Canonical Allele Identifier: CA2674677765

Linked Data

gnomAD v4: 5-96762192-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96762192T>G , CM000667.2:g.96762192T>G GRCh38
NC_000005.9:g.96097896T>G , CM000667.1:g.96097896T>G GRCh37
NC_000005.8:g.96123652T>G NCBI36
NG_027839.1:g.56953A>C
NG_029490.1:g.105156T>G
NG_027839.2:g.178792A>C
NG_029490.2:g.105156T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000484552.6:c.754-82T>G (CAST) ENSP00000432878.2:n.754-82T>G
ENST00000508608.6:c.1684-82T>G (CAST) ENSP00000422677.2:n.1684-82T>G
ENST00000510756.6:c.1462-82T>G (CAST) ENSP00000422176.2:n.1462-82T>G
ENST00000674587.1:c.1291-82T>G (CAST) ENSP00000501797.1:n.1291-82T>G
ENST00000674702.1:c.1576-82T>G (CAST) ENSP00000502345.1:n.1576-82T>G
ENST00000674984.1:c.1768-82T>G (CAST) ENSP00000501713.1:n.1768-82T>G
ENST00000675033.1:c.1462-82T>G (CAST) ENSP00000501659.1:n.1462-82T>G
ENST00000675179.1:c.1834-82T>G (CAST) MANE Select ENSP00000501872.1:n.1834-82T>G
ENST00000675185.1:c.215-82T>G (CAST)
ENST00000675266.1:c.1736-82T>G (CAST)
ENST00000675267.1:c.*1458-82T>G (CAST) ENSP00000502095.1:n.*1458-82T>G
ENST00000675275.1:c.551-82T>G (CAST)
ENST00000675479.1:c.1447-82T>G (CAST) ENSP00000502244.1:n.1447-82T>G
ENST00000675614.1:c.1504-82T>G (CAST) ENSP00000502136.1:n.1504-82T>G
ENST00000675663.1:c.1723-82T>G (CAST) ENSP00000502449.1:n.1723-82T>G
ENST00000675734.1:n.378-82T>G (CAST)
ENST00000675858.1:c.1378-82T>G (CAST) ENSP00000501780.1:n.1378-82T>G
ENST00000296754.7:c.*1008A>C (ERAP1) ENSP00000296754.3:n.*1008A>C
ENST00000309190.9:c.1519-82T>G (CAST) ENSP00000312523.5:n.1519-82T>G
ENST00000325674.11:c.754-82T>G (CAST) ENSP00000320319.8:n.754-82T>G
ENST00000338252.7:c.1546-82T>G (CAST) ENSP00000343421.3:n.1546-82T>G
ENST00000341926.7:c.1585-82T>G (CAST) ENSP00000339914.3:n.1585-82T>G
ENST00000348386.7:n.1527-82T>G (CAST)
ENST00000395812.6:c.1711-82T>G (CAST) ENSP00000379157.2:n.1711-82T>G
ENST00000395813.5:c.1585-82T>G (CAST) ENSP00000379158.2:n.1585-82T>G
ENST00000437034.6:c.840-82T>G (CAST)
ENST00000484552.5:c.812-82T>G (CAST)
ENST00000504465.5:c.1369-82T>G (CAST) ENSP00000425670.1:n.1369-82T>G
ENST00000508579.5:c.730-82T>G (CAST) ENSP00000425787.1:n.730-82T>G
ENST00000508608.5:c.1723-82T>G (CAST) ENSP00000422677.1:n.1723-82T>G
ENST00000508830.5:c.1834-82T>G (CAST) ENSP00000425721.1:n.1834-82T>G
ENST00000509903.5:c.1480-82T>G (CAST) ENSP00000426946.1:n.1480-82T>G
ENST00000510098.1:c.70-82T>G (CAST) ENSP00000427195.1:n.70-82T>G
ENST00000510156.5:c.1585-82T>G (CAST) ENSP00000422325.1:n.1585-82T>G
ENST00000510500.5:c.857-82T>G (CAST)
ENST00000510756.5:c.1768-82T>G (CAST) ENSP00000422176.1:n.1768-82T>G
ENST00000511049.5:c.1543-82T>G (CAST) ENSP00000421130.1:n.1543-82T>G
ENST00000511782.5:c.1543-82T>G (CAST) ENSP00000423638.1:n.1543-82T>G
ENST00000515663.5:c.754-82T>G (CAST) ENSP00000422929.1:n.754-82T>G
NM_001042440.3:c.1711-82T>G (CAST) NP_001035905.1:n.1711-82T>G
NM_001190442.1:c.1546-82T>G (CAST) NP_001177371.1:n.1546-82T>G
NM_001284212.1:c.1462-82T>G (CAST) NP_001271141.1:n.1462-82T>G
NM_001284213.1:c.1369-82T>G (CAST) NP_001271142.1:n.1369-82T>G
NM_016442.3:c.*1008A>C (ERAP1) NP_057526.3:n.*1008A>C
NM_173060.3:c.1519-82T>G (CAST) NP_775083.1:n.1519-82T>G
NR_104285.1:n.841-82T>G (CAST)
XM_006714696.2:c.1834-82T>G (CAST) XP_006714759.1:n.1834-82T>G
XM_006714697.2:c.1834-82T>G (CAST) XP_006714760.1:n.1834-82T>G
XM_006714698.2:c.1795-82T>G (CAST) XP_006714761.1:n.1795-82T>G
XM_006714699.2:c.1789-82T>G (CAST) XP_006714762.1:n.1789-82T>G
XM_006714700.2:c.1777-82T>G (CAST) XP_006714763.1:n.1777-82T>G
XM_006714701.2:c.1768-82T>G (CAST) XP_006714764.1:n.1768-82T>G
XM_006714702.2:c.1732-82T>G (CAST) XP_006714765.1:n.1732-82T>G
XM_006714703.2:c.1729-82T>G (CAST) XP_006714766.1:n.1729-82T>G
XM_006714704.2:c.1723-82T>G (CAST) XP_006714767.1:n.1723-82T>G
XM_006714705.2:c.1711-82T>G (CAST) XP_006714768.1:n.1711-82T>G
XM_006714706.2:c.1666-82T>G (CAST) XP_006714769.1:n.1666-82T>G
XM_006714707.2:c.1585-82T>G (CAST) XP_006714770.1:n.1585-82T>G
XM_006714708.2:c.1546-82T>G (CAST) XP_006714771.1:n.1546-82T>G
XM_006714709.2:c.1528-82T>G (CAST) XP_006714772.1:n.1528-82T>G
XM_006714710.2:c.1480-82T>G (CAST) XP_006714773.1:n.1480-82T>G
XM_006714711.2:c.1462-82T>G (CAST) XP_006714774.1:n.1462-82T>G
XM_006714712.2:c.1423-82T>G (CAST) XP_006714775.1:n.1423-82T>G
XM_006714713.2:c.754-82T>G (CAST) XP_006714776.1:n.754-82T>G
XM_006714714.2:c.754-82T>G (CAST) XP_006714777.1:n.754-82T>G
XM_006714715.2:c.730-82T>G (CAST) XP_006714778.1:n.730-82T>G
XM_011543654.1:c.1753-82T>G (CAST) XP_011541956.1:n.1753-82T>G
XM_011543655.1:c.1750-82T>G (CAST) XP_011541957.1:n.1750-82T>G
XM_011543656.1:c.1687-82T>G (CAST) XP_011541958.1:n.1687-82T>G
XM_011543657.1:c.1642-82T>G (CAST) XP_011541959.1:n.1642-82T>G
XM_011543658.1:c.1438-82T>G (CAST) XP_011541960.1:n.1438-82T>G
NM_001042440.4:c.1711-82T>G (CAST) NP_001035905.1:n.1711-82T>G
NM_001042441.2:c.1777-82T>G (CAST) NP_001035906.1:n.1777-82T>G
NM_001042442.2:c.1768-82T>G (CAST) NP_001035907.1:n.1768-82T>G
NM_001042443.2:c.1585-82T>G (CAST) NP_001035908.1:n.1585-82T>G
NM_001042444.2:c.1462-82T>G (CAST) NP_001035909.1:n.1462-82T>G
NM_001042445.2:c.1480-82T>G (CAST) NP_001035910.1:n.1480-82T>G
NM_001042446.2:c.1423-82T>G (CAST) NP_001035911.1:n.1423-82T>G
NM_001284212.3:c.1462-82T>G (CAST) NP_001271141.1:n.1462-82T>G
NM_001284213.3:c.1369-82T>G (CAST) NP_001271142.1:n.1369-82T>G
NM_001330626.1:c.1738-82T>G (CAST) NP_001317555.1:n.1738-82T>G
NM_001330627.1:c.1711-82T>G (CAST) NP_001317556.1:n.1711-82T>G
NM_001330628.1:c.1666-82T>G (CAST) NP_001317557.1:n.1666-82T>G
NM_001330629.1:c.1750-82T>G (CAST) NP_001317558.1:n.1750-82T>G
NM_001330630.1:c.1423-82T>G (CAST) NP_001317559.1:n.1423-82T>G
NM_001330631.1:c.1546-82T>G (CAST) NP_001317560.1:n.1546-82T>G
NM_001330632.1:c.1519-82T>G (CAST) NP_001317561.1:n.1519-82T>G
NM_001330633.1:c.1528-82T>G (CAST) NP_001317562.1:n.1528-82T>G
NM_001330634.1:c.1489-82T>G (CAST) NP_001317563.1:n.1489-82T>G
NM_001349244.1:c.*1008A>C (ERAP1) NP_001336173.1:n.*1008A>C
NM_001750.6:c.1834-82T>G (CAST) NP_001741.4:n.1834-82T>G
NM_016442.4:c.*1008A>C (ERAP1) NP_057526.3:n.*1008A>C
NM_173060.4:c.1519-82T>G (CAST) NP_775083.1:n.1519-82T>G
XR_001742119.2:n.3993A>C (ERAP1)
NM_001042440.5:c.1711-82T>G (CAST) NP_001035905.1:n.1711-82T>G
NM_001042441.3:c.1777-82T>G (CAST) NP_001035906.1:n.1777-82T>G
NM_001042442.3:c.1768-82T>G (CAST) NP_001035907.1:n.1768-82T>G
NM_001330626.2:c.1738-82T>G (CAST) NP_001317555.1:n.1738-82T>G
NM_001330627.2:c.1711-82T>G (CAST) NP_001317556.1:n.1711-82T>G
NM_001330628.2:c.1666-82T>G (CAST) NP_001317557.1:n.1666-82T>G
NM_001330629.2:c.1750-82T>G (CAST) NP_001317558.1:n.1750-82T>G
NM_001375317.1:c.1723-82T>G (CAST) NP_001362246.1:n.1723-82T>G
NM_001750.7:c.1834-82T>G (CAST) MANE Select NP_001741.4:n.1834-82T>G
NR_104285.2:n.779-82T>G (CAST)
NM_001042443.3:c.1585-82T>G (CAST) NP_001035908.1:n.1585-82T>G
NM_001042444.3:c.1462-82T>G (CAST) NP_001035909.1:n.1462-82T>G
NM_001042445.3:c.1480-82T>G (CAST) NP_001035910.1:n.1480-82T>G
NM_001042446.3:c.1423-82T>G (CAST) NP_001035911.1:n.1423-82T>G
NM_001190442.2:c.1546-82T>G (CAST) NP_001177371.1:n.1546-82T>G
NM_001284212.4:c.1462-82T>G (CAST) NP_001271141.1:n.1462-82T>G
NM_001284213.4:c.1369-82T>G (CAST) NP_001271142.1:n.1369-82T>G
NM_001330630.2:c.1423-82T>G (CAST) NP_001317559.1:n.1423-82T>G
NM_001330631.2:c.1546-82T>G (CAST) NP_001317560.1:n.1546-82T>G
NM_001330632.2:c.1519-82T>G (CAST) NP_001317561.1:n.1519-82T>G
NM_001330633.2:c.1528-82T>G (CAST) NP_001317562.1:n.1528-82T>G
NM_001330634.2:c.1489-82T>G (CAST) NP_001317563.1:n.1489-82T>G
NM_001349244.2:c.*1008A>C (ERAP1) NP_001336173.1:n.*1008A>C
NM_016442.5:c.*1008A>C (ERAP1) NP_057526.3:n.*1008A>C
NM_173060.5:c.1519-82T>G (CAST) NP_775083.1:n.1519-82T>G