Canonical Allele Identifier: CA360484993

Gene: CAST ERAP1

Linked Data

• MyVariant Identifiers: chr5:g.96098044A>G (hg19) ; chr5:g.96762340A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96762340A>G , CM000667.2:g.96762340A>G	GRCh38
NC_000005.9:g.96098044A>G , CM000667.1:g.96098044A>G	GRCh37
NC_000005.8:g.96123800A>G	NCBI36
NG_027839.1:g.56805T>C
NG_029490.1:g.105304A>G
NG_027839.2:g.178644T>C
NG_029490.2:g.105304A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484552.6:c.820A>G (CAST)	ENSP00000432878.2:p.Thr274Ala
ENST00000508608.6:c.1750A>G (CAST)	ENSP00000422677.2:p.Thr584Ala
ENST00000510756.6:c.1528A>G (CAST)	ENSP00000422176.2:p.Thr510Ala
ENST00000674587.1:c.1357A>G (CAST)	ENSP00000501797.1:p.Thr453Ala
ENST00000674702.1:c.1642A>G (CAST)	ENSP00000502345.1:p.Thr548Ala
ENST00000674984.1:c.1834A>G (CAST)	ENSP00000501713.1:p.Thr612Ala
ENST00000675033.1:c.1528A>G (CAST)	ENSP00000501659.1:p.Thr510Ala
ENST00000675179.1:c.1900A>G (CAST) MANE Select	ENSP00000501872.1:p.Thr634Ala
ENST00000675185.1:c.281A>G (CAST)
ENST00000675266.1:c.1802A>G (CAST)
ENST00000675267.1:c.*1524A>G (CAST)	ENSP00000502095.1:n.*1524A>G
ENST00000675275.1:c.617A>G (CAST)
ENST00000675479.1:c.1513A>G (CAST)	ENSP00000502244.1:p.Thr505Ala
ENST00000675614.1:c.1570A>G (CAST)	ENSP00000502136.1:p.Thr524Ala
ENST00000675663.1:c.1789A>G (CAST)	ENSP00000502449.1:p.Thr597Ala
ENST00000675734.1:n.444A>G (CAST)
ENST00000675858.1:c.1444A>G (CAST)	ENSP00000501780.1:p.Thr482Ala
ENST00000296754.7:c.*860T>C (ERAP1)	ENSP00000296754.3:n.*860T>C
ENST00000309190.9:c.1585A>G (CAST)	ENSP00000312523.5:p.Thr529Ala
ENST00000325674.11:c.820A>G (CAST)	ENSP00000320319.8:p.Thr274Ala
ENST00000338252.7:c.1612A>G (CAST)	ENSP00000343421.3:p.Thr538Ala
ENST00000341926.7:c.1651A>G (CAST)	ENSP00000339914.3:p.Thr551Ala
ENST00000348386.7:n.1593A>G (CAST)
ENST00000395812.6:c.1777A>G (CAST)	ENSP00000379157.2:p.Thr593Ala
ENST00000395813.5:c.1651A>G (CAST)	ENSP00000379158.2:p.Thr551Ala
ENST00000437034.6:c.906A>G (CAST)
ENST00000484552.5:c.878A>G (CAST)
ENST00000504465.5:c.1435A>G (CAST)	ENSP00000425670.1:p.Thr479Ala
ENST00000508579.5:c.796A>G (CAST)	ENSP00000425787.1:p.Thr266Ala
ENST00000508608.5:c.1789A>G (CAST)	ENSP00000422677.1:p.Thr597Ala
ENST00000508830.5:c.1900A>G (CAST)	ENSP00000425721.1:p.Thr634Ala
ENST00000509903.5:c.1546A>G (CAST)	ENSP00000426946.1:p.Thr516Ala
ENST00000510098.1:c.136A>G (CAST)	ENSP00000427195.1:p.Thr46Ala
ENST00000510156.5:c.1651A>G (CAST)	ENSP00000422325.1:p.Thr551Ala
ENST00000510500.5:c.923A>G (CAST)
ENST00000510756.5:c.1834A>G (CAST)	ENSP00000422176.1:p.Thr612Ala
ENST00000511049.5:c.1609A>G (CAST)	ENSP00000421130.1:p.Thr537Ala
ENST00000511782.5:c.1609A>G (CAST)	ENSP00000423638.1:p.Thr537Ala
ENST00000515663.5:c.820A>G (CAST)	ENSP00000422929.1:p.Thr274Ala
NM_001042440.3:c.1777A>G (CAST)	NP_001035905.1:p.Thr593Ala
NM_001190442.1:c.1612A>G (CAST)	NP_001177371.1:p.Thr538Ala
NM_001284212.1:c.1528A>G (CAST)	NP_001271141.1:p.Thr510Ala
NM_001284213.1:c.1435A>G (CAST)	NP_001271142.1:p.Thr479Ala
NM_016442.3:c.*860T>C (ERAP1)	NP_057526.3:n.*860T>C
NM_173060.3:c.1585A>G (CAST)	NP_775083.1:p.Thr529Ala
NR_104285.1:n.907A>G (CAST)
XM_006714696.2:c.1900A>G (CAST)	XP_006714759.1:p.Thr634Ala
XM_006714697.2:c.1900A>G (CAST)	XP_006714760.1:p.Thr634Ala
XM_006714698.2:c.1861A>G (CAST)	XP_006714761.1:p.Thr621Ala
XM_006714699.2:c.1855A>G (CAST)	XP_006714762.1:p.Thr619Ala
XM_006714700.2:c.1843A>G (CAST)	XP_006714763.1:p.Thr615Ala
XM_006714701.2:c.1834A>G (CAST)	XP_006714764.1:p.Thr612Ala
XM_006714702.2:c.1798A>G (CAST)	XP_006714765.1:p.Thr600Ala
XM_006714703.2:c.1795A>G (CAST)	XP_006714766.1:p.Thr599Ala
XM_006714704.2:c.1789A>G (CAST)	XP_006714767.1:p.Thr597Ala
XM_006714705.2:c.1777A>G (CAST)	XP_006714768.1:p.Thr593Ala
XM_006714706.2:c.1732A>G (CAST)	XP_006714769.1:p.Thr578Ala
XM_006714707.2:c.1651A>G (CAST)	XP_006714770.1:p.Thr551Ala
XM_006714708.2:c.1612A>G (CAST)	XP_006714771.1:p.Thr538Ala
XM_006714709.2:c.1594A>G (CAST)	XP_006714772.1:p.Thr532Ala
XM_006714710.2:c.1546A>G (CAST)	XP_006714773.1:p.Thr516Ala
XM_006714711.2:c.1528A>G (CAST)	XP_006714774.1:p.Thr510Ala
XM_006714712.2:c.1489A>G (CAST)	XP_006714775.1:p.Thr497Ala
XM_006714713.2:c.820A>G (CAST)	XP_006714776.1:p.Thr274Ala
XM_006714714.2:c.820A>G (CAST)	XP_006714777.1:p.Thr274Ala
XM_006714715.2:c.796A>G (CAST)	XP_006714778.1:p.Thr266Ala
XM_011543487.1:c.*860T>C (ERAP1)	XP_011541789.1:n.*860T>C
XM_011543654.1:c.1819A>G (CAST)	XP_011541956.1:p.Thr607Ala
XM_011543655.1:c.1816A>G (CAST)	XP_011541957.1:p.Thr606Ala
XM_011543656.1:c.1753A>G (CAST)	XP_011541958.1:p.Thr585Ala
XM_011543657.1:c.1708A>G (CAST)	XP_011541959.1:p.Thr570Ala
XM_011543658.1:c.1504A>G (CAST)	XP_011541960.1:p.Thr502Ala
NM_001042440.4:c.1777A>G (CAST)	NP_001035905.1:p.Thr593Ala
NM_001042441.2:c.1843A>G (CAST)	NP_001035906.1:p.Thr615Ala
NM_001042442.2:c.1834A>G (CAST)	NP_001035907.1:p.Thr612Ala
NM_001042443.2:c.1651A>G (CAST)	NP_001035908.1:p.Thr551Ala
NM_001042444.2:c.1528A>G (CAST)	NP_001035909.1:p.Thr510Ala
NM_001042445.2:c.1546A>G (CAST)	NP_001035910.1:p.Thr516Ala
NM_001042446.2:c.1489A>G (CAST)	NP_001035911.1:p.Thr497Ala
NM_001284212.3:c.1528A>G (CAST)	NP_001271141.1:p.Thr510Ala
NM_001284213.3:c.1435A>G (CAST)	NP_001271142.1:p.Thr479Ala
NM_001330626.1:c.1804A>G (CAST)	NP_001317555.1:p.Thr602Ala
NM_001330627.1:c.1777A>G (CAST)	NP_001317556.1:p.Thr593Ala
NM_001330628.1:c.1732A>G (CAST)	NP_001317557.1:p.Thr578Ala
NM_001330629.1:c.1816A>G (CAST)	NP_001317558.1:p.Thr606Ala
NM_001330630.1:c.1489A>G (CAST)	NP_001317559.1:p.Thr497Ala
NM_001330631.1:c.1612A>G (CAST)	NP_001317560.1:p.Thr538Ala
NM_001330632.1:c.1585A>G (CAST)	NP_001317561.1:p.Thr529Ala
NM_001330633.1:c.1594A>G (CAST)	NP_001317562.1:p.Thr532Ala
NM_001330634.1:c.1555A>G (CAST)	NP_001317563.1:p.Thr519Ala
NM_001349244.1:c.*860T>C (ERAP1)	NP_001336173.1:n.*860T>C
NM_001750.6:c.1900A>G (CAST)	NP_001741.4:p.Thr634Ala
NM_016442.4:c.*860T>C (ERAP1)	NP_057526.3:n.*860T>C
NM_173060.4:c.1585A>G (CAST)	NP_775083.1:p.Thr529Ala
XR_001742119.2:n.3845T>C (ERAP1)
NM_001042440.5:c.1777A>G (CAST)	NP_001035905.1:p.Thr593Ala
NM_001042441.3:c.1843A>G (CAST)	NP_001035906.1:p.Thr615Ala
NM_001042442.3:c.1834A>G (CAST)	NP_001035907.1:p.Thr612Ala
NM_001330626.2:c.1804A>G (CAST)	NP_001317555.1:p.Thr602Ala
NM_001330627.2:c.1777A>G (CAST)	NP_001317556.1:p.Thr593Ala
NM_001330628.2:c.1732A>G (CAST)	NP_001317557.1:p.Thr578Ala
NM_001330629.2:c.1816A>G (CAST)	NP_001317558.1:p.Thr606Ala
NM_001375317.1:c.1789A>G (CAST)	NP_001362246.1:p.Thr597Ala
NM_001750.7:c.1900A>G (CAST) MANE Select	NP_001741.4:p.Thr634Ala
NR_104285.2:n.845A>G (CAST)
NM_001042443.3:c.1651A>G (CAST)	NP_001035908.1:p.Thr551Ala
NM_001042444.3:c.1528A>G (CAST)	NP_001035909.1:p.Thr510Ala
NM_001042445.3:c.1546A>G (CAST)	NP_001035910.1:p.Thr516Ala
NM_001042446.3:c.1489A>G (CAST)	NP_001035911.1:p.Thr497Ala
NM_001190442.2:c.1612A>G (CAST)	NP_001177371.1:p.Thr538Ala
NM_001284212.4:c.1528A>G (CAST)	NP_001271141.1:p.Thr510Ala
NM_001284213.4:c.1435A>G (CAST)	NP_001271142.1:p.Thr479Ala
NM_001330630.2:c.1489A>G (CAST)	NP_001317559.1:p.Thr497Ala
NM_001330631.2:c.1612A>G (CAST)	NP_001317560.1:p.Thr538Ala
NM_001330632.2:c.1585A>G (CAST)	NP_001317561.1:p.Thr529Ala
NM_001330633.2:c.1594A>G (CAST)	NP_001317562.1:p.Thr532Ala
NM_001330634.2:c.1555A>G (CAST)	NP_001317563.1:p.Thr519Ala
NM_001349244.2:c.*860T>C (ERAP1)	NP_001336173.1:n.*860T>C
NM_016442.5:c.*860T>C (ERAP1)	NP_057526.3:n.*860T>C
NM_173060.5:c.1585A>G (CAST)	NP_775083.1:p.Thr529Ala