Canonical Allele Identifier: CA360484871

Gene: CAST ERAP1

Linked Data

• MyVariant Identifiers: chr5:g.96097983T>A (hg19) ; chr5:g.96762279T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96762279T>A , CM000667.2:g.96762279T>A	GRCh38
NC_000005.9:g.96097983T>A , CM000667.1:g.96097983T>A	GRCh37
NC_000005.8:g.96123739T>A	NCBI36
NG_027839.1:g.56866A>T
NG_029490.1:g.105243T>A
NG_027839.2:g.178705A>T
NG_029490.2:g.105243T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484552.6:c.759T>A (CAST)	ENSP00000432878.2:p.Phe253Leu
ENST00000508608.6:c.1689T>A (CAST)	ENSP00000422677.2:p.Phe563Leu
ENST00000510756.6:c.1467T>A (CAST)	ENSP00000422176.2:p.Phe489Leu
ENST00000674587.1:c.1296T>A (CAST)	ENSP00000501797.1:p.Phe432Leu
ENST00000674702.1:c.1581T>A (CAST)	ENSP00000502345.1:p.Phe527Leu
ENST00000674984.1:c.1773T>A (CAST)	ENSP00000501713.1:p.Phe591Leu
ENST00000675033.1:c.1467T>A (CAST)	ENSP00000501659.1:p.Phe489Leu
ENST00000675179.1:c.1839T>A (CAST) MANE Select	ENSP00000501872.1:p.Phe613Leu
ENST00000675185.1:c.220T>A (CAST)
ENST00000675266.1:c.1741T>A (CAST)
ENST00000675267.1:c.*1463T>A (CAST)	ENSP00000502095.1:n.*1463T>A
ENST00000675275.1:c.556T>A (CAST)
ENST00000675479.1:c.1452T>A (CAST)	ENSP00000502244.1:p.Phe484Leu
ENST00000675614.1:c.1509T>A (CAST)	ENSP00000502136.1:p.Phe503Leu
ENST00000675663.1:c.1728T>A (CAST)	ENSP00000502449.1:p.Phe576Leu
ENST00000675734.1:n.383T>A (CAST)
ENST00000675858.1:c.1383T>A (CAST)	ENSP00000501780.1:p.Phe461Leu
ENST00000296754.7:c.*921A>T (ERAP1)	ENSP00000296754.3:n.*921A>T
ENST00000309190.9:c.1524T>A (CAST)	ENSP00000312523.5:p.Phe508Leu
ENST00000325674.11:c.759T>A (CAST)	ENSP00000320319.8:p.Phe253Leu
ENST00000338252.7:c.1551T>A (CAST)	ENSP00000343421.3:p.Phe517Leu
ENST00000341926.7:c.1590T>A (CAST)	ENSP00000339914.3:p.Phe530Leu
ENST00000348386.7:n.1532T>A (CAST)
ENST00000395812.6:c.1716T>A (CAST)	ENSP00000379157.2:p.Phe572Leu
ENST00000395813.5:c.1590T>A (CAST)	ENSP00000379158.2:p.Phe530Leu
ENST00000437034.6:c.845T>A (CAST)
ENST00000484552.5:c.817T>A (CAST)
ENST00000504465.5:c.1374T>A (CAST)	ENSP00000425670.1:p.Phe458Leu
ENST00000508579.5:c.735T>A (CAST)	ENSP00000425787.1:p.Phe245Leu
ENST00000508608.5:c.1728T>A (CAST)	ENSP00000422677.1:p.Phe576Leu
ENST00000508830.5:c.1839T>A (CAST)	ENSP00000425721.1:p.Phe613Leu
ENST00000509903.5:c.1485T>A (CAST)	ENSP00000426946.1:p.Phe495Leu
ENST00000510098.1:c.75T>A (CAST)	ENSP00000427195.1:p.Phe25Leu
ENST00000510156.5:c.1590T>A (CAST)	ENSP00000422325.1:p.Phe530Leu
ENST00000510500.5:c.862T>A (CAST)
ENST00000510756.5:c.1773T>A (CAST)	ENSP00000422176.1:p.Phe591Leu
ENST00000511049.5:c.1548T>A (CAST)	ENSP00000421130.1:p.Phe516Leu
ENST00000511782.5:c.1548T>A (CAST)	ENSP00000423638.1:p.Phe516Leu
ENST00000515663.5:c.759T>A (CAST)	ENSP00000422929.1:p.Phe253Leu
NM_001042440.3:c.1716T>A (CAST)	NP_001035905.1:p.Phe572Leu
NM_001190442.1:c.1551T>A (CAST)	NP_001177371.1:p.Phe517Leu
NM_001284212.1:c.1467T>A (CAST)	NP_001271141.1:p.Phe489Leu
NM_001284213.1:c.1374T>A (CAST)	NP_001271142.1:p.Phe458Leu
NM_016442.3:c.*921A>T (ERAP1)	NP_057526.3:n.*921A>T
NM_173060.3:c.1524T>A (CAST)	NP_775083.1:p.Phe508Leu
NR_104285.1:n.846T>A (CAST)
XM_006714696.2:c.1839T>A (CAST)	XP_006714759.1:p.Phe613Leu
XM_006714697.2:c.1839T>A (CAST)	XP_006714760.1:p.Phe613Leu
XM_006714698.2:c.1800T>A (CAST)	XP_006714761.1:p.Phe600Leu
XM_006714699.2:c.1794T>A (CAST)	XP_006714762.1:p.Phe598Leu
XM_006714700.2:c.1782T>A (CAST)	XP_006714763.1:p.Phe594Leu
XM_006714701.2:c.1773T>A (CAST)	XP_006714764.1:p.Phe591Leu
XM_006714702.2:c.1737T>A (CAST)	XP_006714765.1:p.Phe579Leu
XM_006714703.2:c.1734T>A (CAST)	XP_006714766.1:p.Phe578Leu
XM_006714704.2:c.1728T>A (CAST)	XP_006714767.1:p.Phe576Leu
XM_006714705.2:c.1716T>A (CAST)	XP_006714768.1:p.Phe572Leu
XM_006714706.2:c.1671T>A (CAST)	XP_006714769.1:p.Phe557Leu
XM_006714707.2:c.1590T>A (CAST)	XP_006714770.1:p.Phe530Leu
XM_006714708.2:c.1551T>A (CAST)	XP_006714771.1:p.Phe517Leu
XM_006714709.2:c.1533T>A (CAST)	XP_006714772.1:p.Phe511Leu
XM_006714710.2:c.1485T>A (CAST)	XP_006714773.1:p.Phe495Leu
XM_006714711.2:c.1467T>A (CAST)	XP_006714774.1:p.Phe489Leu
XM_006714712.2:c.1428T>A (CAST)	XP_006714775.1:p.Phe476Leu
XM_006714713.2:c.759T>A (CAST)	XP_006714776.1:p.Phe253Leu
XM_006714714.2:c.759T>A (CAST)	XP_006714777.1:p.Phe253Leu
XM_006714715.2:c.735T>A (CAST)	XP_006714778.1:p.Phe245Leu
XM_011543487.1:c.*921A>T (ERAP1)	XP_011541789.1:n.*921A>T
XM_011543654.1:c.1758T>A (CAST)	XP_011541956.1:p.Phe586Leu
XM_011543655.1:c.1755T>A (CAST)	XP_011541957.1:p.Phe585Leu
XM_011543656.1:c.1692T>A (CAST)	XP_011541958.1:p.Phe564Leu
XM_011543657.1:c.1647T>A (CAST)	XP_011541959.1:p.Phe549Leu
XM_011543658.1:c.1443T>A (CAST)	XP_011541960.1:p.Phe481Leu
NM_001042440.4:c.1716T>A (CAST)	NP_001035905.1:p.Phe572Leu
NM_001042441.2:c.1782T>A (CAST)	NP_001035906.1:p.Phe594Leu
NM_001042442.2:c.1773T>A (CAST)	NP_001035907.1:p.Phe591Leu
NM_001042443.2:c.1590T>A (CAST)	NP_001035908.1:p.Phe530Leu
NM_001042444.2:c.1467T>A (CAST)	NP_001035909.1:p.Phe489Leu
NM_001042445.2:c.1485T>A (CAST)	NP_001035910.1:p.Phe495Leu
NM_001042446.2:c.1428T>A (CAST)	NP_001035911.1:p.Phe476Leu
NM_001284212.3:c.1467T>A (CAST)	NP_001271141.1:p.Phe489Leu
NM_001284213.3:c.1374T>A (CAST)	NP_001271142.1:p.Phe458Leu
NM_001330626.1:c.1743T>A (CAST)	NP_001317555.1:p.Phe581Leu
NM_001330627.1:c.1716T>A (CAST)	NP_001317556.1:p.Phe572Leu
NM_001330628.1:c.1671T>A (CAST)	NP_001317557.1:p.Phe557Leu
NM_001330629.1:c.1755T>A (CAST)	NP_001317558.1:p.Phe585Leu
NM_001330630.1:c.1428T>A (CAST)	NP_001317559.1:p.Phe476Leu
NM_001330631.1:c.1551T>A (CAST)	NP_001317560.1:p.Phe517Leu
NM_001330632.1:c.1524T>A (CAST)	NP_001317561.1:p.Phe508Leu
NM_001330633.1:c.1533T>A (CAST)	NP_001317562.1:p.Phe511Leu
NM_001330634.1:c.1494T>A (CAST)	NP_001317563.1:p.Phe498Leu
NM_001349244.1:c.*921A>T (ERAP1)	NP_001336173.1:n.*921A>T
NM_001750.6:c.1839T>A (CAST)	NP_001741.4:p.Phe613Leu
NM_016442.4:c.*921A>T (ERAP1)	NP_057526.3:n.*921A>T
NM_173060.4:c.1524T>A (CAST)	NP_775083.1:p.Phe508Leu
XR_001742119.2:n.3906A>T (ERAP1)
NM_001042440.5:c.1716T>A (CAST)	NP_001035905.1:p.Phe572Leu
NM_001042441.3:c.1782T>A (CAST)	NP_001035906.1:p.Phe594Leu
NM_001042442.3:c.1773T>A (CAST)	NP_001035907.1:p.Phe591Leu
NM_001330626.2:c.1743T>A (CAST)	NP_001317555.1:p.Phe581Leu
NM_001330627.2:c.1716T>A (CAST)	NP_001317556.1:p.Phe572Leu
NM_001330628.2:c.1671T>A (CAST)	NP_001317557.1:p.Phe557Leu
NM_001330629.2:c.1755T>A (CAST)	NP_001317558.1:p.Phe585Leu
NM_001375317.1:c.1728T>A (CAST)	NP_001362246.1:p.Phe576Leu
NM_001750.7:c.1839T>A (CAST) MANE Select	NP_001741.4:p.Phe613Leu
NR_104285.2:n.784T>A (CAST)
NM_001042443.3:c.1590T>A (CAST)	NP_001035908.1:p.Phe530Leu
NM_001042444.3:c.1467T>A (CAST)	NP_001035909.1:p.Phe489Leu
NM_001042445.3:c.1485T>A (CAST)	NP_001035910.1:p.Phe495Leu
NM_001042446.3:c.1428T>A (CAST)	NP_001035911.1:p.Phe476Leu
NM_001190442.2:c.1551T>A (CAST)	NP_001177371.1:p.Phe517Leu
NM_001284212.4:c.1467T>A (CAST)	NP_001271141.1:p.Phe489Leu
NM_001284213.4:c.1374T>A (CAST)	NP_001271142.1:p.Phe458Leu
NM_001330630.2:c.1428T>A (CAST)	NP_001317559.1:p.Phe476Leu
NM_001330631.2:c.1551T>A (CAST)	NP_001317560.1:p.Phe517Leu
NM_001330632.2:c.1524T>A (CAST)	NP_001317561.1:p.Phe508Leu
NM_001330633.2:c.1533T>A (CAST)	NP_001317562.1:p.Phe511Leu
NM_001330634.2:c.1494T>A (CAST)	NP_001317563.1:p.Phe498Leu
NM_001349244.2:c.*921A>T (ERAP1)	NP_001336173.1:n.*921A>T
NM_016442.5:c.*921A>T (ERAP1)	NP_057526.3:n.*921A>T
NM_173060.5:c.1524T>A (CAST)	NP_775083.1:p.Phe508Leu