Canonical Allele Identifier: CA3351674

Gene: CAST ERAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96767912T>G , CM000667.2:g.96767912T>G	GRCh38
NC_000005.9:g.96103616T>G , CM000667.1:g.96103616T>G	GRCh37
NC_000005.8:g.96129372T>G	NCBI36
NG_027839.1:g.51233A>C
NG_029490.1:g.110876T>G
NG_027839.2:g.173072A>C
NG_029490.2:g.110876T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001750.7:c.2181T>G (CAST) MANE Select	NP_001741.4:p.Pro727=
ENST00000675179.1:c.2181T>G (CAST) MANE Select	ENSP00000501872.1:p.Pro727=
NM_001042440.3:c.2058T>G (CAST)	NP_001035905.1:p.Pro686=
NM_001042440.4:c.2058T>G (CAST)	NP_001035905.1:p.Pro686=
NM_001042440.5:c.2058T>G (CAST)	NP_001035905.1:p.Pro686=
NM_001042441.2:c.2124T>G (CAST)	NP_001035906.1:p.Pro708=
NM_001042441.3:c.2124T>G (CAST)	NP_001035906.1:p.Pro708=
NM_001042442.2:c.2115T>G (CAST)	NP_001035907.1:p.Pro705=
NM_001042442.3:c.2115T>G (CAST)	NP_001035907.1:p.Pro705=
NM_001042443.2:c.1932T>G (CAST)	NP_001035908.1:p.Pro644=
NM_001042443.3:c.1932T>G (CAST)	NP_001035908.1:p.Pro644=
NM_001042444.2:c.1809T>G (CAST)	NP_001035909.1:p.Pro603=
NM_001042444.3:c.1809T>G (CAST)	NP_001035909.1:p.Pro603=
NM_001042445.2:c.1827T>G (CAST)	NP_001035910.1:p.Pro609=
NM_001042445.3:c.1827T>G (CAST)	NP_001035910.1:p.Pro609=
NM_001042446.2:c.1770T>G (CAST)	NP_001035911.1:p.Pro590=
NM_001042446.3:c.1770T>G (CAST)	NP_001035911.1:p.Pro590=
NM_001190442.1:c.1893T>G (CAST)	NP_001177371.1:p.Pro631=
NM_001190442.2:c.1893T>G (CAST)	NP_001177371.1:p.Pro631=
NM_001284212.1:c.1806T>G (CAST)	NP_001271141.1:p.Pro602=
NM_001284212.3:c.1806T>G (CAST)	NP_001271141.1:p.Pro602=
NM_001284212.4:c.1806T>G (CAST)	NP_001271141.1:p.Pro602=
NM_001284213.1:c.1716T>G (CAST)	NP_001271142.1:p.Pro572=
NM_001284213.3:c.1716T>G (CAST)	NP_001271142.1:p.Pro572=
NM_001284213.4:c.1716T>G (CAST)	NP_001271142.1:p.Pro572=
NM_001330626.1:c.2085T>G (CAST)	NP_001317555.1:p.Pro695=
NM_001330626.2:c.2085T>G (CAST)	NP_001317555.1:p.Pro695=
NM_001330627.1:c.2055T>G (CAST)	NP_001317556.1:p.Pro685=
NM_001330627.2:c.2055T>G (CAST)	NP_001317556.1:p.Pro685=
NM_001330628.1:c.2013T>G (CAST)	NP_001317557.1:p.Pro671=
NM_001330628.2:c.2013T>G (CAST)	NP_001317557.1:p.Pro671=
NM_001330629.1:c.2097T>G (CAST)	NP_001317558.1:p.Pro699=
NM_001330629.2:c.2097T>G (CAST)	NP_001317558.1:p.Pro699=
NM_001330630.1:c.1767T>G (CAST)	NP_001317559.1:p.Pro589=
NM_001330630.2:c.1767T>G (CAST)	NP_001317559.1:p.Pro589=
NM_001330631.1:c.1893T>G (CAST)	NP_001317560.1:p.Pro631=
NM_001330631.2:c.1893T>G (CAST)	NP_001317560.1:p.Pro631=
NM_001330632.1:c.1863T>G (CAST)	NP_001317561.1:p.Pro621=
NM_001330632.2:c.1863T>G (CAST)	NP_001317561.1:p.Pro621=
NM_001330633.1:c.1875T>G (CAST)	NP_001317562.1:p.Pro625=
NM_001330633.2:c.1875T>G (CAST)	NP_001317562.1:p.Pro625=
NM_001330634.1:c.1836T>G (CAST)	NP_001317563.1:p.Pro612=
NM_001330634.2:c.1836T>G (CAST)	NP_001317563.1:p.Pro612=
NM_001349244.1:c.2819-4684A>C (ERAP1)	NP_001336173.1:n.2819-4684A>C
NM_001349244.2:c.2819-4684A>C (ERAP1)	NP_001336173.1:n.2819-4684A>C
NM_001375317.1:c.2070T>G (CAST)	NP_001362246.1:p.Pro690=
NM_001750.6:c.2181T>G (CAST)	NP_001741.4:p.Pro727=
NM_016442.3:c.2819-4684A>C (ERAP1)	NP_057526.3:n.2819-4684A>C
NM_016442.4:c.2819-4684A>C (ERAP1)	NP_057526.3:n.2819-4684A>C
NM_016442.5:c.2819-4684A>C (ERAP1)	NP_057526.3:n.2819-4684A>C
NM_173060.3:c.1866T>G (CAST)	NP_775083.1:p.Pro622=
NM_173060.4:c.1866T>G (CAST)	NP_775083.1:p.Pro622=
NM_173060.5:c.1866T>G (CAST)	NP_775083.1:p.Pro622=
NR_104285.1:n.1185T>G (CAST)
NR_104285.2:n.1123T>G (CAST)
ENST00000296754.7:c.2819-4684A>C (ERAP1)	ENSP00000296754.3:n.2819-4684A>C
ENST00000309190.9:c.1866T>G (CAST)	ENSP00000312523.5:p.Pro622=
ENST00000325674.11:c.1098T>G (CAST)	ENSP00000320319.8:p.Pro366=
ENST00000338252.7:c.1893T>G (CAST)	ENSP00000343421.3:p.Pro631=
ENST00000341926.7:c.1932T>G (CAST)	ENSP00000339914.3:p.Pro644=
ENST00000348386.7:n.1874T>G (CAST)
ENST00000395812.6:c.2058T>G (CAST)	ENSP00000379157.2:p.Pro686=
ENST00000395813.5:c.1932T>G (CAST)	ENSP00000379158.2:p.Pro644=
ENST00000437034.6:c.1187T>G (CAST)
ENST00000484552.5:c.1156T>G (CAST)
ENST00000484552.6:c.1098T>G (CAST)	ENSP00000432878.2:p.Pro366=
ENST00000504465.5:c.1716T>G (CAST)	ENSP00000425670.1:p.Pro572=
ENST00000508579.5:c.1077T>G (CAST)	ENSP00000425787.1:p.Pro359=
ENST00000508608.5:c.2070T>G (CAST)	ENSP00000422677.1:p.Pro690=
ENST00000508608.6:c.2031T>G (CAST)	ENSP00000422677.2:p.Pro677=
ENST00000508830.5:c.2181T>G (CAST)	ENSP00000425721.1:p.Pro727=
ENST00000509903.5:c.1827T>G (CAST)	ENSP00000426946.1:p.Pro609=
ENST00000510098.1:c.417T>G (CAST)	ENSP00000427195.1:p.Pro139=
ENST00000510500.5:c.1201T>G (CAST)
ENST00000510756.5:c.2115T>G (CAST)	ENSP00000422176.1:p.Pro705=
ENST00000510756.6:c.1809T>G (CAST)	ENSP00000422176.2:p.Pro603=
ENST00000511049.5:c.1887T>G (CAST)	ENSP00000421130.1:p.Pro629=
ENST00000511782.5:c.1890T>G (CAST)	ENSP00000423638.1:p.Pro630=
ENST00000515663.5:c.1101T>G (CAST)	ENSP00000422929.1:p.Pro367=
ENST00000674587.1:c.1635T>G (CAST)	ENSP00000501797.1:p.Pro545=
ENST00000674702.1:c.1920T>G (CAST)	ENSP00000502345.1:p.Pro640=
ENST00000674984.1:c.2115T>G (CAST)	ENSP00000501713.1:p.Pro705=
ENST00000675033.1:c.1809T>G (CAST)	ENSP00000501659.1:p.Pro603=
ENST00000675185.1:c.562T>G (CAST)
ENST00000675266.1:c.2083T>G (CAST)
ENST00000675267.1:c.*1805T>G (CAST)	ENSP00000502095.1:n.*1805T>G
ENST00000675275.1:c.898T>G (CAST)
ENST00000675479.1:c.1794T>G (CAST)	ENSP00000502244.1:p.Pro598=
ENST00000675614.1:c.1851T>G (CAST)	ENSP00000502136.1:p.Pro617=
ENST00000675663.1:c.2070T>G (CAST)	ENSP00000502449.1:p.Pro690=
ENST00000675734.1:n.722T>G (CAST)
ENST00000675858.1:c.1725T>G (CAST)	ENSP00000501780.1:p.Pro575=
XM_006714696.2:c.2181T>G (CAST)	XP_006714759.1:p.Pro727=
XM_006714697.2:c.2178T>G (CAST)	XP_006714760.1:p.Pro726=
XM_006714698.2:c.2142T>G (CAST)	XP_006714761.1:p.Pro714=
XM_006714699.2:c.2136T>G (CAST)	XP_006714762.1:p.Pro712=
XM_006714700.2:c.2124T>G (CAST)	XP_006714763.1:p.Pro708=
XM_006714701.2:c.2115T>G (CAST)	XP_006714764.1:p.Pro705=
XM_006714702.2:c.2079T>G (CAST)	XP_006714765.1:p.Pro693=
XM_006714703.2:c.2076T>G (CAST)	XP_006714766.1:p.Pro692=
XM_006714704.2:c.2070T>G (CAST)	XP_006714767.1:p.Pro690=
XM_006714705.2:c.2055T>G (CAST)	XP_006714768.1:p.Pro685=
XM_006714706.2:c.2013T>G (CAST)	XP_006714769.1:p.Pro671=
XM_006714707.2:c.1932T>G (CAST)	XP_006714770.1:p.Pro644=
XM_006714708.2:c.1893T>G (CAST)	XP_006714771.1:p.Pro631=
XM_006714709.2:c.1875T>G (CAST)	XP_006714772.1:p.Pro625=
XM_006714710.2:c.1827T>G (CAST)	XP_006714773.1:p.Pro609=
XM_006714711.2:c.1809T>G (CAST)	XP_006714774.1:p.Pro603=
XM_006714712.2:c.1770T>G (CAST)	XP_006714775.1:p.Pro590=
XM_006714713.2:c.1101T>G (CAST)	XP_006714776.1:p.Pro367=
XM_006714714.2:c.1098T>G (CAST)	XP_006714777.1:p.Pro366=
XM_006714715.2:c.1077T>G (CAST)	XP_006714778.1:p.Pro359=
XM_011543487.1:c.2819-4684A>C (ERAP1)	XP_011541789.1:n.2819-4684A>C
XM_011543654.1:c.2100T>G (CAST)	XP_011541956.1:p.Pro700=
XM_011543655.1:c.2097T>G (CAST)	XP_011541957.1:p.Pro699=
XM_011543656.1:c.2034T>G (CAST)	XP_011541958.1:p.Pro678=
XM_011543657.1:c.1989T>G (CAST)	XP_011541959.1:p.Pro663=
XM_011543658.1:c.1785T>G (CAST)	XP_011541960.1:p.Pro595=
XR_001742119.2:n.2957-4684A>C (ERAP1)