Canonical Allele Identifier: CA2399204989
Community Standard Title: NM_022081.6(HPS4):c.888C= (p.Asn296=)
Gene: HPS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26464742G= , CM000684.2:g.26464742G= GRCh38
NC_000022.10:g.26860708G= , CM000684.1:g.26860708G= GRCh37
NC_000022.9:g.25190708G= NCBI36
NG_009763.2:g.24122C= , LRG_590:g.24122C=

Transcript Alleles

HGVS Amino-acid Change
NM_022081.6:c.888C= MANE Select NP_071364.4:p.Asn296=
ENST00000398145.7:c.888C= MANE Select ENSP00000381213.2:p.Asn296=
NM_001349896.1:c.888C= NP_001336825.1:p.Asn296=
NM_001349898.1:c.888C= NP_001336827.1:p.Asn296=
NM_001349898.2:c.888C= NP_001336827.1:p.Asn296=
NM_001349899.1:c.888C= NP_001336828.1:p.Asn296=
NM_001349899.2:c.888C= NP_001336828.1:p.Asn296=
NM_001349900.1:c.942C= NP_001336829.1:p.Asn314=
NM_001349900.2:c.942C= NP_001336829.1:p.Asn314=
NM_001349901.1:c.942C= NP_001336830.1:p.Asn314=
NM_001349902.1:c.888C= NP_001336831.1:p.Asn296=
NM_001349903.1:c.888C= NP_001336832.1:p.Asn296=
NM_001349903.2:c.888C= NP_001336832.1:p.Asn296=
NM_001349904.1:c.888C= NP_001336833.1:p.Asn296=
NM_001349904.2:c.888C= NP_001336833.1:p.Asn296=
NM_001349905.1:c.888C= NP_001336834.1:p.Asn296=
NM_022081.5:c.888C= , LRG_590t1:c.888C= NP_071364.4:p.Asn296=
NM_152841.2:c.873C= , LRG_590t2:c.873C= NP_690054.1:p.Asn291=
NR_073135.1:n.1574C=
NR_073136.1:n.1336C=
NR_073136.2:n.1143C=
NR_146311.1:n.1665C=
NR_146311.2:n.1585C=
NR_146312.1:n.1490C=
NR_146313.1:n.1510C=
NR_146313.2:n.1430C=
NR_146314.1:n.1641C=
NR_146315.1:n.1581C=
NR_146315.2:n.1501C=
NR_146316.1:n.1556C=
NR_146316.2:n.1476C=
ENST00000336873.9:c.888C= ENSP00000338457.5:p.Asn296=
ENST00000398145.6:c.888C= ENSP00000381213.2:p.Asn296=
ENST00000402105.7:c.873C= ENSP00000384185.3:p.Asn291=
ENST00000422379.2:c.942C= ENSP00000415081.2:p.Asn314=
ENST00000422379.3:c.942C= ENSP00000415081.3:p.Asn314=
ENST00000429411.5:c.*460C= ENSP00000399705.1:n.*460C=
ENST00000439453.5:c.*406C= ENSP00000406764.1:n.*406C=
ENST00000464362.5:c.*1219C= ENSP00000430291.1:n.*1219C=
ENST00000466781.5:n.3747C=
ENST00000473782.2:c.888C= ENSP00000514223.1:p.Asn296=
ENST00000483631.2:c.93C= ENSP00000514228.1:p.Asn31=
ENST00000485842.5:n.404+3809C=
ENST00000491142.2:c.888C= ENSP00000514221.1:p.Asn296=
ENST00000496385.5:n.1654C=
ENST00000699226.1:n.3814C=
ENST00000699227.1:c.*232C= ENSP00000514220.1:n.*232C=
ENST00000699228.1:n.1438C=
ENST00000699229.1:n.305C=
ENST00000699230.1:n.1611C=
ENST00000699231.1:n.3900C=
ENST00000699232.1:n.2244C=
ENST00000699233.1:n.759C=
ENST00000699234.1:c.*232C= ENSP00000514222.1:n.*232C=
ENST00000699235.1:c.93C= ENSP00000514224.1:p.Asn31=
ENST00000699236.1:c.*77C= ENSP00000514225.1:n.*77C=
ENST00000699237.1:c.*77C= ENSP00000514226.1:n.*77C=
ENST00000699238.1:c.*431C= ENSP00000514227.1:n.*431C=
ENST00000699239.1:n.3642C=
ENST00000699240.1:c.*545C= ENSP00000514229.1:n.*545C=
ENST00000699241.1:c.*1080C= ENSP00000514230.1:n.*1080C=
ENST00000699242.1:c.798C= ENSP00000514231.1:p.Asn266=
ENST00000699243.1:c.*232C= ENSP00000514232.1:n.*232C=
ENST00000699244.1:c.888C= ENSP00000514233.1:p.Asn296=
ENST00000699246.1:c.*406C= ENSP00000514234.1:n.*406C=
ENST00000699247.1:c.669+3809C= ENSP00000514235.1:n.669+3809C=
ENST00000699248.1:n.2958C=
ENST00000699249.1:c.*232C= ENSP00000514236.1:n.*232C=
ENST00000699250.1:c.888C= ENSP00000514237.1:p.Asn296=
ENST00000699251.1:c.888C= ENSP00000514238.1:p.Asn296=
ENST00000699252.1:n.1438C=
XM_006724353.2:c.942C= XP_006724416.1:p.Asn314=
XM_006724354.2:c.942C= XP_006724417.1:p.Asn314=
XM_006724360.2:c.375C= XP_006724423.1:p.Asn125=
XM_006724360.3:c.375C= XP_006724423.1:p.Asn125=
XM_011530485.1:c.1020C= XP_011528787.1:p.Asn340=
XM_011530485.2:c.1020C= XP_011528787.1:p.Asn340=
XM_011530486.1:c.1020C= XP_011528788.1:p.Asn340=
XM_011530486.2:c.1020C= XP_011528788.1:p.Asn340=
XM_011530487.1:c.1020C= XP_011528789.1:p.Asn340=
XM_011530487.2:c.1020C= XP_011528789.1:p.Asn340=
XM_011530488.1:c.1020C= XP_011528790.1:p.Asn340=
XM_011530488.2:c.1020C= XP_011528790.1:p.Asn340=
XM_011530489.1:c.1020C= XP_011528791.1:p.Asn340=
XM_011530489.2:c.1020C= XP_011528791.1:p.Asn340=
XM_011530490.1:c.966C= XP_011528792.1:p.Asn322=
XM_011530490.3:c.966C= XP_011528792.1:p.Asn322=
XM_011530491.1:c.1020C= XP_011528793.1:p.Asn340=
XM_011530491.3:c.1020C= XP_011528793.1:p.Asn340=
XM_011530492.1:c.1020C= XP_011528794.1:p.Asn340=
XM_011530492.2:c.1020C= XP_011528794.1:p.Asn340=
XM_011530493.1:c.1020C= XP_011528795.1:p.Asn340=
XM_011530493.3:c.1020C= XP_011528795.1:p.Asn340=
XM_011530494.1:c.228C= XP_011528796.1:p.Asn76=
XM_011530494.2:c.228C= XP_011528796.1:p.Asn76=
XM_011530495.1:c.375C= XP_011528797.1:p.Asn125=
XM_011530495.2:c.375C= XP_011528797.1:p.Asn125=
XM_011530496.1:c.228C= XP_011528798.1:p.Asn76=
XM_011530496.2:c.228C= XP_011528798.1:p.Asn76=
XM_017029045.2:c.966C= XP_016884534.1:p.Asn322=
XM_017029046.2:c.888C= XP_016884535.1:p.Asn296=
XM_017029047.2:c.966C= XP_016884536.1:p.Asn322=
XM_017029052.2:c.480C= XP_016884541.1:p.Asn160=
XM_017029053.1:c.465C= XP_016884542.1:p.Asn155=
XM_017029056.2:c.93C= XP_016884545.1:p.Asn31=
XM_017029061.2:c.93C= XP_016884550.1:p.Asn31=
XM_017029062.2:c.93C= XP_016884551.1:p.Asn31=
XM_017029063.2:c.93C= XP_016884552.1:p.Asn31=
XM_017029064.2:c.93C= XP_016884553.1:p.Asn31=
XM_024452298.1:c.261C= XP_024308066.1:p.Asn87=
XM_024452299.1:c.93C= XP_024308067.1:p.Asn31=
XM_024452300.1:c.93C= XP_024308068.1:p.Asn31=
XR_001755361.2:n.1596C=
XR_001755364.1:n.1452C=
XR_001755366.2:n.2125C=
XR_002958721.1:n.1674C=
XR_937947.1:n.1679C=
XR_937947.2:n.1674C=