Canonical Allele Identifier: CA10163370

Gene: HPS4

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26464398C>T , CM000684.2:g.26464398C>T	GRCh38
NC_000022.10:g.26860364C>T , CM000684.1:g.26860364C>T	GRCh37
NC_000022.9:g.25190364C>T	NCBI36
NG_009763.2:g.24466G>A , LRG_590:g.24466G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022081.6:c.1232G>A MANE Select	NP_071364.4:p.Ser411Asn
ENST00000398145.7:c.1232G>A MANE Select	ENSP00000381213.2:p.Ser411Asn
NM_001349896.1:c.1232G>A	NP_001336825.1:p.Ser411Asn
NM_001349898.1:c.1232G>A	NP_001336827.1:p.Ser411Asn
NM_001349898.2:c.1232G>A	NP_001336827.1:p.Ser411Asn
NM_001349899.1:c.1232G>A	NP_001336828.1:p.Ser411Asn
NM_001349899.2:c.1232G>A	NP_001336828.1:p.Ser411Asn
NM_001349900.1:c.1286G>A	NP_001336829.1:p.Ser429Asn
NM_001349900.2:c.1286G>A	NP_001336829.1:p.Ser429Asn
NM_001349901.1:c.1286G>A	NP_001336830.1:p.Ser429Asn
NM_001349902.1:c.1232G>A	NP_001336831.1:p.Ser411Asn
NM_001349903.1:c.1232G>A	NP_001336832.1:p.Ser411Asn
NM_001349903.2:c.1232G>A	NP_001336832.1:p.Ser411Asn
NM_001349904.1:c.1232G>A	NP_001336833.1:p.Ser411Asn
NM_001349904.2:c.1232G>A	NP_001336833.1:p.Ser411Asn
NM_001349905.1:c.1232G>A	NP_001336834.1:p.Ser411Asn
NM_022081.5:c.1232G>A , LRG_590t1:c.1232G>A	NP_071364.4:p.Ser411Asn
NM_152841.2:c.1217G>A , LRG_590t2:c.1217G>A	NP_690054.1:p.Ser406Asn
NR_073135.1:n.1918G>A
NR_073136.1:n.1680G>A
NR_073136.2:n.1487G>A
NR_146311.1:n.2009G>A
NR_146311.2:n.1929G>A
NR_146312.1:n.1834G>A
NR_146313.1:n.1854G>A
NR_146313.2:n.1774G>A
NR_146314.1:n.1985G>A
NR_146315.1:n.1925G>A
NR_146315.2:n.1845G>A
NR_146316.1:n.1900G>A
NR_146316.2:n.1820G>A
ENST00000336873.9:c.1232G>A	ENSP00000338457.5:p.Ser411Asn
ENST00000398145.6:c.1232G>A	ENSP00000381213.2:p.Ser411Asn
ENST00000402105.7:c.1217G>A	ENSP00000384185.3:p.Ser406Asn
ENST00000422379.2:c.1286G>A	ENSP00000415081.2:p.Ser429Asn
ENST00000422379.3:c.1286G>A	ENSP00000415081.3:p.Ser429Asn
ENST00000429411.5:c.*804G>A	ENSP00000399705.1:n.*804G>A
ENST00000439453.5:c.*750G>A	ENSP00000406764.1:n.*750G>A
ENST00000464362.5:c.*1563G>A	ENSP00000430291.1:n.*1563G>A
ENST00000466781.5:n.4091G>A
ENST00000473782.2:c.1232G>A	ENSP00000514223.1:p.Ser411Asn
ENST00000483631.2:c.437G>A	ENSP00000514228.1:p.Ser146Asn
ENST00000485842.5:n.404+4153G>A
ENST00000491142.2:c.1232G>A	ENSP00000514221.1:p.Ser411Asn
ENST00000496385.5:n.1998G>A
ENST00000699226.1:n.4158G>A
ENST00000699227.1:c.*576G>A	ENSP00000514220.1:n.*576G>A
ENST00000699228.1:n.1782G>A
ENST00000699229.1:n.649G>A
ENST00000699230.1:n.1955G>A
ENST00000699231.1:n.4244G>A
ENST00000699232.1:n.2588G>A
ENST00000699233.1:n.1103G>A
ENST00000699234.1:c.*576G>A	ENSP00000514222.1:n.*576G>A
ENST00000699235.1:c.437G>A	ENSP00000514224.1:p.Ser146Asn
ENST00000699236.1:c.*421G>A	ENSP00000514225.1:n.*421G>A
ENST00000699237.1:c.*421G>A	ENSP00000514226.1:n.*421G>A
ENST00000699238.1:c.*775G>A	ENSP00000514227.1:n.*775G>A
ENST00000699239.1:n.3986G>A
ENST00000699240.1:c.*889G>A	ENSP00000514229.1:n.*889G>A
ENST00000699241.1:c.*1424G>A	ENSP00000514230.1:n.*1424G>A
ENST00000699242.1:c.1142G>A	ENSP00000514231.1:p.Ser381Asn
ENST00000699243.1:c.*576G>A	ENSP00000514232.1:n.*576G>A
ENST00000699244.1:c.1085G>A	ENSP00000514233.1:p.Ser362Asn
ENST00000699246.1:c.*603G>A	ENSP00000514234.1:n.*603G>A
ENST00000699247.1:c.669+4153G>A	ENSP00000514235.1:n.669+4153G>A
ENST00000699248.1:n.3302G>A
ENST00000699249.1:c.*576G>A	ENSP00000514236.1:n.*576G>A
ENST00000699250.1:c.1232G>A	ENSP00000514237.1:p.Ser411Asn
ENST00000699251.1:c.1232G>A	ENSP00000514238.1:p.Ser411Asn
ENST00000699252.1:n.1782G>A
XM_006724353.2:c.1286G>A	XP_006724416.1:p.Ser429Asn
XM_006724354.2:c.1286G>A	XP_006724417.1:p.Ser429Asn
XM_006724360.2:c.719G>A	XP_006724423.1:p.Ser240Asn
XM_006724360.3:c.719G>A	XP_006724423.1:p.Ser240Asn
XM_011530485.1:c.1364G>A	XP_011528787.1:p.Ser455Asn
XM_011530485.2:c.1364G>A	XP_011528787.1:p.Ser455Asn
XM_011530486.1:c.1364G>A	XP_011528788.1:p.Ser455Asn
XM_011530486.2:c.1364G>A	XP_011528788.1:p.Ser455Asn
XM_011530487.1:c.1364G>A	XP_011528789.1:p.Ser455Asn
XM_011530487.2:c.1364G>A	XP_011528789.1:p.Ser455Asn
XM_011530488.1:c.1364G>A	XP_011528790.1:p.Ser455Asn
XM_011530488.2:c.1364G>A	XP_011528790.1:p.Ser455Asn
XM_011530489.1:c.1364G>A	XP_011528791.1:p.Ser455Asn
XM_011530489.2:c.1364G>A	XP_011528791.1:p.Ser455Asn
XM_011530490.1:c.1310G>A	XP_011528792.1:p.Ser437Asn
XM_011530490.3:c.1310G>A	XP_011528792.1:p.Ser437Asn
XM_011530491.1:c.1364G>A	XP_011528793.1:p.Ser455Asn
XM_011530491.3:c.1364G>A	XP_011528793.1:p.Ser455Asn
XM_011530492.1:c.1364G>A	XP_011528794.1:p.Ser455Asn
XM_011530492.2:c.1364G>A	XP_011528794.1:p.Ser455Asn
XM_011530493.1:c.1364G>A	XP_011528795.1:p.Ser455Asn
XM_011530493.3:c.1364G>A	XP_011528795.1:p.Ser455Asn
XM_011530494.1:c.572G>A	XP_011528796.1:p.Ser191Asn
XM_011530494.2:c.572G>A	XP_011528796.1:p.Ser191Asn
XM_011530495.1:c.719G>A	XP_011528797.1:p.Ser240Asn
XM_011530495.2:c.719G>A	XP_011528797.1:p.Ser240Asn
XM_011530496.1:c.572G>A	XP_011528798.1:p.Ser191Asn
XM_011530496.2:c.572G>A	XP_011528798.1:p.Ser191Asn
XM_017029045.2:c.1310G>A	XP_016884534.1:p.Ser437Asn
XM_017029046.2:c.1232G>A	XP_016884535.1:p.Ser411Asn
XM_017029047.2:c.1310G>A	XP_016884536.1:p.Ser437Asn
XM_017029052.2:c.824G>A	XP_016884541.1:p.Ser275Asn
XM_017029053.1:c.809G>A	XP_016884542.1:p.Ser270Asn
XM_017029056.2:c.437G>A	XP_016884545.1:p.Ser146Asn
XM_017029061.2:c.437G>A	XP_016884550.1:p.Ser146Asn
XM_017029062.2:c.437G>A	XP_016884551.1:p.Ser146Asn
XM_017029063.2:c.437G>A	XP_016884552.1:p.Ser146Asn
XM_017029064.2:c.437G>A	XP_016884553.1:p.Ser146Asn
XM_024452298.1:c.605G>A	XP_024308066.1:p.Ser202Asn
XM_024452299.1:c.437G>A	XP_024308067.1:p.Ser146Asn
XM_024452300.1:c.437G>A	XP_024308068.1:p.Ser146Asn
XR_001755361.2:n.1940G>A
XR_001755364.1:n.1796G>A
XR_001755366.2:n.2469G>A
XR_002958721.1:n.2018G>A
XR_937947.1:n.2023G>A
XR_937947.2:n.2018G>A