Canonical Allele Identifier: CA411027058

Gene: HPS4

Linked Data

• dbSNP Id: rs549290787
• gnomAD v2: 22-26860185-A-T
• MyVariant Identifiers: chr22:g.26860185A>T (hg19) ; chr22:g.26464219A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26464219A>T , CM000684.2:g.26464219A>T	GRCh38
NC_000022.10:g.26860185A>T , CM000684.1:g.26860185A>T	GRCh37
NC_000022.9:g.25190185A>T	NCBI36
NG_009763.2:g.24645T>A , LRG_590:g.24645T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1465T>A	ENSP00000415081.3:p.Leu489Met
ENST00000473782.2:c.1411T>A	ENSP00000514223.1:p.Leu471Met
ENST00000483631.2:c.616T>A	ENSP00000514228.1:p.Leu206Met
ENST00000491142.2:c.1411T>A	ENSP00000514221.1:p.Leu471Met
ENST00000699226.1:n.4337T>A
ENST00000699227.1:c.*755T>A	ENSP00000514220.1:n.*755T>A
ENST00000699228.1:n.1961T>A
ENST00000699229.1:n.828T>A
ENST00000699230.1:n.2134T>A
ENST00000699231.1:n.4423T>A
ENST00000699232.1:n.2767T>A
ENST00000699233.1:n.1282T>A
ENST00000699234.1:c.*755T>A	ENSP00000514222.1:n.*755T>A
ENST00000699235.1:c.616T>A	ENSP00000514224.1:p.Leu206Met
ENST00000699236.1:c.*600T>A	ENSP00000514225.1:n.*600T>A
ENST00000699237.1:c.*600T>A	ENSP00000514226.1:n.*600T>A
ENST00000699238.1:c.*954T>A	ENSP00000514227.1:n.*954T>A
ENST00000699239.1:n.4165T>A
ENST00000699240.1:c.*1068T>A	ENSP00000514229.1:n.*1068T>A
ENST00000699241.1:c.*1603T>A	ENSP00000514230.1:n.*1603T>A
ENST00000699242.1:c.1321T>A	ENSP00000514231.1:p.Leu441Met
ENST00000699243.1:c.*755T>A	ENSP00000514232.1:n.*755T>A
ENST00000699244.1:c.1264T>A	ENSP00000514233.1:p.Leu422Met
ENST00000699246.1:c.*782T>A	ENSP00000514234.1:n.*782T>A
ENST00000699247.1:c.669+4332T>A	ENSP00000514235.1:n.669+4332T>A
ENST00000699248.1:n.3481T>A
ENST00000699249.1:c.*755T>A	ENSP00000514236.1:n.*755T>A
ENST00000699250.1:c.1411T>A	ENSP00000514237.1:p.Leu471Met
ENST00000699251.1:c.1411T>A	ENSP00000514238.1:p.Leu471Met
ENST00000699252.1:n.1961T>A
ENST00000398145.7:c.1411T>A MANE Select	ENSP00000381213.2:p.Leu471Met
ENST00000336873.9:c.1411T>A	ENSP00000338457.5:p.Leu471Met
ENST00000398145.6:c.1411T>A	ENSP00000381213.2:p.Leu471Met
ENST00000402105.7:c.1396T>A	ENSP00000384185.3:p.Leu466Met
ENST00000429411.5:c.*983T>A	ENSP00000399705.1:n.*983T>A
ENST00000439453.5:c.*929T>A	ENSP00000406764.1:n.*929T>A
ENST00000464362.5:c.*1742T>A	ENSP00000430291.1:n.*1742T>A
ENST00000466781.5:n.4270T>A
ENST00000485842.5:n.404+4332T>A
ENST00000496385.5:n.2177T>A
NM_022081.5:c.1411T>A , LRG_590t1:c.1411T>A	NP_071364.4:p.Leu471Met
NM_152841.2:c.1396T>A , LRG_590t2:c.1396T>A	NP_690054.1:p.Leu466Met
NR_073135.1:n.2097T>A
NR_073136.1:n.1859T>A
XM_006724353.2:c.1465T>A	XP_006724416.1:p.Leu489Met
XM_006724354.2:c.1465T>A	XP_006724417.1:p.Leu489Met
XM_006724360.2:c.898T>A	XP_006724423.1:p.Leu300Met
XM_011530485.1:c.1543T>A	XP_011528787.1:p.Leu515Met
XM_011530486.1:c.1543T>A	XP_011528788.1:p.Leu515Met
XM_011530487.1:c.1543T>A	XP_011528789.1:p.Leu515Met
XM_011530488.1:c.1543T>A	XP_011528790.1:p.Leu515Met
XM_011530489.1:c.1543T>A	XP_011528791.1:p.Leu515Met
XM_011530490.1:c.1489T>A	XP_011528792.1:p.Leu497Met
XM_011530491.1:c.1543T>A	XP_011528793.1:p.Leu515Met
XM_011530492.1:c.1543T>A	XP_011528794.1:p.Leu515Met
XM_011530493.1:c.1543T>A	XP_011528795.1:p.Leu515Met
XM_011530494.1:c.751T>A	XP_011528796.1:p.Leu251Met
XM_011530495.1:c.898T>A	XP_011528797.1:p.Leu300Met
XM_011530496.1:c.751T>A	XP_011528798.1:p.Leu251Met
XR_937947.1:n.2202T>A
NM_001349896.1:c.1411T>A	NP_001336825.1:p.Leu471Met
NM_001349898.1:c.1411T>A	NP_001336827.1:p.Leu471Met
NM_001349899.1:c.1411T>A	NP_001336828.1:p.Leu471Met
NM_001349900.1:c.1465T>A	NP_001336829.1:p.Leu489Met
NM_001349901.1:c.1465T>A	NP_001336830.1:p.Leu489Met
NM_001349902.1:c.1411T>A	NP_001336831.1:p.Leu471Met
NM_001349903.1:c.1411T>A	NP_001336832.1:p.Leu471Met
NM_001349904.1:c.1411T>A	NP_001336833.1:p.Leu471Met
NM_001349905.1:c.1411T>A	NP_001336834.1:p.Leu471Met
NR_146311.1:n.2188T>A
NR_146312.1:n.2013T>A
NR_146313.1:n.2033T>A
NR_146314.1:n.2164T>A
NR_146315.1:n.2104T>A
NR_146316.1:n.2079T>A
XM_006724360.3:c.898T>A	XP_006724423.1:p.Leu300Met
XM_011530485.2:c.1543T>A	XP_011528787.1:p.Leu515Met
XM_011530486.2:c.1543T>A	XP_011528788.1:p.Leu515Met
XM_011530487.2:c.1543T>A	XP_011528789.1:p.Leu515Met
XM_011530488.2:c.1543T>A	XP_011528790.1:p.Leu515Met
XM_011530489.2:c.1543T>A	XP_011528791.1:p.Leu515Met
XM_011530490.3:c.1489T>A	XP_011528792.1:p.Leu497Met
XM_011530491.3:c.1543T>A	XP_011528793.1:p.Leu515Met
XM_011530492.2:c.1543T>A	XP_011528794.1:p.Leu515Met
XM_011530493.3:c.1543T>A	XP_011528795.1:p.Leu515Met
XM_011530494.2:c.751T>A	XP_011528796.1:p.Leu251Met
XM_011530495.2:c.898T>A	XP_011528797.1:p.Leu300Met
XM_011530496.2:c.751T>A	XP_011528798.1:p.Leu251Met
XM_017029045.2:c.1489T>A	XP_016884534.1:p.Leu497Met
XM_017029046.2:c.1411T>A	XP_016884535.1:p.Leu471Met
XM_017029047.2:c.1489T>A	XP_016884536.1:p.Leu497Met
XM_017029052.2:c.1003T>A	XP_016884541.1:p.Leu335Met
XM_017029053.1:c.988T>A	XP_016884542.1:p.Leu330Met
XM_017029056.2:c.616T>A	XP_016884545.1:p.Leu206Met
XM_017029061.2:c.616T>A	XP_016884550.1:p.Leu206Met
XM_017029062.2:c.616T>A	XP_016884551.1:p.Leu206Met
XM_017029063.2:c.616T>A	XP_016884552.1:p.Leu206Met
XM_017029064.2:c.616T>A	XP_016884553.1:p.Leu206Met
XM_024452298.1:c.784T>A	XP_024308066.1:p.Leu262Met
XM_024452299.1:c.616T>A	XP_024308067.1:p.Leu206Met
XM_024452300.1:c.616T>A	XP_024308068.1:p.Leu206Met
XR_001755361.2:n.2119T>A
XR_001755364.1:n.1975T>A
XR_001755366.2:n.2648T>A
XR_002958721.1:n.2197T>A
XR_937947.2:n.2197T>A
NM_001349898.2:c.1411T>A	NP_001336827.1:p.Leu471Met
NM_001349899.2:c.1411T>A	NP_001336828.1:p.Leu471Met
NM_001349900.2:c.1465T>A	NP_001336829.1:p.Leu489Met
NM_001349903.2:c.1411T>A	NP_001336832.1:p.Leu471Met
NM_001349904.2:c.1411T>A	NP_001336833.1:p.Leu471Met
NR_073136.2:n.1666T>A
NR_146311.2:n.2108T>A
NR_146313.2:n.1953T>A
NR_146315.2:n.2024T>A
NM_022081.6:c.1411T>A MANE Select	NP_071364.4:p.Leu471Met
NR_146316.2:n.1999T>A