Canonical Allele Identifier: CA513920299

Gene: HPS4

Linked Data

• ClinVar Variation Id: 2755004
• ClinVar RCV Id: RCV003564136
• MyVariant Identifiers: chr22:g.26853875C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457909C>T , CM000684.2:g.26457909C>T	GRCh38
NC_000022.10:g.26853875C>T , CM000684.1:g.26853875C>T	GRCh37
NC_000022.9:g.25183875C>T	NCBI36
NG_009763.2:g.30955G>A , LRG_590:g.30955G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1959G>A	ENSP00000415081.3:p.Leu653=
ENST00000473782.2:c.1905G>A	ENSP00000514223.1:p.Leu635=
ENST00000483631.2:c.1110G>A	ENSP00000514228.1:p.Leu370=
ENST00000491142.2:c.1905G>A	ENSP00000514221.1:p.Leu635=
ENST00000699226.1:n.4831G>A
ENST00000699227.1:c.*1249G>A	ENSP00000514220.1:n.*1249G>A
ENST00000699228.1:n.2455G>A
ENST00000699229.1:n.1322G>A
ENST00000699230.1:n.2628G>A
ENST00000699231.1:n.4917G>A
ENST00000699232.1:n.3261G>A
ENST00000699233.1:n.1776G>A
ENST00000699234.1:c.*1249G>A	ENSP00000514222.1:n.*1249G>A
ENST00000699235.1:c.1110G>A	ENSP00000514224.1:p.Leu370=
ENST00000699236.1:c.*1094G>A	ENSP00000514225.1:n.*1094G>A
ENST00000699237.1:c.*1094G>A	ENSP00000514226.1:n.*1094G>A
ENST00000699238.1:c.*1448G>A	ENSP00000514227.1:n.*1448G>A
ENST00000699239.1:n.4659G>A
ENST00000699240.1:c.*1562G>A	ENSP00000514229.1:n.*1562G>A
ENST00000699241.1:c.*2097G>A	ENSP00000514230.1:n.*2097G>A
ENST00000699242.1:c.1815G>A	ENSP00000514231.1:p.Leu605=
ENST00000699243.1:c.*1249G>A	ENSP00000514232.1:n.*1249G>A
ENST00000699244.1:c.1758G>A	ENSP00000514233.1:p.Leu586=
ENST00000699245.1:n.1197G>A
ENST00000699246.1:c.*1276G>A	ENSP00000514234.1:n.*1276G>A
ENST00000699247.1:c.861G>A	ENSP00000514235.1:p.Leu287=
ENST00000699248.1:n.3784-4505G>A
ENST00000699249.1:c.*1058-4505G>A	ENSP00000514236.1:n.*1058-4505G>A
ENST00000699250.1:c.1714-4505G>A	ENSP00000514237.1:n.1714-4505G>A
ENST00000699251.1:c.1905G>A	ENSP00000514238.1:p.Leu635=
ENST00000699252.1:n.2455G>A
ENST00000398145.7:c.1905G>A MANE Select	ENSP00000381213.2:p.Leu635=
ENST00000336873.9:c.1905G>A	ENSP00000338457.5:p.Leu635=
ENST00000398145.6:c.1905G>A	ENSP00000381213.2:p.Leu635=
ENST00000402105.7:c.1890G>A	ENSP00000384185.3:p.Leu630=
ENST00000429411.5:c.*1477G>A	ENSP00000399705.1:n.*1477G>A
ENST00000439453.5:c.*1423G>A	ENSP00000406764.1:n.*1423G>A
ENST00000464362.5:c.*2236G>A	ENSP00000430291.1:n.*2236G>A
ENST00000466781.5:n.4764G>A
ENST00000485842.5:n.596G>A
ENST00000493455.6:n.468G>A
ENST00000496385.5:n.2480-4505G>A
ENST00000519774.5:n.291G>A
NM_022081.5:c.1905G>A , LRG_590t1:c.1905G>A	NP_071364.4:p.Leu635=
NM_152841.2:c.1890G>A , LRG_590t2:c.1890G>A	NP_690054.1:p.Leu630=
NR_073135.1:n.2591G>A
NR_073136.1:n.2353G>A
XM_006724353.2:c.1959G>A	XP_006724416.1:p.Leu653=
XM_006724354.2:c.1959G>A	XP_006724417.1:p.Leu653=
XM_006724360.2:c.1392G>A	XP_006724423.1:p.Leu464=
XM_011530485.1:c.2037G>A	XP_011528787.1:p.Leu679=
XM_011530486.1:c.2037G>A	XP_011528788.1:p.Leu679=
XM_011530487.1:c.2037G>A	XP_011528789.1:p.Leu679=
XM_011530488.1:c.2037G>A	XP_011528790.1:p.Leu679=
XM_011530489.1:c.2037G>A	XP_011528791.1:p.Leu679=
XM_011530490.1:c.1983G>A	XP_011528792.1:p.Leu661=
XM_011530491.1:c.2037G>A	XP_011528793.1:p.Leu679=
XM_011530492.1:c.2037G>A	XP_011528794.1:p.Leu679=
XM_011530493.1:c.1846-4505G>A	XP_011528795.1:n.1846-4505G>A
XM_011530494.1:c.1245G>A	XP_011528796.1:p.Leu415=
XM_011530495.1:c.1392G>A	XP_011528797.1:p.Leu464=
XM_011530496.1:c.1245G>A	XP_011528798.1:p.Leu415=
XR_937947.1:n.2696G>A
NM_001349896.1:c.1905G>A	NP_001336825.1:p.Leu635=
NM_001349898.1:c.1905G>A	NP_001336827.1:p.Leu635=
NM_001349899.1:c.1905G>A	NP_001336828.1:p.Leu635=
NM_001349900.1:c.1959G>A	NP_001336829.1:p.Leu653=
NM_001349901.1:c.1959G>A	NP_001336830.1:p.Leu653=
NM_001349902.1:c.1714-4505G>A	NP_001336831.1:n.1714-4505G>A
NM_001349903.1:c.1714-4505G>A	NP_001336832.1:n.1714-4505G>A
NM_001349904.1:c.1905G>A	NP_001336833.1:p.Leu635=
NM_001349905.1:c.1905G>A	NP_001336834.1:p.Leu635=
NR_146311.1:n.2682G>A
NR_146312.1:n.2507G>A
NR_146313.1:n.2527G>A
NR_146314.1:n.2658G>A
NR_146315.1:n.2598G>A
NR_146316.1:n.2573G>A
XM_006724360.3:c.1392G>A	XP_006724423.1:p.Leu464=
XM_011530485.2:c.2037G>A	XP_011528787.1:p.Leu679=
XM_011530486.2:c.2037G>A	XP_011528788.1:p.Leu679=
XM_011530487.2:c.2037G>A	XP_011528789.1:p.Leu679=
XM_011530488.2:c.2037G>A	XP_011528790.1:p.Leu679=
XM_011530489.2:c.2037G>A	XP_011528791.1:p.Leu679=
XM_011530490.3:c.1983G>A	XP_011528792.1:p.Leu661=
XM_011530491.3:c.2037G>A	XP_011528793.1:p.Leu679=
XM_011530492.2:c.2037G>A	XP_011528794.1:p.Leu679=
XM_011530493.3:c.1846-4505G>A	XP_011528795.1:n.1846-4505G>A
XM_011530494.2:c.1245G>A	XP_011528796.1:p.Leu415=
XM_011530495.2:c.1392G>A	XP_011528797.1:p.Leu464=
XM_011530496.2:c.1245G>A	XP_011528798.1:p.Leu415=
XM_017029045.2:c.1983G>A	XP_016884534.1:p.Leu661=
XM_017029046.2:c.1905G>A	XP_016884535.1:p.Leu635=
XM_017029047.2:c.1792-4505G>A	XP_016884536.1:n.1792-4505G>A
XM_017029052.2:c.1497G>A	XP_016884541.1:p.Leu499=
XM_017029053.1:c.1482G>A	XP_016884542.1:p.Leu494=
XM_017029056.2:c.1110G>A	XP_016884545.1:p.Leu370=
XM_017029061.2:c.1110G>A	XP_016884550.1:p.Leu370=
XM_017029062.2:c.1110G>A	XP_016884551.1:p.Leu370=
XM_017029063.2:c.1110G>A	XP_016884552.1:p.Leu370=
XM_017029064.2:c.1110G>A	XP_016884553.1:p.Leu370=
XM_024452298.1:c.1278G>A	XP_024308066.1:p.Leu426=
XM_024452299.1:c.1110G>A	XP_024308067.1:p.Leu370=
XM_024452300.1:c.1110G>A	XP_024308068.1:p.Leu370=
XR_001755361.2:n.2613G>A
XR_001755364.1:n.2278-4505G>A
XR_001755366.2:n.3142G>A
XR_002958721.1:n.2500-4505G>A
XR_937947.2:n.2691G>A
NM_001349898.2:c.1905G>A	NP_001336827.1:p.Leu635=
NM_001349899.2:c.1905G>A	NP_001336828.1:p.Leu635=
NM_001349900.2:c.1959G>A	NP_001336829.1:p.Leu653=
NM_001349903.2:c.1714-4505G>A	NP_001336832.1:n.1714-4505G>A
NM_001349904.2:c.1905G>A	NP_001336833.1:p.Leu635=
NR_073136.2:n.2160G>A
NR_146311.2:n.2602G>A
NR_146313.2:n.2447G>A
NR_146315.2:n.2518G>A
NM_022081.6:c.1905G>A MANE Select	NP_071364.4:p.Leu635=
NR_146316.2:n.2493G>A