A>G (CAST)	ENSP00000320319.8:p.Lys257Arg
ENST00000338252.7:c.1562A>G (CAST)	ENSP00000343421.3:p.Lys521Arg
ENST00000341926.7:c.1601A>G (CAST)	ENSP00000339914.3:p.Lys534Arg
ENST00000348386.7:n.1543A>G (CAST)
ENST00000395812.6:c.1727A>G (CAST)	ENSP00000379157.2:p.Lys576Arg
ENST00000395813.5:c.1601A>G (CAST)	ENSP00000379158.2:p.Lys534Arg
ENST00000437034.6:c.856A>G (CAST)
ENST00000484552.5:c.828A>G (CAST)
ENST00000504465.5:c.1385A>G (CAST)	ENSP00000425670.1:p.Lys462Arg
ENST00000508579.5:c.746A>G (CAST)	ENSP00000425787.1:p.Lys249Arg
ENST00000508608.5:c.1739A>G (CAST)	ENSP00000422677.1:p.Lys580Arg
ENST00000508830.5:c.1850A>G (CAST)	ENSP00000425721.1:p.Lys617Arg
ENST00000509903.5:c.1496A>G (CAST)	ENSP00000426946.1:p.Lys499Arg
ENST00000510098.1:c.86A>G (CAST)	ENSP00000427195.1:p.Lys29Arg
ENST00000510156.5:c.1601A>G (CAST)	ENSP00000422325.1:p.Lys534Arg
ENST00000510500.5:c.873A>G (CAST)
ENST00000510756.5:c.1784A>G (CAST)	ENSP00000422176.1:p.Lys595Arg
ENST00000511049.5:c.1559A>G (CAST)	ENSP00000421130.1:p.Lys520Arg
ENST00000511782.5:c.1559A>G (CAST)	ENSP00000423638.1:p.Lys520Arg
ENST00000515663.5:c.770A>G (CAST)	ENSP00000422929.1:p.Lys257Arg
NM_001042440.3:c.1727A>G (CAST)	NP_001035905.1:p.Lys576Arg
NM_001190442.1:c.1562A>G (CAST)	NP_001177371.1:p.Lys521Arg
NM_001284212.1:c.1478A>G (CAST)	NP_001271141.1:p.Lys493Arg
NM_001284213.1:c.1385A>G (CAST)	NP_001271142.1:p.Lys462Arg
NM_016442.3:c.*910T>C (ERAP1)	NP_057526.3:n.*910T>C
NM_173060.3:c.1535A>G (CAST)	NP_775083.1:p.Lys512Arg
NR_104285.1:n.857A>G (CAST)
XM_006714696.2:c.1850A>G (CAST)	XP_006714759.1:p.Lys617Arg
XM_006714697.2:c.1850A>G (CAST)	XP_006714760.1:p.Lys617Arg
XM_006714698.2:c.1811A>G (CAST)	XP_006714761.1:p.Lys604Arg
XM_006714699.2:c.1805A>G (CAST)	XP_006714762.1:p.Lys602Arg
XM_006714700.2:c.1793A>G (CAST)	XP_006714763.1:p.Lys598Arg
XM_006714701.2:c.1784A>G (CAST)	XP_006714764.1:p.Lys595Arg
XM_006714702.2:c.1748A>G (CAST)	XP_006714765.1:p.Lys583Arg
XM_006714703.2:c.1745A>G (CAST)	XP_006714766.1:p.Lys582Arg
XM_006714704.2:c.1739A>G (CAST)	XP_006714767.1:p.Lys580Arg
XM_006714705.2:c.1727A>G (CAST)	XP_006714768.1:p.Lys576Arg
XM_006714706.2:c.1682A>G (CAST)	XP_006714769.1:p.Lys561Arg
XM_006714707.2:c.1601A>G (CAST)	XP_006714770.1:p.Lys534Arg
XM_006714708.2:c.1562A>G (CAST)	XP_006714771.1:p.Lys521Arg
XM_006714709.2:c.1544A>G (CAST)	XP_006714772.1:p.Lys515Arg
XM_006714710.2:c.1496A>G (CAST)	XP_006714773.1:p.Lys499Arg
XM_006714711.2:c.1478A>G (CAST)	XP_006714774.1:p.Lys493Arg
XM_006714712.2:c.1439A>G (CAST)	XP_006714775.1:p.Lys480Arg
XM_006714713.2:c.770A>G (CAST)	XP_006714776.1:p.Lys257Arg
XM_006714714.2:c.770A>G (CAST)	XP_006714777.1:p.Lys257Arg
XM_006714715.2:c.746A>G (CAST)	XP_006714778.1:p.Lys249Arg
XM_011543487.1:c.*910T>C (ERAP1)	XP_011541789.1:n.*910T>C
XM_011543654.1:c.1769A>G (CAST)	XP_011541956.1:p.Lys590Arg
XM_011543655.1:c.1766A>G (CAST)	XP_011541957.1:p.Lys589Arg
XM_011543656.1:c.1703A>G (CAST)	XP_011541958.1:p.Lys568Arg
XM_011543657.1:c.1658A>G (CAST)	XP_011541959.1:p.Lys553Arg
XM_011543658.1:c.1454A>G (CAST)	XP_011541960.1:p.Lys485Arg
NM_001042440.4:c.1727A>G (CAST)	NP_001035905.1:p.Lys576Arg
NM_001042441.2:c.1793A>G (CAST)	NP_001035906.1:p.Lys598Arg
NM_001042442.2:c.1784A>G (CAST)	NP_001035907.1:p.Lys595Arg
NM_001042443.2:c.1601A>G (CAST)	NP_001035908.1:p.Lys534Arg
NM_001042444.2:c.1478A>G (CAST)	NP_001035909.1:p.Lys493Arg
NM_001042445.2:c.1496A>G (CAST)	NP_001035910.1:p.Lys499Arg
NM_001042446.2:c.1439A>G (CAST)	NP_001035911.1:p.Lys480Arg
NM_001284212.3:c.1478A>G (CAST)	NP_001271141.1:p.Lys493Arg
NM_001284213.3:c.1385A>G (CAST)	NP_001271142.1:p.Lys462Arg
NM_001330626.1:c.1754A>G (CAST)	NP_001317555.1:p.Lys585Arg
NM_001330627.1:c.1727A>G (CAST)	NP_001317556.1:p.Lys576Arg
NM_001330628.1:c.1682A>G (CAST)	NP_001317557.1:p.Lys561Arg
NM_001330629.1:c.1766A>G (CAST)	NP_001317558.1:p.Lys589Arg
NM_001330630.1:c.1439A>G (CAST)	NP_001317559.1:p.Lys480Arg
NM_001330631.1:c.1562A>G (CAST)	NP_001317560.1:p.Lys521Arg
NM_001330632.1:c.1535A>G (CAST)	NP_001317561.1:p.Lys512Arg
NM_001330633.1:c.1544A>G (CAST)	NP_001317562.1:p.Lys515Arg
NM_001330634.1:c.1505A>G (CAST)	NP_001317563.1:p.Lys502Arg
NM_001349244.1:c.*910T>C (ERAP1)	NP_001336173.1:n.*910T>C
NM_001750.6:c.1850A>G (CAST)	NP_001741.4:p.Lys617Arg
NM_016442.4:c.*910T>C (ERAP1)	NP_057526.3:n.*910T>C
NM_173060.4:c.1535A>G (CAST)	NP_775083.1:p.Lys512Arg
XR_001742119.2:n.3895T>C (ERAP1)
NM_001042440.5:c.1727A>G (CAST)	NP_001035905.1:p.Lys576Arg
NM_001042441.3:c.1793A>G (CAST)	NP_001035906.1:p.Lys598Arg
NM_001042442.3:c.1784A>G (CAST)	NP_001035907.1:p.Lys595Arg
NM_001330626.2:c.1754A>G (CAST)	NP_001317555.1:p.Lys585Arg
NM_001330627.2:c.1727A>G (CAST)	NP_001317556.1:p.Lys576Arg
NM_001330628.2:c.1682A>G (CAST)	NP_001317557.1:p.Lys561Arg
NM_001330629.2:c.1766A>G (CAST)	NP_001317558.1:p.Lys589Arg
NM_001375317.1:c.1739A>G (CAST)	NP_001362246.1:p.Lys580Arg
NM_001750.7:c.1850A>G (CAST) MANE Select	NP_001741.4:p.Lys617Arg
NR_104285.2:n.795A>G (CAST)
NM_001042443.3:c.1601A>G (CAST)	NP_001035908.1:p.Lys534Arg
NM_001042444.3:c.1478A>G (CAST)	NP_001035909.1:p.Lys493Arg
NM_001042445.3:c.1496A>G (CAST)	NP_001035910.1:p.Lys499Arg
NM_001042446.3:c.1439A>G (CAST)	NP_001035911.1:p.Lys480Arg
NM_001190442.2:c.1562A>G (CAST)	NP_001177371.1:p.Lys521Arg
NM_001284212.4:c.1478A>G (CAST)	NP_001271141.1:p.Lys493Arg
NM_001284213.4:c.1385A>G (CAST)	NP_001271142.1:p.Lys462Arg
NM_001330630.2:c.1439A>G (CAST)	NP_001317559.1:p.Lys480Arg
NM_001330631.2:c.1562A>G (CAST)	NP_001317560.1:p.Lys521Arg
NM_001330632.2:c.1535A>G (CAST)	NP_001317561.1:p.Lys512Arg
NM_001330633.2:c.1544A>G (CAST)	NP_001317562.1:p.Lys515Arg
NM_001330634.2:c.1505A>G (CAST)	NP_001317563.1:p.Lys502Arg
NM_001349244.2:c.*910T>C (ERAP1)	NP_001336173.1:n.*910T>C
NM_016442.5:c.*910T>C (ERAP1)	NP_057526.3:n.*910T>C
NM_173060.5:c.1535A>G (CAST)	NP_775083.1:p.Lys512Arg