Canonical Allele Identifier: CA360484948

Gene: CAST ERAP1

Linked Data

• gnomAD v4: 5-96762316-G-C
• MyVariant Identifiers: chr5:g.96098020G>C (hg19) ; chr5:g.96762316G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96762316G>C , CM000667.2:g.96762316G>C	GRCh38
NC_000005.9:g.96098020G>C , CM000667.1:g.96098020G>C	GRCh37
NC_000005.8:g.96123776G>C	NCBI36
NG_027839.1:g.56829C>G
NG_029490.1:g.105280G>C
NG_027839.2:g.178668C>G
NG_029490.2:g.105280G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484552.6:c.796G>C (CAST)	ENSP00000432878.2:p.Val266Leu
ENST00000508608.6:c.1726G>C (CAST)	ENSP00000422677.2:p.Val576Leu
ENST00000510756.6:c.1504G>C (CAST)	ENSP00000422176.2:p.Val502Leu
ENST00000674587.1:c.1333G>C (CAST)	ENSP00000501797.1:p.Val445Leu
ENST00000674702.1:c.1618G>C (CAST)	ENSP00000502345.1:p.Val540Leu
ENST00000674984.1:c.1810G>C (CAST)	ENSP00000501713.1:p.Val604Leu
ENST00000675033.1:c.1504G>C (CAST)	ENSP00000501659.1:p.Val502Leu
ENST00000675179.1:c.1876G>C (CAST) MANE Select	ENSP00000501872.1:p.Val626Leu
ENST00000675185.1:c.257G>C (CAST)
ENST00000675266.1:c.1778G>C (CAST)
ENST00000675267.1:c.*1500G>C (CAST)	ENSP00000502095.1:n.*1500G>C
ENST00000675275.1:c.593G>C (CAST)
ENST00000675479.1:c.1489G>C (CAST)	ENSP00000502244.1:p.Val497Leu
ENST00000675614.1:c.1546G>C (CAST)	ENSP00000502136.1:p.Val516Leu
ENST00000675663.1:c.1765G>C (CAST)	ENSP00000502449.1:p.Val589Leu
ENST00000675734.1:n.420G>C (CAST)
ENST00000675858.1:c.1420G>C (CAST)	ENSP00000501780.1:p.Val474Leu
ENST00000296754.7:c.*884C>G (ERAP1)	ENSP00000296754.3:n.*884C>G
ENST00000309190.9:c.1561G>C (CAST)	ENSP00000312523.5:p.Val521Leu
ENST00000325674.11:c.796G>C (CAST)	ENSP00000320319.8:p.Val266Leu
ENST00000338252.7:c.1588G>C (CAST)	ENSP00000343421.3:p.Val530Leu
ENST00000341926.7:c.1627G>C (CAST)	ENSP00000339914.3:p.Val543Leu
ENST00000348386.7:n.1569G>C (CAST)
ENST00000395812.6:c.1753G>C (CAST)	ENSP00000379157.2:p.Val585Leu
ENST00000395813.5:c.1627G>C (CAST)	ENSP00000379158.2:p.Val543Leu
ENST00000437034.6:c.882G>C (CAST)
ENST00000484552.5:c.854G>C (CAST)
ENST00000504465.5:c.1411G>C (CAST)	ENSP00000425670.1:p.Val471Leu
ENST00000508579.5:c.772G>C (CAST)	ENSP00000425787.1:p.Val258Leu
ENST00000508608.5:c.1765G>C (CAST)	ENSP00000422677.1:p.Val589Leu
ENST00000508830.5:c.1876G>C (CAST)	ENSP00000425721.1:p.Val626Leu
ENST00000509903.5:c.1522G>C (CAST)	ENSP00000426946.1:p.Val508Leu
ENST00000510098.1:c.112G>C (CAST)	ENSP00000427195.1:p.Val38Leu
ENST00000510156.5:c.1627G>C (CAST)	ENSP00000422325.1:p.Val543Leu
ENST00000510500.5:c.899G>C (CAST)
ENST00000510756.5:c.1810G>C (CAST)	ENSP00000422176.1:p.Val604Leu
ENST00000511049.5:c.1585G>C (CAST)	ENSP00000421130.1:p.Val529Leu
ENST00000511782.5:c.1585G>C (CAST)	ENSP00000423638.1:p.Val529Leu
ENST00000515663.5:c.796G>C (CAST)	ENSP00000422929.1:p.Val266Leu
NM_001042440.3:c.1753G>C (CAST)	NP_001035905.1:p.Val585Leu
NM_001190442.1:c.1588G>C (CAST)	NP_001177371.1:p.Val530Leu
NM_001284212.1:c.1504G>C (CAST)	NP_001271141.1:p.Val502Leu
NM_001284213.1:c.1411G>C (CAST)	NP_001271142.1:p.Val471Leu
NM_016442.3:c.*884C>G (ERAP1)	NP_057526.3:n.*884C>G
NM_173060.3:c.1561G>C (CAST)	NP_775083.1:p.Val521Leu
NR_104285.1:n.883G>C (CAST)
XM_006714696.2:c.1876G>C (CAST)	XP_006714759.1:p.Val626Leu
XM_006714697.2:c.1876G>C (CAST)	XP_006714760.1:p.Val626Leu
XM_006714698.2:c.1837G>C (CAST)	XP_006714761.1:p.Val613Leu
XM_006714699.2:c.1831G>C (CAST)	XP_006714762.1:p.Val611Leu
XM_006714700.2:c.1819G>C (CAST)	XP_006714763.1:p.Val607Leu
XM_006714701.2:c.1810G>C (CAST)	XP_006714764.1:p.Val604Leu
XM_006714702.2:c.1774G>C (CAST)	XP_006714765.1:p.Val592Leu
XM_006714703.2:c.1771G>C (CAST)	XP_006714766.1:p.Val591Leu
XM_006714704.2:c.1765G>C (CAST)	XP_006714767.1:p.Val589Leu
XM_006714705.2:c.1753G>C (CAST)	XP_006714768.1:p.Val585Leu
XM_006714706.2:c.1708G>C (CAST)	XP_006714769.1:p.Val570Leu
XM_006714707.2:c.1627G>C (CAST)	XP_006714770.1:p.Val543Leu
XM_006714708.2:c.1588G>C (CAST)	XP_006714771.1:p.Val530Leu
XM_006714709.2:c.1570G>C (CAST)	XP_006714772.1:p.Val524Leu
XM_006714710.2:c.1522G>C (CAST)	XP_006714773.1:p.Val508Leu
XM_006714711.2:c.1504G>C (CAST)	XP_006714774.1:p.Val502Leu
XM_006714712.2:c.1465G>C (CAST)	XP_006714775.1:p.Val489Leu
XM_006714713.2:c.796G>C (CAST)	XP_006714776.1:p.Val266Leu
XM_006714714.2:c.796G>C (CAST)	XP_006714777.1:p.Val266Leu
XM_006714715.2:c.772G>C (CAST)	XP_006714778.1:p.Val258Leu
XM_011543487.1:c.*884C>G (ERAP1)	XP_011541789.1:n.*884C>G
XM_011543654.1:c.1795G>C (CAST)	XP_011541956.1:p.Val599Leu
XM_011543655.1:c.1792G>C (CAST)	XP_011541957.1:p.Val598Leu
XM_011543656.1:c.1729G>C (CAST)	XP_011541958.1:p.Val577Leu
XM_011543657.1:c.1684G>C (CAST)	XP_011541959.1:p.Val562Leu
XM_011543658.1:c.1480G>C (CAST)	XP_011541960.1:p.Val494Leu
NM_001042440.4:c.1753G>C (CAST)	NP_001035905.1:p.Val585Leu
NM_001042441.2:c.1819G>C (CAST)	NP_001035906.1:p.Val607Leu
NM_001042442.2:c.1810G>C (CAST)	NP_001035907.1:p.Val604Leu
NM_001042443.2:c.1627G>C (CAST)	NP_001035908.1:p.Val543Leu
NM_001042444.2:c.1504G>C (CAST)	NP_001035909.1:p.Val502Leu
NM_001042445.2:c.1522G>C (CAST)	NP_001035910.1:p.Val508Leu
NM_001042446.2:c.1465G>C (CAST)	NP_001035911.1:p.Val489Leu
NM_001284212.3:c.1504G>C (CAST)	NP_001271141.1:p.Val502Leu
NM_001284213.3:c.1411G>C (CAST)	NP_001271142.1:p.Val471Leu
NM_001330626.1:c.1780G>C (CAST)	NP_001317555.1:p.Val594Leu
NM_001330627.1:c.1753G>C (CAST)	NP_001317556.1:p.Val585Leu
NM_001330628.1:c.1708G>C (CAST)	NP_001317557.1:p.Val570Leu
NM_001330629.1:c.1792G>C (CAST)	NP_001317558.1:p.Val598Leu
NM_001330630.1:c.1465G>C (CAST)	NP_001317559.1:p.Val489Leu
NM_001330631.1:c.1588G>C (CAST)	NP_001317560.1:p.Val530Leu
NM_001330632.1:c.1561G>C (CAST)	NP_001317561.1:p.Val521Leu
NM_001330633.1:c.1570G>C (CAST)	NP_001317562.1:p.Val524Leu
NM_001330634.1:c.1531G>C (CAST)	NP_001317563.1:p.Val511Leu
NM_001349244.1:c.*884C>G (ERAP1)	NP_001336173.1:n.*884C>G
NM_001750.6:c.1876G>C (CAST)	NP_001741.4:p.Val626Leu
NM_016442.4:c.*884C>G (ERAP1)	NP_057526.3:n.*884C>G
NM_173060.4:c.1561G>C (CAST)	NP_775083.1:p.Val521Leu
XR_001742119.2:n.3869C>G (ERAP1)
NM_001042440.5:c.1753G>C (CAST)	NP_001035905.1:p.Val585Leu
NM_001042441.3:c.1819G>C (CAST)	NP_001035906.1:p.Val607Leu
NM_001042442.3:c.1810G>C (CAST)	NP_001035907.1:p.Val604Leu
NM_001330626.2:c.1780G>C (CAST)	NP_001317555.1:p.Val594Leu
NM_001330627.2:c.1753G>C (CAST)	NP_001317556.1:p.Val585Leu
NM_001330628.2:c.1708G>C (CAST)	NP_001317557.1:p.Val570Leu
NM_001330629.2:c.1792G>C (CAST)	NP_001317558.1:p.Val598Leu
NM_001375317.1:c.1765G>C (CAST)	NP_001362246.1:p.Val589Leu
NM_001750.7:c.1876G>C (CAST) MANE Select	NP_001741.4:p.Val626Leu
NR_104285.2:n.821G>C (CAST)
NM_001042443.3:c.1627G>C (CAST)	NP_001035908.1:p.Val543Leu
NM_001042444.3:c.1504G>C (CAST)	NP_001035909.1:p.Val502Leu
NM_001042445.3:c.1522G>C (CAST)	NP_001035910.1:p.Val508Leu
NM_001042446.3:c.1465G>C (CAST)	NP_001035911.1:p.Val489Leu
NM_001190442.2:c.1588G>C (CAST)	NP_001177371.1:p.Val530Leu
NM_001284212.4:c.1504G>C (CAST)	NP_001271141.1:p.Val502Leu
NM_001284213.4:c.1411G>C (CAST)	NP_001271142.1:p.Val471Leu
NM_001330630.2:c.1465G>C (CAST)	NP_001317559.1:p.Val489Leu
NM_001330631.2:c.1588G>C (CAST)	NP_001317560.1:p.Val530Leu
NM_001330632.2:c.1561G>C (CAST)	NP_001317561.1:p.Val521Leu
NM_001330633.2:c.1570G>C (CAST)	NP_001317562.1:p.Val524Leu
NM_001330634.2:c.1531G>C (CAST)	NP_001317563.1:p.Val511Leu
NM_001349244.2:c.*884C>G (ERAP1)	NP_001336173.1:n.*884C>G
NM_016442.5:c.*884C>G (ERAP1)	NP_057526.3:n.*884C>G
NM_173060.5:c.1561G>C (CAST)	NP_775083.1:p.Val521Leu