Canonical Allele Identifier: CA360484877

Gene: CAST ERAP1

Linked Data

• gnomAD v4: 5-96762281-A-G
• MyVariant Identifiers: chr5:g.96097985A>G (hg19) ; chr5:g.96762281A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96762281A>G , CM000667.2:g.96762281A>G	GRCh38
NC_000005.9:g.96097985A>G , CM000667.1:g.96097985A>G	GRCh37
NC_000005.8:g.96123741A>G	NCBI36
NG_027839.1:g.56864T>C
NG_029490.1:g.105245A>G
NG_027839.2:g.178703T>C
NG_029490.2:g.105245A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484552.6:c.761A>G (CAST)	ENSP00000432878.2:p.Glu254Gly
ENST00000508608.6:c.1691A>G (CAST)	ENSP00000422677.2:p.Glu564Gly
ENST00000510756.6:c.1469A>G (CAST)	ENSP00000422176.2:p.Glu490Gly
ENST00000674587.1:c.1298A>G (CAST)	ENSP00000501797.1:p.Glu433Gly
ENST00000674702.1:c.1583A>G (CAST)	ENSP00000502345.1:p.Glu528Gly
ENST00000674984.1:c.1775A>G (CAST)	ENSP00000501713.1:p.Glu592Gly
ENST00000675033.1:c.1469A>G (CAST)	ENSP00000501659.1:p.Glu490Gly
ENST00000675179.1:c.1841A>G (CAST) MANE Select	ENSP00000501872.1:p.Glu614Gly
ENST00000675185.1:c.222A>G (CAST)
ENST00000675266.1:c.1743A>G (CAST)
ENST00000675267.1:c.*1465A>G (CAST)	ENSP00000502095.1:n.*1465A>G
ENST00000675275.1:c.558A>G (CAST)
ENST00000675479.1:c.1454A>G (CAST)	ENSP00000502244.1:p.Glu485Gly
ENST00000675614.1:c.1511A>G (CAST)	ENSP00000502136.1:p.Glu504Gly
ENST00000675663.1:c.1730A>G (CAST)	ENSP00000502449.1:p.Glu577Gly
ENST00000675734.1:n.385A>G (CAST)
ENST00000675858.1:c.1385A>G (CAST)	ENSP00000501780.1:p.Glu462Gly
ENST00000296754.7:c.*919T>C (ERAP1)	ENSP00000296754.3:n.*919T>C
ENST00000309190.9:c.1526A>G (CAST)	ENSP00000312523.5:p.Glu509Gly
ENST00000325674.11:c.761A>G (CAST)	ENSP00000320319.8:p.Glu254Gly
ENST00000338252.7:c.1553A>G (CAST)	ENSP00000343421.3:p.Glu518Gly
ENST00000341926.7:c.1592A>G (CAST)	ENSP00000339914.3:p.Glu531Gly
ENST00000348386.7:n.1534A>G (CAST)
ENST00000395812.6:c.1718A>G (CAST)	ENSP00000379157.2:p.Glu573Gly
ENST00000395813.5:c.1592A>G (CAST)	ENSP00000379158.2:p.Glu531Gly
ENST00000437034.6:c.847A>G (CAST)
ENST00000484552.5:c.819A>G (CAST)
ENST00000504465.5:c.1376A>G (CAST)	ENSP00000425670.1:p.Glu459Gly
ENST00000508579.5:c.737A>G (CAST)	ENSP00000425787.1:p.Glu246Gly
ENST00000508608.5:c.1730A>G (CAST)	ENSP00000422677.1:p.Glu577Gly
ENST00000508830.5:c.1841A>G (CAST)	ENSP00000425721.1:p.Glu614Gly
ENST00000509903.5:c.1487A>G (CAST)	ENSP00000426946.1:p.Glu496Gly
ENST00000510098.1:c.77A>G (CAST)	ENSP00000427195.1:p.Glu26Gly
ENST00000510156.5:c.1592A>G (CAST)	ENSP00000422325.1:p.Glu531Gly
ENST00000510500.5:c.864A>G (CAST)
ENST00000510756.5:c.1775A>G (CAST)	ENSP00000422176.1:p.Glu592Gly
ENST00000511049.5:c.1550A>G (CAST)	ENSP00000421130.1:p.Glu517Gly
ENST00000511782.5:c.1550A>G (CAST)	ENSP00000423638.1:p.Glu517Gly
ENST00000515663.5:c.761A>G (CAST)	ENSP00000422929.1:p.Glu254Gly
NM_001042440.3:c.1718A>G (CAST)	NP_001035905.1:p.Glu573Gly
NM_001190442.1:c.1553A>G (CAST)	NP_001177371.1:p.Glu518Gly
NM_001284212.1:c.1469A>G (CAST)	NP_001271141.1:p.Glu490Gly
NM_001284213.1:c.1376A>G (CAST)	NP_001271142.1:p.Glu459Gly
NM_016442.3:c.*919T>C (ERAP1)	NP_057526.3:n.*919T>C
NM_173060.3:c.1526A>G (CAST)	NP_775083.1:p.Glu509Gly
NR_104285.1:n.848A>G (CAST)
XM_006714696.2:c.1841A>G (CAST)	XP_006714759.1:p.Glu614Gly
XM_006714697.2:c.1841A>G (CAST)	XP_006714760.1:p.Glu614Gly
XM_006714698.2:c.1802A>G (CAST)	XP_006714761.1:p.Glu601Gly
XM_006714699.2:c.1796A>G (CAST)	XP_006714762.1:p.Glu599Gly
XM_006714700.2:c.1784A>G (CAST)	XP_006714763.1:p.Glu595Gly
XM_006714701.2:c.1775A>G (CAST)	XP_006714764.1:p.Glu592Gly
XM_006714702.2:c.1739A>G (CAST)	XP_006714765.1:p.Glu580Gly
XM_006714703.2:c.1736A>G (CAST)	XP_006714766.1:p.Glu579Gly
XM_006714704.2:c.1730A>G (CAST)	XP_006714767.1:p.Glu577Gly
XM_006714705.2:c.1718A>G (CAST)	XP_006714768.1:p.Glu573Gly
XM_006714706.2:c.1673A>G (CAST)	XP_006714769.1:p.Glu558Gly
XM_006714707.2:c.1592A>G (CAST)	XP_006714770.1:p.Glu531Gly
XM_006714708.2:c.1553A>G (CAST)	XP_006714771.1:p.Glu518Gly
XM_006714709.2:c.1535A>G (CAST)	XP_006714772.1:p.Glu512Gly
XM_006714710.2:c.1487A>G (CAST)	XP_006714773.1:p.Glu496Gly
XM_006714711.2:c.1469A>G (CAST)	XP_006714774.1:p.Glu490Gly
XM_006714712.2:c.1430A>G (CAST)	XP_006714775.1:p.Glu477Gly
XM_006714713.2:c.761A>G (CAST)	XP_006714776.1:p.Glu254Gly
XM_006714714.2:c.761A>G (CAST)	XP_006714777.1:p.Glu254Gly
XM_006714715.2:c.737A>G (CAST)	XP_006714778.1:p.Glu246Gly
XM_011543487.1:c.*919T>C (ERAP1)	XP_011541789.1:n.*919T>C
XM_011543654.1:c.1760A>G (CAST)	XP_011541956.1:p.Glu587Gly
XM_011543655.1:c.1757A>G (CAST)	XP_011541957.1:p.Glu586Gly
XM_011543656.1:c.1694A>G (CAST)	XP_011541958.1:p.Glu565Gly
XM_011543657.1:c.1649A>G (CAST)	XP_011541959.1:p.Glu550Gly
XM_011543658.1:c.1445A>G (CAST)	XP_011541960.1:p.Glu482Gly
NM_001042440.4:c.1718A>G (CAST)	NP_001035905.1:p.Glu573Gly
NM_001042441.2:c.1784A>G (CAST)	NP_001035906.1:p.Glu595Gly
NM_001042442.2:c.1775A>G (CAST)	NP_001035907.1:p.Glu592Gly
NM_001042443.2:c.1592A>G (CAST)	NP_001035908.1:p.Glu531Gly
NM_001042444.2:c.1469A>G (CAST)	NP_001035909.1:p.Glu490Gly
NM_001042445.2:c.1487A>G (CAST)	NP_001035910.1:p.Glu496Gly
NM_001042446.2:c.1430A>G (CAST)	NP_001035911.1:p.Glu477Gly
NM_001284212.3:c.1469A>G (CAST)	NP_001271141.1:p.Glu490Gly
NM_001284213.3:c.1376A>G (CAST)	NP_001271142.1:p.Glu459Gly
NM_001330626.1:c.1745A>G (CAST)	NP_001317555.1:p.Glu582Gly
NM_001330627.1:c.1718A>G (CAST)	NP_001317556.1:p.Glu573Gly
NM_001330628.1:c.1673A>G (CAST)	NP_001317557.1:p.Glu558Gly
NM_001330629.1:c.1757A>G (CAST)	NP_001317558.1:p.Glu586Gly
NM_001330630.1:c.1430A>G (CAST)	NP_001317559.1:p.Glu477Gly
NM_001330631.1:c.1553A>G (CAST)	NP_001317560.1:p.Glu518Gly
NM_001330632.1:c.1526A>G (CAST)	NP_001317561.1:p.Glu509Gly
NM_001330633.1:c.1535A>G (CAST)	NP_001317562.1:p.Glu512Gly
NM_001330634.1:c.1496A>G (CAST)	NP_001317563.1:p.Glu499Gly
NM_001349244.1:c.*919T>C (ERAP1)	NP_001336173.1:n.*919T>C
NM_001750.6:c.1841A>G (CAST)	NP_001741.4:p.Glu614Gly
NM_016442.4:c.*919T>C (ERAP1)	NP_057526.3:n.*919T>C
NM_173060.4:c.1526A>G (CAST)	NP_775083.1:p.Glu509Gly
XR_001742119.2:n.3904T>C (ERAP1)
NM_001042440.5:c.1718A>G (CAST)	NP_001035905.1:p.Glu573Gly
NM_001042441.3:c.1784A>G (CAST)	NP_001035906.1:p.Glu595Gly
NM_001042442.3:c.1775A>G (CAST)	NP_001035907.1:p.Glu592Gly
NM_001330626.2:c.1745A>G (CAST)	NP_001317555.1:p.Glu582Gly
NM_001330627.2:c.1718A>G (CAST)	NP_001317556.1:p.Glu573Gly
NM_001330628.2:c.1673A>G (CAST)	NP_001317557.1:p.Glu558Gly
NM_001330629.2:c.1757A>G (CAST)	NP_001317558.1:p.Glu586Gly
NM_001375317.1:c.1730A>G (CAST)	NP_001362246.1:p.Glu577Gly
NM_001750.7:c.1841A>G (CAST) MANE Select	NP_001741.4:p.Glu614Gly
NR_104285.2:n.786A>G (CAST)
NM_001042443.3:c.1592A>G (CAST)	NP_001035908.1:p.Glu531Gly
NM_001042444.3:c.1469A>G (CAST)	NP_001035909.1:p.Glu490Gly
NM_001042445.3:c.1487A>G (CAST)	NP_001035910.1:p.Glu496Gly
NM_001042446.3:c.1430A>G (CAST)	NP_001035911.1:p.Glu477Gly
NM_001190442.2:c.1553A>G (CAST)	NP_001177371.1:p.Glu518Gly
NM_001284212.4:c.1469A>G (CAST)	NP_001271141.1:p.Glu490Gly
NM_001284213.4:c.1376A>G (CAST)	NP_001271142.1:p.Glu459Gly
NM_001330630.2:c.1430A>G (CAST)	NP_001317559.1:p.Glu477Gly
NM_001330631.2:c.1553A>G (CAST)	NP_001317560.1:p.Glu518Gly
NM_001330632.2:c.1526A>G (CAST)	NP_001317561.1:p.Glu509Gly
NM_001330633.2:c.1535A>G (CAST)	NP_001317562.1:p.Glu512Gly
NM_001330634.2:c.1496A>G (CAST)	NP_001317563.1:p.Glu499Gly
NM_001349244.2:c.*919T>C (ERAP1)	NP_001336173.1:n.*919T>C
NM_016442.5:c.*919T>C (ERAP1)	NP_057526.3:n.*919T>C
NM_173060.5:c.1526A>G (CAST)	NP_775083.1:p.Glu509Gly