Canonical Allele Identifier: CA411026788

Gene: HPS4

Linked Data

• ClinVar Variation Id: 2532470
• ClinVar RCV Id: RCV003250218
• MyVariant Identifiers: chr22:g.26860121T>G (hg19) ; chr22:g.26464155T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26464155T>G , CM000684.2:g.26464155T>G	GRCh38
NC_000022.10:g.26860121T>G , CM000684.1:g.26860121T>G	GRCh37
NC_000022.9:g.25190121T>G	NCBI36
NG_009763.2:g.24709A>C , LRG_590:g.24709A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1529A>C	ENSP00000415081.3:p.Glu510Ala
ENST00000473782.2:c.1475A>C	ENSP00000514223.1:p.Glu492Ala
ENST00000483631.2:c.680A>C	ENSP00000514228.1:p.Glu227Ala
ENST00000491142.2:c.1475A>C	ENSP00000514221.1:p.Glu492Ala
ENST00000699226.1:n.4401A>C
ENST00000699227.1:c.*819A>C	ENSP00000514220.1:n.*819A>C
ENST00000699228.1:n.2025A>C
ENST00000699229.1:n.892A>C
ENST00000699230.1:n.2198A>C
ENST00000699231.1:n.4487A>C
ENST00000699232.1:n.2831A>C
ENST00000699233.1:n.1346A>C
ENST00000699234.1:c.*819A>C	ENSP00000514222.1:n.*819A>C
ENST00000699235.1:c.680A>C	ENSP00000514224.1:p.Glu227Ala
ENST00000699236.1:c.*664A>C	ENSP00000514225.1:n.*664A>C
ENST00000699237.1:c.*664A>C	ENSP00000514226.1:n.*664A>C
ENST00000699238.1:c.*1018A>C	ENSP00000514227.1:n.*1018A>C
ENST00000699239.1:n.4229A>C
ENST00000699240.1:c.*1132A>C	ENSP00000514229.1:n.*1132A>C
ENST00000699241.1:c.*1667A>C	ENSP00000514230.1:n.*1667A>C
ENST00000699242.1:c.1385A>C	ENSP00000514231.1:p.Glu462Ala
ENST00000699243.1:c.*819A>C	ENSP00000514232.1:n.*819A>C
ENST00000699244.1:c.1328A>C	ENSP00000514233.1:p.Glu443Ala
ENST00000699246.1:c.*846A>C	ENSP00000514234.1:n.*846A>C
ENST00000699247.1:c.669+4396A>C	ENSP00000514235.1:n.669+4396A>C
ENST00000699248.1:n.3545A>C
ENST00000699249.1:c.*819A>C	ENSP00000514236.1:n.*819A>C
ENST00000699250.1:c.1475A>C	ENSP00000514237.1:p.Glu492Ala
ENST00000699251.1:c.1475A>C	ENSP00000514238.1:p.Glu492Ala
ENST00000699252.1:n.2025A>C
ENST00000398145.7:c.1475A>C MANE Select	ENSP00000381213.2:p.Glu492Ala
ENST00000336873.9:c.1475A>C	ENSP00000338457.5:p.Glu492Ala
ENST00000398145.6:c.1475A>C	ENSP00000381213.2:p.Glu492Ala
ENST00000402105.7:c.1460A>C	ENSP00000384185.3:p.Glu487Ala
ENST00000429411.5:c.*1047A>C	ENSP00000399705.1:n.*1047A>C
ENST00000439453.5:c.*993A>C	ENSP00000406764.1:n.*993A>C
ENST00000464362.5:c.*1806A>C	ENSP00000430291.1:n.*1806A>C
ENST00000466781.5:n.4334A>C
ENST00000485842.5:n.404+4396A>C
ENST00000493455.6:n.38A>C
ENST00000496385.5:n.2241A>C
NM_022081.5:c.1475A>C , LRG_590t1:c.1475A>C	NP_071364.4:p.Glu492Ala
NM_152841.2:c.1460A>C , LRG_590t2:c.1460A>C	NP_690054.1:p.Glu487Ala
NR_073135.1:n.2161A>C
NR_073136.1:n.1923A>C
XM_006724353.2:c.1529A>C	XP_006724416.1:p.Glu510Ala
XM_006724354.2:c.1529A>C	XP_006724417.1:p.Glu510Ala
XM_006724360.2:c.962A>C	XP_006724423.1:p.Glu321Ala
XM_011530485.1:c.1607A>C	XP_011528787.1:p.Glu536Ala
XM_011530486.1:c.1607A>C	XP_011528788.1:p.Glu536Ala
XM_011530487.1:c.1607A>C	XP_011528789.1:p.Glu536Ala
XM_011530488.1:c.1607A>C	XP_011528790.1:p.Glu536Ala
XM_011530489.1:c.1607A>C	XP_011528791.1:p.Glu536Ala
XM_011530490.1:c.1553A>C	XP_011528792.1:p.Glu518Ala
XM_011530491.1:c.1607A>C	XP_011528793.1:p.Glu536Ala
XM_011530492.1:c.1607A>C	XP_011528794.1:p.Glu536Ala
XM_011530493.1:c.1607A>C	XP_011528795.1:p.Glu536Ala
XM_011530494.1:c.815A>C	XP_011528796.1:p.Glu272Ala
XM_011530495.1:c.962A>C	XP_011528797.1:p.Glu321Ala
XM_011530496.1:c.815A>C	XP_011528798.1:p.Glu272Ala
XR_937947.1:n.2266A>C
NM_001349896.1:c.1475A>C	NP_001336825.1:p.Glu492Ala
NM_001349898.1:c.1475A>C	NP_001336827.1:p.Glu492Ala
NM_001349899.1:c.1475A>C	NP_001336828.1:p.Glu492Ala
NM_001349900.1:c.1529A>C	NP_001336829.1:p.Glu510Ala
NM_001349901.1:c.1529A>C	NP_001336830.1:p.Glu510Ala
NM_001349902.1:c.1475A>C	NP_001336831.1:p.Glu492Ala
NM_001349903.1:c.1475A>C	NP_001336832.1:p.Glu492Ala
NM_001349904.1:c.1475A>C	NP_001336833.1:p.Glu492Ala
NM_001349905.1:c.1475A>C	NP_001336834.1:p.Glu492Ala
NR_146311.1:n.2252A>C
NR_146312.1:n.2077A>C
NR_146313.1:n.2097A>C
NR_146314.1:n.2228A>C
NR_146315.1:n.2168A>C
NR_146316.1:n.2143A>C
XM_006724360.3:c.962A>C	XP_006724423.1:p.Glu321Ala
XM_011530485.2:c.1607A>C	XP_011528787.1:p.Glu536Ala
XM_011530486.2:c.1607A>C	XP_011528788.1:p.Glu536Ala
XM_011530487.2:c.1607A>C	XP_011528789.1:p.Glu536Ala
XM_011530488.2:c.1607A>C	XP_011528790.1:p.Glu536Ala
XM_011530489.2:c.1607A>C	XP_011528791.1:p.Glu536Ala
XM_011530490.3:c.1553A>C	XP_011528792.1:p.Glu518Ala
XM_011530491.3:c.1607A>C	XP_011528793.1:p.Glu536Ala
XM_011530492.2:c.1607A>C	XP_011528794.1:p.Glu536Ala
XM_011530493.3:c.1607A>C	XP_011528795.1:p.Glu536Ala
XM_011530494.2:c.815A>C	XP_011528796.1:p.Glu272Ala
XM_011530495.2:c.962A>C	XP_011528797.1:p.Glu321Ala
XM_011530496.2:c.815A>C	XP_011528798.1:p.Glu272Ala
XM_017029045.2:c.1553A>C	XP_016884534.1:p.Glu518Ala
XM_017029046.2:c.1475A>C	XP_016884535.1:p.Glu492Ala
XM_017029047.2:c.1553A>C	XP_016884536.1:p.Glu518Ala
XM_017029052.2:c.1067A>C	XP_016884541.1:p.Glu356Ala
XM_017029053.1:c.1052A>C	XP_016884542.1:p.Glu351Ala
XM_017029056.2:c.680A>C	XP_016884545.1:p.Glu227Ala
XM_017029061.2:c.680A>C	XP_016884550.1:p.Glu227Ala
XM_017029062.2:c.680A>C	XP_016884551.1:p.Glu227Ala
XM_017029063.2:c.680A>C	XP_016884552.1:p.Glu227Ala
XM_017029064.2:c.680A>C	XP_016884553.1:p.Glu227Ala
XM_024452298.1:c.848A>C	XP_024308066.1:p.Glu283Ala
XM_024452299.1:c.680A>C	XP_024308067.1:p.Glu227Ala
XM_024452300.1:c.680A>C	XP_024308068.1:p.Glu227Ala
XR_001755361.2:n.2183A>C
XR_001755364.1:n.2039A>C
XR_001755366.2:n.2712A>C
XR_002958721.1:n.2261A>C
XR_937947.2:n.2261A>C
NM_001349898.2:c.1475A>C	NP_001336827.1:p.Glu492Ala
NM_001349899.2:c.1475A>C	NP_001336828.1:p.Glu492Ala
NM_001349900.2:c.1529A>C	NP_001336829.1:p.Glu510Ala
NM_001349903.2:c.1475A>C	NP_001336832.1:p.Glu492Ala
NM_001349904.2:c.1475A>C	NP_001336833.1:p.Glu492Ala
NR_073136.2:n.1730A>C
NR_146311.2:n.2172A>C
NR_146313.2:n.2017A>C
NR_146315.2:n.2088A>C
NM_022081.6:c.1475A>C MANE Select	NP_071364.4:p.Glu492Ala
NR_146316.2:n.2063A>C