Canonical Allele Identifier: CA2399204712

Gene: HPS4

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26464163G= , CM000684.2:g.26464163G=	GRCh38
NC_000022.10:g.26860129G= , CM000684.1:g.26860129G=	GRCh37
NC_000022.9:g.25190129G=	NCBI36
NG_009763.2:g.24701C= , LRG_590:g.24701C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1521C=	ENSP00000415081.3:p.Gly507=
ENST00000473782.2:c.1467C=	ENSP00000514223.1:p.Gly489=
ENST00000483631.2:c.672C=	ENSP00000514228.1:p.Gly224=
ENST00000491142.2:c.1467C=	ENSP00000514221.1:p.Gly489=
ENST00000699226.1:n.4393C=
ENST00000699227.1:c.*811C=	ENSP00000514220.1:n.*811C=
ENST00000699228.1:n.2017C=
ENST00000699229.1:n.884C=
ENST00000699230.1:n.2190C=
ENST00000699231.1:n.4479C=
ENST00000699232.1:n.2823C=
ENST00000699233.1:n.1338C=
ENST00000699234.1:c.*811C=	ENSP00000514222.1:n.*811C=
ENST00000699235.1:c.672C=	ENSP00000514224.1:p.Gly224=
ENST00000699236.1:c.*656C=	ENSP00000514225.1:n.*656C=
ENST00000699237.1:c.*656C=	ENSP00000514226.1:n.*656C=
ENST00000699238.1:c.*1010C=	ENSP00000514227.1:n.*1010C=
ENST00000699239.1:n.4221C=
ENST00000699240.1:c.*1124C=	ENSP00000514229.1:n.*1124C=
ENST00000699241.1:c.*1659C=	ENSP00000514230.1:n.*1659C=
ENST00000699242.1:c.1377C=	ENSP00000514231.1:p.Gly459=
ENST00000699243.1:c.*811C=	ENSP00000514232.1:n.*811C=
ENST00000699244.1:c.1320C=	ENSP00000514233.1:p.Gly440=
ENST00000699246.1:c.*838C=	ENSP00000514234.1:n.*838C=
ENST00000699247.1:c.669+4388C=	ENSP00000514235.1:n.669+4388C=
ENST00000699248.1:n.3537C=
ENST00000699249.1:c.*811C=	ENSP00000514236.1:n.*811C=
ENST00000699250.1:c.1467C=	ENSP00000514237.1:p.Gly489=
ENST00000699251.1:c.1467C=	ENSP00000514238.1:p.Gly489=
ENST00000699252.1:n.2017C=
ENST00000398145.7:c.1467C= MANE Select	ENSP00000381213.2:p.Gly489=
ENST00000336873.9:c.1467C=	ENSP00000338457.5:p.Gly489=
ENST00000398145.6:c.1467C=	ENSP00000381213.2:p.Gly489=
ENST00000402105.7:c.1452C=	ENSP00000384185.3:p.Gly484=
ENST00000429411.5:c.*1039C=	ENSP00000399705.1:n.*1039C=
ENST00000439453.5:c.*985C=	ENSP00000406764.1:n.*985C=
ENST00000464362.5:c.*1798C=	ENSP00000430291.1:n.*1798C=
ENST00000466781.5:n.4326C=
ENST00000485842.5:n.404+4388C=
ENST00000493455.6:n.30C=
ENST00000496385.5:n.2233C=
NM_022081.5:c.1467C= , LRG_590t1:c.1467C=	NP_071364.4:p.Gly489=
NM_152841.2:c.1452C= , LRG_590t2:c.1452C=	NP_690054.1:p.Gly484=
NR_073135.1:n.2153C=
NR_073136.1:n.1915C=
XM_006724353.2:c.1521C=	XP_006724416.1:p.Gly507=
XM_006724354.2:c.1521C=	XP_006724417.1:p.Gly507=
XM_006724360.2:c.954C=	XP_006724423.1:p.Gly318=
XM_011530485.1:c.1599C=	XP_011528787.1:p.Gly533=
XM_011530486.1:c.1599C=	XP_011528788.1:p.Gly533=
XM_011530487.1:c.1599C=	XP_011528789.1:p.Gly533=
XM_011530488.1:c.1599C=	XP_011528790.1:p.Gly533=
XM_011530489.1:c.1599C=	XP_011528791.1:p.Gly533=
XM_011530490.1:c.1545C=	XP_011528792.1:p.Gly515=
XM_011530491.1:c.1599C=	XP_011528793.1:p.Gly533=
XM_011530492.1:c.1599C=	XP_011528794.1:p.Gly533=
XM_011530493.1:c.1599C=	XP_011528795.1:p.Gly533=
XM_011530494.1:c.807C=	XP_011528796.1:p.Gly269=
XM_011530495.1:c.954C=	XP_011528797.1:p.Gly318=
XM_011530496.1:c.807C=	XP_011528798.1:p.Gly269=
XR_937947.1:n.2258C=
NM_001349896.1:c.1467C=	NP_001336825.1:p.Gly489=
NM_001349898.1:c.1467C=	NP_001336827.1:p.Gly489=
NM_001349899.1:c.1467C=	NP_001336828.1:p.Gly489=
NM_001349900.1:c.1521C=	NP_001336829.1:p.Gly507=
NM_001349901.1:c.1521C=	NP_001336830.1:p.Gly507=
NM_001349902.1:c.1467C=	NP_001336831.1:p.Gly489=
NM_001349903.1:c.1467C=	NP_001336832.1:p.Gly489=
NM_001349904.1:c.1467C=	NP_001336833.1:p.Gly489=
NM_001349905.1:c.1467C=	NP_001336834.1:p.Gly489=
NR_146311.1:n.2244C=
NR_146312.1:n.2069C=
NR_146313.1:n.2089C=
NR_146314.1:n.2220C=
NR_146315.1:n.2160C=
NR_146316.1:n.2135C=
XM_006724360.3:c.954C=	XP_006724423.1:p.Gly318=
XM_011530485.2:c.1599C=	XP_011528787.1:p.Gly533=
XM_011530486.2:c.1599C=	XP_011528788.1:p.Gly533=
XM_011530487.2:c.1599C=	XP_011528789.1:p.Gly533=
XM_011530488.2:c.1599C=	XP_011528790.1:p.Gly533=
XM_011530489.2:c.1599C=	XP_011528791.1:p.Gly533=
XM_011530490.3:c.1545C=	XP_011528792.1:p.Gly515=
XM_011530491.3:c.1599C=	XP_011528793.1:p.Gly533=
XM_011530492.2:c.1599C=	XP_011528794.1:p.Gly533=
XM_011530493.3:c.1599C=	XP_011528795.1:p.Gly533=
XM_011530494.2:c.807C=	XP_011528796.1:p.Gly269=
XM_011530495.2:c.954C=	XP_011528797.1:p.Gly318=
XM_011530496.2:c.807C=	XP_011528798.1:p.Gly269=
XM_017029045.2:c.1545C=	XP_016884534.1:p.Gly515=
XM_017029046.2:c.1467C=	XP_016884535.1:p.Gly489=
XM_017029047.2:c.1545C=	XP_016884536.1:p.Gly515=
XM_017029052.2:c.1059C=	XP_016884541.1:p.Gly353=
XM_017029053.1:c.1044C=	XP_016884542.1:p.Gly348=
XM_017029056.2:c.672C=	XP_016884545.1:p.Gly224=
XM_017029061.2:c.672C=	XP_016884550.1:p.Gly224=
XM_017029062.2:c.672C=	XP_016884551.1:p.Gly224=
XM_017029063.2:c.672C=	XP_016884552.1:p.Gly224=
XM_017029064.2:c.672C=	XP_016884553.1:p.Gly224=
XM_024452298.1:c.840C=	XP_024308066.1:p.Gly280=
XM_024452299.1:c.672C=	XP_024308067.1:p.Gly224=
XM_024452300.1:c.672C=	XP_024308068.1:p.Gly224=
XR_001755361.2:n.2175C=
XR_001755364.1:n.2031C=
XR_001755366.2:n.2704C=
XR_002958721.1:n.2253C=
XR_937947.2:n.2253C=
NM_001349898.2:c.1467C=	NP_001336827.1:p.Gly489=
NM_001349899.2:c.1467C=	NP_001336828.1:p.Gly489=
NM_001349900.2:c.1521C=	NP_001336829.1:p.Gly507=
NM_001349903.2:c.1467C=	NP_001336832.1:p.Gly489=
NM_001349904.2:c.1467C=	NP_001336833.1:p.Gly489=
NR_073136.2:n.1722C=
NR_146311.2:n.2164C=
NR_146313.2:n.2009C=
NR_146315.2:n.2080C=
NM_022081.6:c.1467C= MANE Select	NP_071364.4:p.Gly489=
NR_146316.2:n.2055C=