Canonical Allele Identifier: CA10163162

Gene: HPS4

Linked Data

• ClinVar Variation Id: 2704268
• ClinVar RCV Id: RCV003572866
• dbSNP Id: rs370795890
• ExAC: 22:26853884 G / A
• gnomAD v2: 22-26853884-G-A
• gnomAD v3: 22-26457918-G-A
• gnomAD v4: 22-26457918-G-A
• MyVariant Identifiers: chr22:g.26853884G>A (hg19) ; chr22:g.26457918G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457918G>A , CM000684.2:g.26457918G>A	GRCh38
NC_000022.10:g.26853884G>A , CM000684.1:g.26853884G>A	GRCh37
NC_000022.9:g.25183884G>A	NCBI36
NG_009763.2:g.30946C>T , LRG_590:g.30946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1950C>T	ENSP00000415081.3:p.Ala650=
ENST00000473782.2:c.1896C>T	ENSP00000514223.1:p.Ala632=
ENST00000483631.2:c.1101C>T	ENSP00000514228.1:p.Ala367=
ENST00000491142.2:c.1896C>T	ENSP00000514221.1:p.Ala632=
ENST00000699226.1:n.4822C>T
ENST00000699227.1:c.*1240C>T	ENSP00000514220.1:n.*1240C>T
ENST00000699228.1:n.2446C>T
ENST00000699229.1:n.1313C>T
ENST00000699230.1:n.2619C>T
ENST00000699231.1:n.4908C>T
ENST00000699232.1:n.3252C>T
ENST00000699233.1:n.1767C>T
ENST00000699234.1:c.*1240C>T	ENSP00000514222.1:n.*1240C>T
ENST00000699235.1:c.1101C>T	ENSP00000514224.1:p.Ala367=
ENST00000699236.1:c.*1085C>T	ENSP00000514225.1:n.*1085C>T
ENST00000699237.1:c.*1085C>T	ENSP00000514226.1:n.*1085C>T
ENST00000699238.1:c.*1439C>T	ENSP00000514227.1:n.*1439C>T
ENST00000699239.1:n.4650C>T
ENST00000699240.1:c.*1553C>T	ENSP00000514229.1:n.*1553C>T
ENST00000699241.1:c.*2088C>T	ENSP00000514230.1:n.*2088C>T
ENST00000699242.1:c.1806C>T	ENSP00000514231.1:p.Ala602=
ENST00000699243.1:c.*1240C>T	ENSP00000514232.1:n.*1240C>T
ENST00000699244.1:c.1749C>T	ENSP00000514233.1:p.Ala583=
ENST00000699245.1:n.1188C>T
ENST00000699246.1:c.*1267C>T	ENSP00000514234.1:n.*1267C>T
ENST00000699247.1:c.852C>T	ENSP00000514235.1:p.Ala284=
ENST00000699248.1:n.3784-4514C>T
ENST00000699249.1:c.*1058-4514C>T	ENSP00000514236.1:n.*1058-4514C>T
ENST00000699250.1:c.1714-4514C>T	ENSP00000514237.1:n.1714-4514C>T
ENST00000699251.1:c.1896C>T	ENSP00000514238.1:p.Ala632=
ENST00000699252.1:n.2446C>T
ENST00000398145.7:c.1896C>T MANE Select	ENSP00000381213.2:p.Ala632=
ENST00000336873.9:c.1896C>T	ENSP00000338457.5:p.Ala632=
ENST00000398145.6:c.1896C>T	ENSP00000381213.2:p.Ala632=
ENST00000402105.7:c.1881C>T	ENSP00000384185.3:p.Ala627=
ENST00000429411.5:c.*1468C>T	ENSP00000399705.1:n.*1468C>T
ENST00000439453.5:c.*1414C>T	ENSP00000406764.1:n.*1414C>T
ENST00000464362.5:c.*2227C>T	ENSP00000430291.1:n.*2227C>T
ENST00000466781.5:n.4755C>T
ENST00000485842.5:n.587C>T
ENST00000493455.6:n.459C>T
ENST00000496385.5:n.2480-4514C>T
ENST00000519774.5:n.282C>T
NM_022081.5:c.1896C>T , LRG_590t1:c.1896C>T	NP_071364.4:p.Ala632=
NM_152841.2:c.1881C>T , LRG_590t2:c.1881C>T	NP_690054.1:p.Ala627=
NR_073135.1:n.2582C>T
NR_073136.1:n.2344C>T
XM_006724353.2:c.1950C>T	XP_006724416.1:p.Ala650=
XM_006724354.2:c.1950C>T	XP_006724417.1:p.Ala650=
XM_006724360.2:c.1383C>T	XP_006724423.1:p.Ala461=
XM_011530485.1:c.2028C>T	XP_011528787.1:p.Ala676=
XM_011530486.1:c.2028C>T	XP_011528788.1:p.Ala676=
XM_011530487.1:c.2028C>T	XP_011528789.1:p.Ala676=
XM_011530488.1:c.2028C>T	XP_011528790.1:p.Ala676=
XM_011530489.1:c.2028C>T	XP_011528791.1:p.Ala676=
XM_011530490.1:c.1974C>T	XP_011528792.1:p.Ala658=
XM_011530491.1:c.2028C>T	XP_011528793.1:p.Ala676=
XM_011530492.1:c.2028C>T	XP_011528794.1:p.Ala676=
XM_011530493.1:c.1846-4514C>T	XP_011528795.1:n.1846-4514C>T
XM_011530494.1:c.1236C>T	XP_011528796.1:p.Ala412=
XM_011530495.1:c.1383C>T	XP_011528797.1:p.Ala461=
XM_011530496.1:c.1236C>T	XP_011528798.1:p.Ala412=
XR_937947.1:n.2687C>T
NM_001349896.1:c.1896C>T	NP_001336825.1:p.Ala632=
NM_001349898.1:c.1896C>T	NP_001336827.1:p.Ala632=
NM_001349899.1:c.1896C>T	NP_001336828.1:p.Ala632=
NM_001349900.1:c.1950C>T	NP_001336829.1:p.Ala650=
NM_001349901.1:c.1950C>T	NP_001336830.1:p.Ala650=
NM_001349902.1:c.1714-4514C>T	NP_001336831.1:n.1714-4514C>T
NM_001349903.1:c.1714-4514C>T	NP_001336832.1:n.1714-4514C>T
NM_001349904.1:c.1896C>T	NP_001336833.1:p.Ala632=
NM_001349905.1:c.1896C>T	NP_001336834.1:p.Ala632=
NR_146311.1:n.2673C>T
NR_146312.1:n.2498C>T
NR_146313.1:n.2518C>T
NR_146314.1:n.2649C>T
NR_146315.1:n.2589C>T
NR_146316.1:n.2564C>T
XM_006724360.3:c.1383C>T	XP_006724423.1:p.Ala461=
XM_011530485.2:c.2028C>T	XP_011528787.1:p.Ala676=
XM_011530486.2:c.2028C>T	XP_011528788.1:p.Ala676=
XM_011530487.2:c.2028C>T	XP_011528789.1:p.Ala676=
XM_011530488.2:c.2028C>T	XP_011528790.1:p.Ala676=
XM_011530489.2:c.2028C>T	XP_011528791.1:p.Ala676=
XM_011530490.3:c.1974C>T	XP_011528792.1:p.Ala658=
XM_011530491.3:c.2028C>T	XP_011528793.1:p.Ala676=
XM_011530492.2:c.2028C>T	XP_011528794.1:p.Ala676=
XM_011530493.3:c.1846-4514C>T	XP_011528795.1:n.1846-4514C>T
XM_011530494.2:c.1236C>T	XP_011528796.1:p.Ala412=
XM_011530495.2:c.1383C>T	XP_011528797.1:p.Ala461=
XM_011530496.2:c.1236C>T	XP_011528798.1:p.Ala412=
XM_017029045.2:c.1974C>T	XP_016884534.1:p.Ala658=
XM_017029046.2:c.1896C>T	XP_016884535.1:p.Ala632=
XM_017029047.2:c.1792-4514C>T	XP_016884536.1:n.1792-4514C>T
XM_017029052.2:c.1488C>T	XP_016884541.1:p.Ala496=
XM_017029053.1:c.1473C>T	XP_016884542.1:p.Ala491=
XM_017029056.2:c.1101C>T	XP_016884545.1:p.Ala367=
XM_017029061.2:c.1101C>T	XP_016884550.1:p.Ala367=
XM_017029062.2:c.1101C>T	XP_016884551.1:p.Ala367=
XM_017029063.2:c.1101C>T	XP_016884552.1:p.Ala367=
XM_017029064.2:c.1101C>T	XP_016884553.1:p.Ala367=
XM_024452298.1:c.1269C>T	XP_024308066.1:p.Ala423=
XM_024452299.1:c.1101C>T	XP_024308067.1:p.Ala367=
XM_024452300.1:c.1101C>T	XP_024308068.1:p.Ala367=
XR_001755361.2:n.2604C>T
XR_001755364.1:n.2278-4514C>T
XR_001755366.2:n.3133C>T
XR_002958721.1:n.2500-4514C>T
XR_937947.2:n.2682C>T
NM_001349898.2:c.1896C>T	NP_001336827.1:p.Ala632=
NM_001349899.2:c.1896C>T	NP_001336828.1:p.Ala632=
NM_001349900.2:c.1950C>T	NP_001336829.1:p.Ala650=
NM_001349903.2:c.1714-4514C>T	NP_001336832.1:n.1714-4514C>T
NM_001349904.2:c.1896C>T	NP_001336833.1:p.Ala632=
NR_073136.2:n.2151C>T
NR_146311.2:n.2593C>T
NR_146313.2:n.2438C>T
NR_146315.2:n.2509C>T
NM_022081.6:c.1896C>T MANE Select	NP_071364.4:p.Ala632=
NR_146316.2:n.2484C>T