Canonical Allele Identifier: CA411027304

Gene: HPS4

Linked Data

• MyVariant Identifiers: chr22:g.26860275C>T (hg19) ; chr22:g.26464309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26464309C>T , CM000684.2:g.26464309C>T	GRCh38
NC_000022.10:g.26860275C>T , CM000684.1:g.26860275C>T	GRCh37
NC_000022.9:g.25190275C>T	NCBI36
NG_009763.2:g.24555G>A , LRG_590:g.24555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1375G>A	ENSP00000415081.3:p.Glu459Lys
ENST00000473782.2:c.1321G>A	ENSP00000514223.1:p.Glu441Lys
ENST00000483631.2:c.526G>A	ENSP00000514228.1:p.Glu176Lys
ENST00000491142.2:c.1321G>A	ENSP00000514221.1:p.Glu441Lys
ENST00000699226.1:n.4247G>A
ENST00000699227.1:c.*665G>A	ENSP00000514220.1:n.*665G>A
ENST00000699228.1:n.1871G>A
ENST00000699229.1:n.738G>A
ENST00000699230.1:n.2044G>A
ENST00000699231.1:n.4333G>A
ENST00000699232.1:n.2677G>A
ENST00000699233.1:n.1192G>A
ENST00000699234.1:c.*665G>A	ENSP00000514222.1:n.*665G>A
ENST00000699235.1:c.526G>A	ENSP00000514224.1:p.Glu176Lys
ENST00000699236.1:c.*510G>A	ENSP00000514225.1:n.*510G>A
ENST00000699237.1:c.*510G>A	ENSP00000514226.1:n.*510G>A
ENST00000699238.1:c.*864G>A	ENSP00000514227.1:n.*864G>A
ENST00000699239.1:n.4075G>A
ENST00000699240.1:c.*978G>A	ENSP00000514229.1:n.*978G>A
ENST00000699241.1:c.*1513G>A	ENSP00000514230.1:n.*1513G>A
ENST00000699242.1:c.1231G>A	ENSP00000514231.1:p.Glu411Lys
ENST00000699243.1:c.*665G>A	ENSP00000514232.1:n.*665G>A
ENST00000699244.1:c.1174G>A	ENSP00000514233.1:p.Glu392Lys
ENST00000699246.1:c.*692G>A	ENSP00000514234.1:n.*692G>A
ENST00000699247.1:c.669+4242G>A	ENSP00000514235.1:n.669+4242G>A
ENST00000699248.1:n.3391G>A
ENST00000699249.1:c.*665G>A	ENSP00000514236.1:n.*665G>A
ENST00000699250.1:c.1321G>A	ENSP00000514237.1:p.Glu441Lys
ENST00000699251.1:c.1321G>A	ENSP00000514238.1:p.Glu441Lys
ENST00000699252.1:n.1871G>A
ENST00000398145.7:c.1321G>A MANE Select	ENSP00000381213.2:p.Glu441Lys
ENST00000336873.9:c.1321G>A	ENSP00000338457.5:p.Glu441Lys
ENST00000398145.6:c.1321G>A	ENSP00000381213.2:p.Glu441Lys
ENST00000402105.7:c.1306G>A	ENSP00000384185.3:p.Glu436Lys
ENST00000422379.2:c.1375G>A	ENSP00000415081.2:p.Glu459Lys
ENST00000429411.5:c.*893G>A	ENSP00000399705.1:n.*893G>A
ENST00000439453.5:c.*839G>A	ENSP00000406764.1:n.*839G>A
ENST00000464362.5:c.*1652G>A	ENSP00000430291.1:n.*1652G>A
ENST00000466781.5:n.4180G>A
ENST00000485842.5:n.404+4242G>A
ENST00000496385.5:n.2087G>A
NM_022081.5:c.1321G>A , LRG_590t1:c.1321G>A	NP_071364.4:p.Glu441Lys
NM_152841.2:c.1306G>A , LRG_590t2:c.1306G>A	NP_690054.1:p.Glu436Lys
NR_073135.1:n.2007G>A
NR_073136.1:n.1769G>A
XM_006724353.2:c.1375G>A	XP_006724416.1:p.Glu459Lys
XM_006724354.2:c.1375G>A	XP_006724417.1:p.Glu459Lys
XM_006724360.2:c.808G>A	XP_006724423.1:p.Glu270Lys
XM_011530485.1:c.1453G>A	XP_011528787.1:p.Glu485Lys
XM_011530486.1:c.1453G>A	XP_011528788.1:p.Glu485Lys
XM_011530487.1:c.1453G>A	XP_011528789.1:p.Glu485Lys
XM_011530488.1:c.1453G>A	XP_011528790.1:p.Glu485Lys
XM_011530489.1:c.1453G>A	XP_011528791.1:p.Glu485Lys
XM_011530490.1:c.1399G>A	XP_011528792.1:p.Glu467Lys
XM_011530491.1:c.1453G>A	XP_011528793.1:p.Glu485Lys
XM_011530492.1:c.1453G>A	XP_011528794.1:p.Glu485Lys
XM_011530493.1:c.1453G>A	XP_011528795.1:p.Glu485Lys
XM_011530494.1:c.661G>A	XP_011528796.1:p.Glu221Lys
XM_011530495.1:c.808G>A	XP_011528797.1:p.Glu270Lys
XM_011530496.1:c.661G>A	XP_011528798.1:p.Glu221Lys
XR_937947.1:n.2112G>A
NM_001349896.1:c.1321G>A	NP_001336825.1:p.Glu441Lys
NM_001349898.1:c.1321G>A	NP_001336827.1:p.Glu441Lys
NM_001349899.1:c.1321G>A	NP_001336828.1:p.Glu441Lys
NM_001349900.1:c.1375G>A	NP_001336829.1:p.Glu459Lys
NM_001349901.1:c.1375G>A	NP_001336830.1:p.Glu459Lys
NM_001349902.1:c.1321G>A	NP_001336831.1:p.Glu441Lys
NM_001349903.1:c.1321G>A	NP_001336832.1:p.Glu441Lys
NM_001349904.1:c.1321G>A	NP_001336833.1:p.Glu441Lys
NM_001349905.1:c.1321G>A	NP_001336834.1:p.Glu441Lys
NR_146311.1:n.2098G>A
NR_146312.1:n.1923G>A
NR_146313.1:n.1943G>A
NR_146314.1:n.2074G>A
NR_146315.1:n.2014G>A
NR_146316.1:n.1989G>A
XM_006724360.3:c.808G>A	XP_006724423.1:p.Glu270Lys
XM_011530485.2:c.1453G>A	XP_011528787.1:p.Glu485Lys
XM_011530486.2:c.1453G>A	XP_011528788.1:p.Glu485Lys
XM_011530487.2:c.1453G>A	XP_011528789.1:p.Glu485Lys
XM_011530488.2:c.1453G>A	XP_011528790.1:p.Glu485Lys
XM_011530489.2:c.1453G>A	XP_011528791.1:p.Glu485Lys
XM_011530490.3:c.1399G>A	XP_011528792.1:p.Glu467Lys
XM_011530491.3:c.1453G>A	XP_011528793.1:p.Glu485Lys
XM_011530492.2:c.1453G>A	XP_011528794.1:p.Glu485Lys
XM_011530493.3:c.1453G>A	XP_011528795.1:p.Glu485Lys
XM_011530494.2:c.661G>A	XP_011528796.1:p.Glu221Lys
XM_011530495.2:c.808G>A	XP_011528797.1:p.Glu270Lys
XM_011530496.2:c.661G>A	XP_011528798.1:p.Glu221Lys
XM_017029045.2:c.1399G>A	XP_016884534.1:p.Glu467Lys
XM_017029046.2:c.1321G>A	XP_016884535.1:p.Glu441Lys
XM_017029047.2:c.1399G>A	XP_016884536.1:p.Glu467Lys
XM_017029052.2:c.913G>A	XP_016884541.1:p.Glu305Lys
XM_017029053.1:c.898G>A	XP_016884542.1:p.Glu300Lys
XM_017029056.2:c.526G>A	XP_016884545.1:p.Glu176Lys
XM_017029061.2:c.526G>A	XP_016884550.1:p.Glu176Lys
XM_017029062.2:c.526G>A	XP_016884551.1:p.Glu176Lys
XM_017029063.2:c.526G>A	XP_016884552.1:p.Glu176Lys
XM_017029064.2:c.526G>A	XP_016884553.1:p.Glu176Lys
XM_024452298.1:c.694G>A	XP_024308066.1:p.Glu232Lys
XM_024452299.1:c.526G>A	XP_024308067.1:p.Glu176Lys
XM_024452300.1:c.526G>A	XP_024308068.1:p.Glu176Lys
XR_001755361.2:n.2029G>A
XR_001755364.1:n.1885G>A
XR_001755366.2:n.2558G>A
XR_002958721.1:n.2107G>A
XR_937947.2:n.2107G>A
NM_001349898.2:c.1321G>A	NP_001336827.1:p.Glu441Lys
NM_001349899.2:c.1321G>A	NP_001336828.1:p.Glu441Lys
NM_001349900.2:c.1375G>A	NP_001336829.1:p.Glu459Lys
NM_001349903.2:c.1321G>A	NP_001336832.1:p.Glu441Lys
NM_001349904.2:c.1321G>A	NP_001336833.1:p.Glu441Lys
NR_073136.2:n.1576G>A
NR_146311.2:n.2018G>A
NR_146313.2:n.1863G>A
NR_146315.2:n.1934G>A
NM_022081.6:c.1321G>A MANE Select	NP_071364.4:p.Glu441Lys
NR_146316.2:n.1909G>A