Canonical Allele Identifier: CA10163159

Gene: HPS4

Linked Data

• ClinVar Variation Id: 2421801
• ClinVar RCV Id: RCV003116102
• dbSNP Id: rs553114134
• ExAC: 22:26853878 G / A
• gnomAD v2: 22-26853878-G-A
• gnomAD v3: 22-26457912-G-A
• gnomAD v4: 22-26457912-G-A
• MyVariant Identifiers: chr22:g.26853878G>A (hg19) ; chr22:g.26457912G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457912G>A , CM000684.2:g.26457912G>A	GRCh38
NC_000022.10:g.26853878G>A , CM000684.1:g.26853878G>A	GRCh37
NC_000022.9:g.25183878G>A	NCBI36
NG_009763.2:g.30952C>T , LRG_590:g.30952C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1956C>T	ENSP00000415081.3:p.Ser652=
ENST00000473782.2:c.1902C>T	ENSP00000514223.1:p.Ser634=
ENST00000483631.2:c.1107C>T	ENSP00000514228.1:p.Ser369=
ENST00000491142.2:c.1902C>T	ENSP00000514221.1:p.Ser634=
ENST00000699226.1:n.4828C>T
ENST00000699227.1:c.*1246C>T	ENSP00000514220.1:n.*1246C>T
ENST00000699228.1:n.2452C>T
ENST00000699229.1:n.1319C>T
ENST00000699230.1:n.2625C>T
ENST00000699231.1:n.4914C>T
ENST00000699232.1:n.3258C>T
ENST00000699233.1:n.1773C>T
ENST00000699234.1:c.*1246C>T	ENSP00000514222.1:n.*1246C>T
ENST00000699235.1:c.1107C>T	ENSP00000514224.1:p.Ser369=
ENST00000699236.1:c.*1091C>T	ENSP00000514225.1:n.*1091C>T
ENST00000699237.1:c.*1091C>T	ENSP00000514226.1:n.*1091C>T
ENST00000699238.1:c.*1445C>T	ENSP00000514227.1:n.*1445C>T
ENST00000699239.1:n.4656C>T
ENST00000699240.1:c.*1559C>T	ENSP00000514229.1:n.*1559C>T
ENST00000699241.1:c.*2094C>T	ENSP00000514230.1:n.*2094C>T
ENST00000699242.1:c.1812C>T	ENSP00000514231.1:p.Ser604=
ENST00000699243.1:c.*1246C>T	ENSP00000514232.1:n.*1246C>T
ENST00000699244.1:c.1755C>T	ENSP00000514233.1:p.Ser585=
ENST00000699245.1:n.1194C>T
ENST00000699246.1:c.*1273C>T	ENSP00000514234.1:n.*1273C>T
ENST00000699247.1:c.858C>T	ENSP00000514235.1:p.Ser286=
ENST00000699248.1:n.3784-4508C>T
ENST00000699249.1:c.*1058-4508C>T	ENSP00000514236.1:n.*1058-4508C>T
ENST00000699250.1:c.1714-4508C>T	ENSP00000514237.1:n.1714-4508C>T
ENST00000699251.1:c.1902C>T	ENSP00000514238.1:p.Ser634=
ENST00000699252.1:n.2452C>T
ENST00000398145.7:c.1902C>T MANE Select	ENSP00000381213.2:p.Ser634=
ENST00000336873.9:c.1902C>T	ENSP00000338457.5:p.Ser634=
ENST00000398145.6:c.1902C>T	ENSP00000381213.2:p.Ser634=
ENST00000402105.7:c.1887C>T	ENSP00000384185.3:p.Ser629=
ENST00000429411.5:c.*1474C>T	ENSP00000399705.1:n.*1474C>T
ENST00000439453.5:c.*1420C>T	ENSP00000406764.1:n.*1420C>T
ENST00000464362.5:c.*2233C>T	ENSP00000430291.1:n.*2233C>T
ENST00000466781.5:n.4761C>T
ENST00000485842.5:n.593C>T
ENST00000493455.6:n.465C>T
ENST00000496385.5:n.2480-4508C>T
ENST00000519774.5:n.288C>T
NM_022081.5:c.1902C>T , LRG_590t1:c.1902C>T	NP_071364.4:p.Ser634=
NM_152841.2:c.1887C>T , LRG_590t2:c.1887C>T	NP_690054.1:p.Ser629=
NR_073135.1:n.2588C>T
NR_073136.1:n.2350C>T
XM_006724353.2:c.1956C>T	XP_006724416.1:p.Ser652=
XM_006724354.2:c.1956C>T	XP_006724417.1:p.Ser652=
XM_006724360.2:c.1389C>T	XP_006724423.1:p.Ser463=
XM_011530485.1:c.2034C>T	XP_011528787.1:p.Ser678=
XM_011530486.1:c.2034C>T	XP_011528788.1:p.Ser678=
XM_011530487.1:c.2034C>T	XP_011528789.1:p.Ser678=
XM_011530488.1:c.2034C>T	XP_011528790.1:p.Ser678=
XM_011530489.1:c.2034C>T	XP_011528791.1:p.Ser678=
XM_011530490.1:c.1980C>T	XP_011528792.1:p.Ser660=
XM_011530491.1:c.2034C>T	XP_011528793.1:p.Ser678=
XM_011530492.1:c.2034C>T	XP_011528794.1:p.Ser678=
XM_011530493.1:c.1846-4508C>T	XP_011528795.1:n.1846-4508C>T
XM_011530494.1:c.1242C>T	XP_011528796.1:p.Ser414=
XM_011530495.1:c.1389C>T	XP_011528797.1:p.Ser463=
XM_011530496.1:c.1242C>T	XP_011528798.1:p.Ser414=
XR_937947.1:n.2693C>T
NM_001349896.1:c.1902C>T	NP_001336825.1:p.Ser634=
NM_001349898.1:c.1902C>T	NP_001336827.1:p.Ser634=
NM_001349899.1:c.1902C>T	NP_001336828.1:p.Ser634=
NM_001349900.1:c.1956C>T	NP_001336829.1:p.Ser652=
NM_001349901.1:c.1956C>T	NP_001336830.1:p.Ser652=
NM_001349902.1:c.1714-4508C>T	NP_001336831.1:n.1714-4508C>T
NM_001349903.1:c.1714-4508C>T	NP_001336832.1:n.1714-4508C>T
NM_001349904.1:c.1902C>T	NP_001336833.1:p.Ser634=
NM_001349905.1:c.1902C>T	NP_001336834.1:p.Ser634=
NR_146311.1:n.2679C>T
NR_146312.1:n.2504C>T
NR_146313.1:n.2524C>T
NR_146314.1:n.2655C>T
NR_146315.1:n.2595C>T
NR_146316.1:n.2570C>T
XM_006724360.3:c.1389C>T	XP_006724423.1:p.Ser463=
XM_011530485.2:c.2034C>T	XP_011528787.1:p.Ser678=
XM_011530486.2:c.2034C>T	XP_011528788.1:p.Ser678=
XM_011530487.2:c.2034C>T	XP_011528789.1:p.Ser678=
XM_011530488.2:c.2034C>T	XP_011528790.1:p.Ser678=
XM_011530489.2:c.2034C>T	XP_011528791.1:p.Ser678=
XM_011530490.3:c.1980C>T	XP_011528792.1:p.Ser660=
XM_011530491.3:c.2034C>T	XP_011528793.1:p.Ser678=
XM_011530492.2:c.2034C>T	XP_011528794.1:p.Ser678=
XM_011530493.3:c.1846-4508C>T	XP_011528795.1:n.1846-4508C>T
XM_011530494.2:c.1242C>T	XP_011528796.1:p.Ser414=
XM_011530495.2:c.1389C>T	XP_011528797.1:p.Ser463=
XM_011530496.2:c.1242C>T	XP_011528798.1:p.Ser414=
XM_017029045.2:c.1980C>T	XP_016884534.1:p.Ser660=
XM_017029046.2:c.1902C>T	XP_016884535.1:p.Ser634=
XM_017029047.2:c.1792-4508C>T	XP_016884536.1:n.1792-4508C>T
XM_017029052.2:c.1494C>T	XP_016884541.1:p.Ser498=
XM_017029053.1:c.1479C>T	XP_016884542.1:p.Ser493=
XM_017029056.2:c.1107C>T	XP_016884545.1:p.Ser369=
XM_017029061.2:c.1107C>T	XP_016884550.1:p.Ser369=
XM_017029062.2:c.1107C>T	XP_016884551.1:p.Ser369=
XM_017029063.2:c.1107C>T	XP_016884552.1:p.Ser369=
XM_017029064.2:c.1107C>T	XP_016884553.1:p.Ser369=
XM_024452298.1:c.1275C>T	XP_024308066.1:p.Ser425=
XM_024452299.1:c.1107C>T	XP_024308067.1:p.Ser369=
XM_024452300.1:c.1107C>T	XP_024308068.1:p.Ser369=
XR_001755361.2:n.2610C>T
XR_001755364.1:n.2278-4508C>T
XR_001755366.2:n.3139C>T
XR_002958721.1:n.2500-4508C>T
XR_937947.2:n.2688C>T
NM_001349898.2:c.1902C>T	NP_001336827.1:p.Ser634=
NM_001349899.2:c.1902C>T	NP_001336828.1:p.Ser634=
NM_001349900.2:c.1956C>T	NP_001336829.1:p.Ser652=
NM_001349903.2:c.1714-4508C>T	NP_001336832.1:n.1714-4508C>T
NM_001349904.2:c.1902C>T	NP_001336833.1:p.Ser634=
NR_073136.2:n.2157C>T
NR_146311.2:n.2599C>T
NR_146313.2:n.2444C>T
NR_146315.2:n.2515C>T
NM_022081.6:c.1902C>T MANE Select	NP_071364.4:p.Ser634=
NR_146316.2:n.2490C>T