Canonical Allele Identifier: CA2399201808

Gene: HPS4

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457934C= , CM000684.2:g.26457934C=	GRCh38
NC_000022.10:g.26853900C= , CM000684.1:g.26853900C=	GRCh37
NC_000022.9:g.25183900C=	NCBI36
NG_009763.2:g.30930G= , LRG_590:g.30930G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1934G=	ENSP00000415081.3:p.Arg645=
ENST00000473782.2:c.1880G=	ENSP00000514223.1:p.Arg627=
ENST00000483631.2:c.1085G=	ENSP00000514228.1:p.Arg362=
ENST00000491142.2:c.1880G=	ENSP00000514221.1:p.Arg627=
ENST00000699226.1:n.4806G=
ENST00000699227.1:c.*1224G=	ENSP00000514220.1:n.*1224G=
ENST00000699228.1:n.2430G=
ENST00000699229.1:n.1297G=
ENST00000699230.1:n.2603G=
ENST00000699231.1:n.4892G=
ENST00000699232.1:n.3236G=
ENST00000699233.1:n.1751G=
ENST00000699234.1:c.*1224G=	ENSP00000514222.1:n.*1224G=
ENST00000699235.1:c.1085G=	ENSP00000514224.1:p.Arg362=
ENST00000699236.1:c.*1069G=	ENSP00000514225.1:n.*1069G=
ENST00000699237.1:c.*1069G=	ENSP00000514226.1:n.*1069G=
ENST00000699238.1:c.*1423G=	ENSP00000514227.1:n.*1423G=
ENST00000699239.1:n.4634G=
ENST00000699240.1:c.*1537G=	ENSP00000514229.1:n.*1537G=
ENST00000699241.1:c.*2072G=	ENSP00000514230.1:n.*2072G=
ENST00000699242.1:c.1790G=	ENSP00000514231.1:p.Arg597=
ENST00000699243.1:c.*1224G=	ENSP00000514232.1:n.*1224G=
ENST00000699244.1:c.1733G=	ENSP00000514233.1:p.Arg578=
ENST00000699245.1:n.1172G=
ENST00000699246.1:c.*1251G=	ENSP00000514234.1:n.*1251G=
ENST00000699247.1:c.836G=	ENSP00000514235.1:p.Arg279=
ENST00000699248.1:n.3784-4530G=
ENST00000699249.1:c.*1058-4530G=	ENSP00000514236.1:n.*1058-4530G=
ENST00000699250.1:c.1714-4530G=	ENSP00000514237.1:n.1714-4530G=
ENST00000699251.1:c.1880G=	ENSP00000514238.1:p.Arg627=
ENST00000699252.1:n.2430G=
ENST00000398145.7:c.1880G= MANE Select	ENSP00000381213.2:p.Arg627=
ENST00000336873.9:c.1880G=	ENSP00000338457.5:p.Arg627=
ENST00000398145.6:c.1880G=	ENSP00000381213.2:p.Arg627=
ENST00000402105.7:c.1865G=	ENSP00000384185.3:p.Arg622=
ENST00000429411.5:c.*1452G=	ENSP00000399705.1:n.*1452G=
ENST00000439453.5:c.*1398G=	ENSP00000406764.1:n.*1398G=
ENST00000464362.5:c.*2211G=	ENSP00000430291.1:n.*2211G=
ENST00000466781.5:n.4739G=
ENST00000485842.5:n.571G=
ENST00000493455.6:n.443G=
ENST00000496385.5:n.2480-4530G=
ENST00000519774.5:n.266G=
NM_022081.5:c.1880G= , LRG_590t1:c.1880G=	NP_071364.4:p.Arg627=
NM_152841.2:c.1865G= , LRG_590t2:c.1865G=	NP_690054.1:p.Arg622=
NR_073135.1:n.2566G=
NR_073136.1:n.2328G=
XM_006724353.2:c.1934G=	XP_006724416.1:p.Arg645=
XM_006724354.2:c.1934G=	XP_006724417.1:p.Arg645=
XM_006724360.2:c.1367G=	XP_006724423.1:p.Arg456=
XM_011530485.1:c.2012G=	XP_011528787.1:p.Arg671=
XM_011530486.1:c.2012G=	XP_011528788.1:p.Arg671=
XM_011530487.1:c.2012G=	XP_011528789.1:p.Arg671=
XM_011530488.1:c.2012G=	XP_011528790.1:p.Arg671=
XM_011530489.1:c.2012G=	XP_011528791.1:p.Arg671=
XM_011530490.1:c.1958G=	XP_011528792.1:p.Arg653=
XM_011530491.1:c.2012G=	XP_011528793.1:p.Arg671=
XM_011530492.1:c.2012G=	XP_011528794.1:p.Arg671=
XM_011530493.1:c.1846-4530G=	XP_011528795.1:n.1846-4530G=
XM_011530494.1:c.1220G=	XP_011528796.1:p.Arg407=
XM_011530495.1:c.1367G=	XP_011528797.1:p.Arg456=
XM_011530496.1:c.1220G=	XP_011528798.1:p.Arg407=
XR_937947.1:n.2671G=
NM_001349896.1:c.1880G=	NP_001336825.1:p.Arg627=
NM_001349898.1:c.1880G=	NP_001336827.1:p.Arg627=
NM_001349899.1:c.1880G=	NP_001336828.1:p.Arg627=
NM_001349900.1:c.1934G=	NP_001336829.1:p.Arg645=
NM_001349901.1:c.1934G=	NP_001336830.1:p.Arg645=
NM_001349902.1:c.1714-4530G=	NP_001336831.1:n.1714-4530G=
NM_001349903.1:c.1714-4530G=	NP_001336832.1:n.1714-4530G=
NM_001349904.1:c.1880G=	NP_001336833.1:p.Arg627=
NM_001349905.1:c.1880G=	NP_001336834.1:p.Arg627=
NR_146311.1:n.2657G=
NR_146312.1:n.2482G=
NR_146313.1:n.2502G=
NR_146314.1:n.2633G=
NR_146315.1:n.2573G=
NR_146316.1:n.2548G=
XM_006724360.3:c.1367G=	XP_006724423.1:p.Arg456=
XM_011530485.2:c.2012G=	XP_011528787.1:p.Arg671=
XM_011530486.2:c.2012G=	XP_011528788.1:p.Arg671=
XM_011530487.2:c.2012G=	XP_011528789.1:p.Arg671=
XM_011530488.2:c.2012G=	XP_011528790.1:p.Arg671=
XM_011530489.2:c.2012G=	XP_011528791.1:p.Arg671=
XM_011530490.3:c.1958G=	XP_011528792.1:p.Arg653=
XM_011530491.3:c.2012G=	XP_011528793.1:p.Arg671=
XM_011530492.2:c.2012G=	XP_011528794.1:p.Arg671=
XM_011530493.3:c.1846-4530G=	XP_011528795.1:n.1846-4530G=
XM_011530494.2:c.1220G=	XP_011528796.1:p.Arg407=
XM_011530495.2:c.1367G=	XP_011528797.1:p.Arg456=
XM_011530496.2:c.1220G=	XP_011528798.1:p.Arg407=
XM_017029045.2:c.1958G=	XP_016884534.1:p.Arg653=
XM_017029046.2:c.1880G=	XP_016884535.1:p.Arg627=
XM_017029047.2:c.1792-4530G=	XP_016884536.1:n.1792-4530G=
XM_017029052.2:c.1472G=	XP_016884541.1:p.Arg491=
XM_017029053.1:c.1457G=	XP_016884542.1:p.Arg486=
XM_017029056.2:c.1085G=	XP_016884545.1:p.Arg362=
XM_017029061.2:c.1085G=	XP_016884550.1:p.Arg362=
XM_017029062.2:c.1085G=	XP_016884551.1:p.Arg362=
XM_017029063.2:c.1085G=	XP_016884552.1:p.Arg362=
XM_017029064.2:c.1085G=	XP_016884553.1:p.Arg362=
XM_024452298.1:c.1253G=	XP_024308066.1:p.Arg418=
XM_024452299.1:c.1085G=	XP_024308067.1:p.Arg362=
XM_024452300.1:c.1085G=	XP_024308068.1:p.Arg362=
XR_001755361.2:n.2588G=
XR_001755364.1:n.2278-4530G=
XR_001755366.2:n.3117G=
XR_002958721.1:n.2500-4530G=
XR_937947.2:n.2666G=
NM_001349898.2:c.1880G=	NP_001336827.1:p.Arg627=
NM_001349899.2:c.1880G=	NP_001336828.1:p.Arg627=
NM_001349900.2:c.1934G=	NP_001336829.1:p.Arg645=
NM_001349903.2:c.1714-4530G=	NP_001336832.1:n.1714-4530G=
NM_001349904.2:c.1880G=	NP_001336833.1:p.Arg627=
NR_073136.2:n.2135G=
NR_146311.2:n.2577G=
NR_146313.2:n.2422G=
NR_146315.2:n.2493G=
NM_022081.6:c.1880G= MANE Select	NP_071364.4:p.Arg627=
NR_146316.2:n.2468G=