Canonical Allele Identifier: CA7900133
Community Standard Title: NM_000246.4(CIITA):c.1461C>G (p.Ile487Met)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10906953C>G , CM000678.2:g.10906953C>G GRCh38
NC_000016.9:g.11000810C>G , CM000678.1:g.11000810C>G GRCh37
NC_000016.8:g.10908311C>G NCBI36
NG_009628.1:g.34756C>G , LRG_49:g.34756C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.1461C>G MANE Select NP_000237.2:p.Ile487Met
ENST00000324288.14:c.1461C>G MANE Select ENSP00000316328.8:p.Ile487Met
NM_000246.3:c.1461C>G , LRG_49t1:c.1461C>G NP_000237.2:p.Ile487Met
NM_001286402.1:c.1464C>G NP_001273331.1:p.Ile488Met
NM_001286403.1:c.860-2030C>G NP_001273332.1:n.860-2030C>G
NM_001286403.2:c.860-2030C>G NP_001273332.1:n.860-2030C>G
NM_001379330.1:c.1317C>G NP_001366259.1:p.Ile439Met
NM_001379331.1:c.1314C>G NP_001366260.1:p.Ile438Met
NM_001379332.1:c.1464C>G NP_001366261.1:p.Ile488Met
NM_001379333.1:c.1461C>G NP_001366262.1:p.Ile487Met
NM_001379334.1:c.1392C>G NP_001366263.1:p.Ile464Met
NR_104444.1:n.1139+2141C>G
NR_104444.2:n.1135+2141C>G
ENST00000324288.12:c.1461C>G ENSP00000316328.8:p.Ile487Met
ENST00000381835.9:c.860-2030C>G ENSP00000371257.5:n.860-2030C>G
ENST00000537380.1:n.1006+2141C>G
ENST00000570546.5:n.1582C>G
ENST00000573309.5:n.1432C>G
ENST00000611587.4:c.1317C>G ENSP00000483487.1:p.Ile439Met
ENST00000618207.4:c.1006+2141C>G ENSP00000484761.1:n.1006+2141C>G
ENST00000618327.4:c.1464C>G ENSP00000485010.1:p.Ile488Met
ENST00000695879.1:n.1355C>G
XM_006720880.2:c.1758C>G XP_006720943.2:p.Ile586Met
XM_006720880.3:c.1758C>G XP_006720943.2:p.Ile586Met
XM_011522484.1:c.1758C>G XP_011520786.1:p.Ile586Met
XM_011522484.3:c.1758C>G XP_011520786.1:p.Ile586Met
XM_011522485.1:c.1758C>G XP_011520787.1:p.Ile586Met
XM_011522485.2:c.1758C>G XP_011520787.1:p.Ile586Met
XM_011522486.1:c.1758C>G XP_011520788.1:p.Ile586Met
XM_011522486.2:c.1758C>G XP_011520788.1:p.Ile586Met
XM_011522487.1:c.1512C>G XP_011520789.1:p.Ile504Met
XM_011522487.2:c.1512C>G XP_011520789.1:p.Ile504Met
XM_011522488.1:c.1509C>G XP_011520790.1:p.Ile503Met
XM_011522488.2:c.1509C>G XP_011520790.1:p.Ile503Met
XM_011522489.1:c.1509C>G XP_011520791.1:p.Ile503Met
XM_011522489.2:c.1509C>G XP_011520791.1:p.Ile503Met
XM_011522490.1:c.1506C>G XP_011520792.1:p.Ile502Met
XM_011522490.2:c.1506C>G XP_011520792.1:p.Ile502Met
XM_011522491.1:c.1758C>G XP_011520793.1:p.Ile586Met
XM_011522491.2:c.1758C>G XP_011520793.1:p.Ile586Met
XM_011522492.1:c.1464C>G XP_011520794.1:p.Ile488Met
XM_011522492.2:c.1464C>G XP_011520794.1:p.Ile488Met
XM_011522493.1:c.1461C>G XP_011520795.1:p.Ile487Met
XM_011522493.2:c.1461C>G XP_011520795.1:p.Ile487Met
XM_011522494.1:c.1392C>G XP_011520796.1:p.Ile464Met
XM_011522494.2:c.1392C>G XP_011520796.1:p.Ile464Met
XM_011522495.1:c.1317C>G XP_011520797.1:p.Ile439Met
XM_011522495.2:c.1317C>G XP_011520797.1:p.Ile439Met
XM_011522496.1:c.1314C>G XP_011520798.1:p.Ile438Met
XM_011522496.2:c.1314C>G XP_011520798.1:p.Ile438Met
XM_024450280.1:c.1704C>G XP_024306048.1:p.Ile568Met
XM_024450281.1:c.1557C>G XP_024306049.1:p.Ile519Met
XR_001751904.1:n.1777C>G
XR_932841.1:n.1773C>G
XR_932841.3:n.1775C>G
XR_932842.1:n.1773C>G
XR_932842.2:n.1775C>G
XR_932843.1:n.1773C>G
XR_932846.1:n.1773C>G
XR_932846.3:n.1777C>G
XR_932847.1:n.1773C>G
XR_932847.3:n.1777C>G
XR_932848.1:n.1010-2030C>G