Canonical Allele Identifier: CA411026577

Gene: HPS4

Linked Data

• MyVariant Identifiers: chr22:g.26860079A>T (hg19) ; chr22:g.26464113A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26464113A>T , CM000684.2:g.26464113A>T	GRCh38
NC_000022.10:g.26860079A>T , CM000684.1:g.26860079A>T	GRCh37
NC_000022.9:g.25190079A>T	NCBI36
NG_009763.2:g.24751T>A , LRG_590:g.24751T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1571T>A	ENSP00000415081.3:p.Leu524Gln
ENST00000473782.2:c.1517T>A	ENSP00000514223.1:p.Leu506Gln
ENST00000483631.2:c.722T>A	ENSP00000514228.1:p.Leu241Gln
ENST00000491142.2:c.1517T>A	ENSP00000514221.1:p.Leu506Gln
ENST00000699226.1:n.4443T>A
ENST00000699227.1:c.*861T>A	ENSP00000514220.1:n.*861T>A
ENST00000699228.1:n.2067T>A
ENST00000699229.1:n.934T>A
ENST00000699230.1:n.2240T>A
ENST00000699231.1:n.4529T>A
ENST00000699232.1:n.2873T>A
ENST00000699233.1:n.1388T>A
ENST00000699234.1:c.*861T>A	ENSP00000514222.1:n.*861T>A
ENST00000699235.1:c.722T>A	ENSP00000514224.1:p.Leu241Gln
ENST00000699236.1:c.*706T>A	ENSP00000514225.1:n.*706T>A
ENST00000699237.1:c.*706T>A	ENSP00000514226.1:n.*706T>A
ENST00000699238.1:c.*1060T>A	ENSP00000514227.1:n.*1060T>A
ENST00000699239.1:n.4271T>A
ENST00000699240.1:c.*1174T>A	ENSP00000514229.1:n.*1174T>A
ENST00000699241.1:c.*1709T>A	ENSP00000514230.1:n.*1709T>A
ENST00000699242.1:c.1427T>A	ENSP00000514231.1:p.Leu476Gln
ENST00000699243.1:c.*861T>A	ENSP00000514232.1:n.*861T>A
ENST00000699244.1:c.1370T>A	ENSP00000514233.1:p.Leu457Gln
ENST00000699246.1:c.*888T>A	ENSP00000514234.1:n.*888T>A
ENST00000699247.1:c.669+4438T>A	ENSP00000514235.1:n.669+4438T>A
ENST00000699248.1:n.3587T>A
ENST00000699249.1:c.*861T>A	ENSP00000514236.1:n.*861T>A
ENST00000699250.1:c.1517T>A	ENSP00000514237.1:p.Leu506Gln
ENST00000699251.1:c.1517T>A	ENSP00000514238.1:p.Leu506Gln
ENST00000699252.1:n.2067T>A
ENST00000398145.7:c.1517T>A MANE Select	ENSP00000381213.2:p.Leu506Gln
ENST00000336873.9:c.1517T>A	ENSP00000338457.5:p.Leu506Gln
ENST00000398145.6:c.1517T>A	ENSP00000381213.2:p.Leu506Gln
ENST00000402105.7:c.1502T>A	ENSP00000384185.3:p.Leu501Gln
ENST00000429411.5:c.*1089T>A	ENSP00000399705.1:n.*1089T>A
ENST00000439453.5:c.*1035T>A	ENSP00000406764.1:n.*1035T>A
ENST00000464362.5:c.*1848T>A	ENSP00000430291.1:n.*1848T>A
ENST00000466781.5:n.4376T>A
ENST00000485842.5:n.404+4438T>A
ENST00000493455.6:n.80T>A
ENST00000496385.5:n.2283T>A
NM_022081.5:c.1517T>A , LRG_590t1:c.1517T>A	NP_071364.4:p.Leu506Gln
NM_152841.2:c.1502T>A , LRG_590t2:c.1502T>A	NP_690054.1:p.Leu501Gln
NR_073135.1:n.2203T>A
NR_073136.1:n.1965T>A
XM_006724353.2:c.1571T>A	XP_006724416.1:p.Leu524Gln
XM_006724354.2:c.1571T>A	XP_006724417.1:p.Leu524Gln
XM_006724360.2:c.1004T>A	XP_006724423.1:p.Leu335Gln
XM_011530485.1:c.1649T>A	XP_011528787.1:p.Leu550Gln
XM_011530486.1:c.1649T>A	XP_011528788.1:p.Leu550Gln
XM_011530487.1:c.1649T>A	XP_011528789.1:p.Leu550Gln
XM_011530488.1:c.1649T>A	XP_011528790.1:p.Leu550Gln
XM_011530489.1:c.1649T>A	XP_011528791.1:p.Leu550Gln
XM_011530490.1:c.1595T>A	XP_011528792.1:p.Leu532Gln
XM_011530491.1:c.1649T>A	XP_011528793.1:p.Leu550Gln
XM_011530492.1:c.1649T>A	XP_011528794.1:p.Leu550Gln
XM_011530493.1:c.1649T>A	XP_011528795.1:p.Leu550Gln
XM_011530494.1:c.857T>A	XP_011528796.1:p.Leu286Gln
XM_011530495.1:c.1004T>A	XP_011528797.1:p.Leu335Gln
XM_011530496.1:c.857T>A	XP_011528798.1:p.Leu286Gln
XR_937947.1:n.2308T>A
NM_001349896.1:c.1517T>A	NP_001336825.1:p.Leu506Gln
NM_001349898.1:c.1517T>A	NP_001336827.1:p.Leu506Gln
NM_001349899.1:c.1517T>A	NP_001336828.1:p.Leu506Gln
NM_001349900.1:c.1571T>A	NP_001336829.1:p.Leu524Gln
NM_001349901.1:c.1571T>A	NP_001336830.1:p.Leu524Gln
NM_001349902.1:c.1517T>A	NP_001336831.1:p.Leu506Gln
NM_001349903.1:c.1517T>A	NP_001336832.1:p.Leu506Gln
NM_001349904.1:c.1517T>A	NP_001336833.1:p.Leu506Gln
NM_001349905.1:c.1517T>A	NP_001336834.1:p.Leu506Gln
NR_146311.1:n.2294T>A
NR_146312.1:n.2119T>A
NR_146313.1:n.2139T>A
NR_146314.1:n.2270T>A
NR_146315.1:n.2210T>A
NR_146316.1:n.2185T>A
XM_006724360.3:c.1004T>A	XP_006724423.1:p.Leu335Gln
XM_011530485.2:c.1649T>A	XP_011528787.1:p.Leu550Gln
XM_011530486.2:c.1649T>A	XP_011528788.1:p.Leu550Gln
XM_011530487.2:c.1649T>A	XP_011528789.1:p.Leu550Gln
XM_011530488.2:c.1649T>A	XP_011528790.1:p.Leu550Gln
XM_011530489.2:c.1649T>A	XP_011528791.1:p.Leu550Gln
XM_011530490.3:c.1595T>A	XP_011528792.1:p.Leu532Gln
XM_011530491.3:c.1649T>A	XP_011528793.1:p.Leu550Gln
XM_011530492.2:c.1649T>A	XP_011528794.1:p.Leu550Gln
XM_011530493.3:c.1649T>A	XP_011528795.1:p.Leu550Gln
XM_011530494.2:c.857T>A	XP_011528796.1:p.Leu286Gln
XM_011530495.2:c.1004T>A	XP_011528797.1:p.Leu335Gln
XM_011530496.2:c.857T>A	XP_011528798.1:p.Leu286Gln
XM_017029045.2:c.1595T>A	XP_016884534.1:p.Leu532Gln
XM_017029046.2:c.1517T>A	XP_016884535.1:p.Leu506Gln
XM_017029047.2:c.1595T>A	XP_016884536.1:p.Leu532Gln
XM_017029052.2:c.1109T>A	XP_016884541.1:p.Leu370Gln
XM_017029053.1:c.1094T>A	XP_016884542.1:p.Leu365Gln
XM_017029056.2:c.722T>A	XP_016884545.1:p.Leu241Gln
XM_017029061.2:c.722T>A	XP_016884550.1:p.Leu241Gln
XM_017029062.2:c.722T>A	XP_016884551.1:p.Leu241Gln
XM_017029063.2:c.722T>A	XP_016884552.1:p.Leu241Gln
XM_017029064.2:c.722T>A	XP_016884553.1:p.Leu241Gln
XM_024452298.1:c.890T>A	XP_024308066.1:p.Leu297Gln
XM_024452299.1:c.722T>A	XP_024308067.1:p.Leu241Gln
XM_024452300.1:c.722T>A	XP_024308068.1:p.Leu241Gln
XR_001755361.2:n.2225T>A
XR_001755364.1:n.2081T>A
XR_001755366.2:n.2754T>A
XR_002958721.1:n.2303T>A
XR_937947.2:n.2303T>A
NM_001349898.2:c.1517T>A	NP_001336827.1:p.Leu506Gln
NM_001349899.2:c.1517T>A	NP_001336828.1:p.Leu506Gln
NM_001349900.2:c.1571T>A	NP_001336829.1:p.Leu524Gln
NM_001349903.2:c.1517T>A	NP_001336832.1:p.Leu506Gln
NM_001349904.2:c.1517T>A	NP_001336833.1:p.Leu506Gln
NR_073136.2:n.1772T>A
NR_146311.2:n.2214T>A
NR_146313.2:n.2059T>A
NR_146315.2:n.2130T>A
NM_022081.6:c.1517T>A MANE Select	NP_071364.4:p.Leu506Gln
NR_146316.2:n.2105T>A