Canonical Allele Identifier: CA411023708

Gene: HPS4

Linked Data

• MyVariant Identifiers: chr22:g.26853829C>G (hg19) ; chr22:g.26457863C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457863C>G , CM000684.2:g.26457863C>G	GRCh38
NC_000022.10:g.26853829C>G , CM000684.1:g.26853829C>G	GRCh37
NC_000022.9:g.25183829C>G	NCBI36
NG_009763.2:g.31001G>C , LRG_590:g.31001G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.2005G>C	ENSP00000415081.3:p.Val669Leu
ENST00000473782.2:c.1951G>C	ENSP00000514223.1:p.Val651Leu
ENST00000483631.2:c.1156G>C	ENSP00000514228.1:p.Val386Leu
ENST00000491142.2:c.1951G>C	ENSP00000514221.1:p.Val651Leu
ENST00000699226.1:n.4877G>C
ENST00000699227.1:c.*1295G>C	ENSP00000514220.1:n.*1295G>C
ENST00000699228.1:n.2501G>C
ENST00000699229.1:n.1368G>C
ENST00000699230.1:n.2674G>C
ENST00000699231.1:n.4963G>C
ENST00000699232.1:n.3307G>C
ENST00000699233.1:n.1822G>C
ENST00000699234.1:c.*1295G>C	ENSP00000514222.1:n.*1295G>C
ENST00000699235.1:c.1156G>C	ENSP00000514224.1:p.Val386Leu
ENST00000699236.1:c.*1140G>C	ENSP00000514225.1:n.*1140G>C
ENST00000699237.1:c.*1140G>C	ENSP00000514226.1:n.*1140G>C
ENST00000699238.1:c.*1494G>C	ENSP00000514227.1:n.*1494G>C
ENST00000699239.1:n.4705G>C
ENST00000699240.1:c.*1608G>C	ENSP00000514229.1:n.*1608G>C
ENST00000699241.1:c.*2143G>C	ENSP00000514230.1:n.*2143G>C
ENST00000699242.1:c.1861G>C	ENSP00000514231.1:p.Val621Leu
ENST00000699243.1:c.*1295G>C	ENSP00000514232.1:n.*1295G>C
ENST00000699244.1:c.1804G>C	ENSP00000514233.1:p.Val602Leu
ENST00000699245.1:n.1243G>C
ENST00000699246.1:c.*1322G>C	ENSP00000514234.1:n.*1322G>C
ENST00000699247.1:c.907G>C	ENSP00000514235.1:p.Val303Leu
ENST00000699248.1:n.3784-4459G>C
ENST00000699249.1:c.*1058-4459G>C	ENSP00000514236.1:n.*1058-4459G>C
ENST00000699250.1:c.1714-4459G>C	ENSP00000514237.1:n.1714-4459G>C
ENST00000699251.1:c.1951G>C	ENSP00000514238.1:p.Val651Leu
ENST00000699252.1:n.2501G>C
ENST00000398145.7:c.1951G>C MANE Select	ENSP00000381213.2:p.Val651Leu
ENST00000336873.9:c.1951G>C	ENSP00000338457.5:p.Val651Leu
ENST00000398145.6:c.1951G>C	ENSP00000381213.2:p.Val651Leu
ENST00000402105.7:c.1936G>C	ENSP00000384185.3:p.Val646Leu
ENST00000429411.5:c.*1523G>C	ENSP00000399705.1:n.*1523G>C
ENST00000439453.5:c.*1469G>C	ENSP00000406764.1:n.*1469G>C
ENST00000464362.5:c.*2282G>C	ENSP00000430291.1:n.*2282G>C
ENST00000466781.5:n.4810G>C
ENST00000485842.5:n.642G>C
ENST00000493455.6:n.514G>C
ENST00000496385.5:n.2480-4459G>C
ENST00000519774.5:n.337G>C
NM_022081.5:c.1951G>C , LRG_590t1:c.1951G>C	NP_071364.4:p.Val651Leu
NM_152841.2:c.1936G>C , LRG_590t2:c.1936G>C	NP_690054.1:p.Val646Leu
NR_073135.1:n.2637G>C
NR_073136.1:n.2399G>C
XM_006724353.2:c.2005G>C	XP_006724416.1:p.Val669Leu
XM_006724354.2:c.2005G>C	XP_006724417.1:p.Val669Leu
XM_006724360.2:c.1438G>C	XP_006724423.1:p.Val480Leu
XM_011530485.1:c.2083G>C	XP_011528787.1:p.Val695Leu
XM_011530486.1:c.2083G>C	XP_011528788.1:p.Val695Leu
XM_011530487.1:c.2083G>C	XP_011528789.1:p.Val695Leu
XM_011530488.1:c.2083G>C	XP_011528790.1:p.Val695Leu
XM_011530489.1:c.2083G>C	XP_011528791.1:p.Val695Leu
XM_011530490.1:c.2029G>C	XP_011528792.1:p.Val677Leu
XM_011530491.1:c.2083G>C	XP_011528793.1:p.Val695Leu
XM_011530492.1:c.2083G>C	XP_011528794.1:p.Val695Leu
XM_011530493.1:c.1846-4459G>C	XP_011528795.1:n.1846-4459G>C
XM_011530494.1:c.1291G>C	XP_011528796.1:p.Val431Leu
XM_011530495.1:c.1438G>C	XP_011528797.1:p.Val480Leu
XM_011530496.1:c.1291G>C	XP_011528798.1:p.Val431Leu
XR_937947.1:n.2742G>C
NM_001349896.1:c.1951G>C	NP_001336825.1:p.Val651Leu
NM_001349898.1:c.1951G>C	NP_001336827.1:p.Val651Leu
NM_001349899.1:c.1951G>C	NP_001336828.1:p.Val651Leu
NM_001349900.1:c.2005G>C	NP_001336829.1:p.Val669Leu
NM_001349901.1:c.2005G>C	NP_001336830.1:p.Val669Leu
NM_001349902.1:c.1714-4459G>C	NP_001336831.1:n.1714-4459G>C
NM_001349903.1:c.1714-4459G>C	NP_001336832.1:n.1714-4459G>C
NM_001349904.1:c.1951G>C	NP_001336833.1:p.Val651Leu
NM_001349905.1:c.1951G>C	NP_001336834.1:p.Val651Leu
NR_146311.1:n.2728G>C
NR_146312.1:n.2553G>C
NR_146313.1:n.2573G>C
NR_146314.1:n.2704G>C
NR_146315.1:n.2644G>C
NR_146316.1:n.2619G>C
XM_006724360.3:c.1438G>C	XP_006724423.1:p.Val480Leu
XM_011530485.2:c.2083G>C	XP_011528787.1:p.Val695Leu
XM_011530486.2:c.2083G>C	XP_011528788.1:p.Val695Leu
XM_011530487.2:c.2083G>C	XP_011528789.1:p.Val695Leu
XM_011530488.2:c.2083G>C	XP_011528790.1:p.Val695Leu
XM_011530489.2:c.2083G>C	XP_011528791.1:p.Val695Leu
XM_011530490.3:c.2029G>C	XP_011528792.1:p.Val677Leu
XM_011530491.3:c.2083G>C	XP_011528793.1:p.Val695Leu
XM_011530492.2:c.2083G>C	XP_011528794.1:p.Val695Leu
XM_011530493.3:c.1846-4459G>C	XP_011528795.1:n.1846-4459G>C
XM_011530494.2:c.1291G>C	XP_011528796.1:p.Val431Leu
XM_011530495.2:c.1438G>C	XP_011528797.1:p.Val480Leu
XM_011530496.2:c.1291G>C	XP_011528798.1:p.Val431Leu
XM_017029045.2:c.2029G>C	XP_016884534.1:p.Val677Leu
XM_017029046.2:c.1951G>C	XP_016884535.1:p.Val651Leu
XM_017029047.2:c.1792-4459G>C	XP_016884536.1:n.1792-4459G>C
XM_017029052.2:c.1543G>C	XP_016884541.1:p.Val515Leu
XM_017029053.1:c.1528G>C	XP_016884542.1:p.Val510Leu
XM_017029056.2:c.1156G>C	XP_016884545.1:p.Val386Leu
XM_017029061.2:c.1156G>C	XP_016884550.1:p.Val386Leu
XM_017029062.2:c.1156G>C	XP_016884551.1:p.Val386Leu
XM_017029063.2:c.1156G>C	XP_016884552.1:p.Val386Leu
XM_017029064.2:c.1156G>C	XP_016884553.1:p.Val386Leu
XM_024452298.1:c.1324G>C	XP_024308066.1:p.Val442Leu
XM_024452299.1:c.1156G>C	XP_024308067.1:p.Val386Leu
XM_024452300.1:c.1156G>C	XP_024308068.1:p.Val386Leu
XR_001755361.2:n.2659G>C
XR_001755364.1:n.2278-4459G>C
XR_001755366.2:n.3188G>C
XR_002958721.1:n.2500-4459G>C
XR_937947.2:n.2737G>C
NM_001349898.2:c.1951G>C	NP_001336827.1:p.Val651Leu
NM_001349899.2:c.1951G>C	NP_001336828.1:p.Val651Leu
NM_001349900.2:c.2005G>C	NP_001336829.1:p.Val669Leu
NM_001349903.2:c.1714-4459G>C	NP_001336832.1:n.1714-4459G>C
NM_001349904.2:c.1951G>C	NP_001336833.1:p.Val651Leu
NR_073136.2:n.2206G>C
NR_146311.2:n.2648G>C
NR_146313.2:n.2493G>C
NR_146315.2:n.2564G>C
NM_022081.6:c.1951G>C MANE Select	NP_071364.4:p.Val651Leu
NR_146316.2:n.2539G>C