Canonical Allele Identifier: CA411027036

Gene: HPS4

Linked Data

• ClinVar Variation Id: 1464978
• ClinVar RCV Id: RCV001963588
• dbSNP Id: rs1411662887
• gnomAD v2: 22-26860181-G-A
• gnomAD v3: 22-26464215-G-A
• gnomAD v4: 22-26464215-G-A
• MyVariant Identifiers: chr22:g.26860181G>A (hg19) ; chr22:g.26464215G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26464215G>A , CM000684.2:g.26464215G>A	GRCh38
NC_000022.10:g.26860181G>A , CM000684.1:g.26860181G>A	GRCh37
NC_000022.9:g.25190181G>A	NCBI36
NG_009763.2:g.24649C>T , LRG_590:g.24649C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000422379.3:c.1469C>T	ENSP00000415081.3:p.Pro490Leu
ENST00000473782.2:c.1415C>T	ENSP00000514223.1:p.Pro472Leu
ENST00000483631.2:c.620C>T	ENSP00000514228.1:p.Pro207Leu
ENST00000491142.2:c.1415C>T	ENSP00000514221.1:p.Pro472Leu
ENST00000699226.1:n.4341C>T
ENST00000699227.1:c.*759C>T	ENSP00000514220.1:n.*759C>T
ENST00000699228.1:n.1965C>T
ENST00000699229.1:n.832C>T
ENST00000699230.1:n.2138C>T
ENST00000699231.1:n.4427C>T
ENST00000699232.1:n.2771C>T
ENST00000699233.1:n.1286C>T
ENST00000699234.1:c.*759C>T	ENSP00000514222.1:n.*759C>T
ENST00000699235.1:c.620C>T	ENSP00000514224.1:p.Pro207Leu
ENST00000699236.1:c.*604C>T	ENSP00000514225.1:n.*604C>T
ENST00000699237.1:c.*604C>T	ENSP00000514226.1:n.*604C>T
ENST00000699238.1:c.*958C>T	ENSP00000514227.1:n.*958C>T
ENST00000699239.1:n.4169C>T
ENST00000699240.1:c.*1072C>T	ENSP00000514229.1:n.*1072C>T
ENST00000699241.1:c.*1607C>T	ENSP00000514230.1:n.*1607C>T
ENST00000699242.1:c.1325C>T	ENSP00000514231.1:p.Pro442Leu
ENST00000699243.1:c.*759C>T	ENSP00000514232.1:n.*759C>T
ENST00000699244.1:c.1268C>T	ENSP00000514233.1:p.Pro423Leu
ENST00000699246.1:c.*786C>T	ENSP00000514234.1:n.*786C>T
ENST00000699247.1:c.669+4336C>T	ENSP00000514235.1:n.669+4336C>T
ENST00000699248.1:n.3485C>T
ENST00000699249.1:c.*759C>T	ENSP00000514236.1:n.*759C>T
ENST00000699250.1:c.1415C>T	ENSP00000514237.1:p.Pro472Leu
ENST00000699251.1:c.1415C>T	ENSP00000514238.1:p.Pro472Leu
ENST00000699252.1:n.1965C>T
ENST00000398145.7:c.1415C>T MANE Select	ENSP00000381213.2:p.Pro472Leu
ENST00000336873.9:c.1415C>T	ENSP00000338457.5:p.Pro472Leu
ENST00000398145.6:c.1415C>T	ENSP00000381213.2:p.Pro472Leu
ENST00000402105.7:c.1400C>T	ENSP00000384185.3:p.Pro467Leu
ENST00000429411.5:c.*987C>T	ENSP00000399705.1:n.*987C>T
ENST00000439453.5:c.*933C>T	ENSP00000406764.1:n.*933C>T
ENST00000464362.5:c.*1746C>T	ENSP00000430291.1:n.*1746C>T
ENST00000466781.5:n.4274C>T
ENST00000485842.5:n.404+4336C>T
ENST00000496385.5:n.2181C>T
NM_022081.5:c.1415C>T , LRG_590t1:c.1415C>T	NP_071364.4:p.Pro472Leu
NM_152841.2:c.1400C>T , LRG_590t2:c.1400C>T	NP_690054.1:p.Pro467Leu
NR_073135.1:n.2101C>T
NR_073136.1:n.1863C>T
XM_006724353.2:c.1469C>T	XP_006724416.1:p.Pro490Leu
XM_006724354.2:c.1469C>T	XP_006724417.1:p.Pro490Leu
XM_006724360.2:c.902C>T	XP_006724423.1:p.Pro301Leu
XM_011530485.1:c.1547C>T	XP_011528787.1:p.Pro516Leu
XM_011530486.1:c.1547C>T	XP_011528788.1:p.Pro516Leu
XM_011530487.1:c.1547C>T	XP_011528789.1:p.Pro516Leu
XM_011530488.1:c.1547C>T	XP_011528790.1:p.Pro516Leu
XM_011530489.1:c.1547C>T	XP_011528791.1:p.Pro516Leu
XM_011530490.1:c.1493C>T	XP_011528792.1:p.Pro498Leu
XM_011530491.1:c.1547C>T	XP_011528793.1:p.Pro516Leu
XM_011530492.1:c.1547C>T	XP_011528794.1:p.Pro516Leu
XM_011530493.1:c.1547C>T	XP_011528795.1:p.Pro516Leu
XM_011530494.1:c.755C>T	XP_011528796.1:p.Pro252Leu
XM_011530495.1:c.902C>T	XP_011528797.1:p.Pro301Leu
XM_011530496.1:c.755C>T	XP_011528798.1:p.Pro252Leu
XR_937947.1:n.2206C>T
NM_001349896.1:c.1415C>T	NP_001336825.1:p.Pro472Leu
NM_001349898.1:c.1415C>T	NP_001336827.1:p.Pro472Leu
NM_001349899.1:c.1415C>T	NP_001336828.1:p.Pro472Leu
NM_001349900.1:c.1469C>T	NP_001336829.1:p.Pro490Leu
NM_001349901.1:c.1469C>T	NP_001336830.1:p.Pro490Leu
NM_001349902.1:c.1415C>T	NP_001336831.1:p.Pro472Leu
NM_001349903.1:c.1415C>T	NP_001336832.1:p.Pro472Leu
NM_001349904.1:c.1415C>T	NP_001336833.1:p.Pro472Leu
NM_001349905.1:c.1415C>T	NP_001336834.1:p.Pro472Leu
NR_146311.1:n.2192C>T
NR_146312.1:n.2017C>T
NR_146313.1:n.2037C>T
NR_146314.1:n.2168C>T
NR_146315.1:n.2108C>T
NR_146316.1:n.2083C>T
XM_006724360.3:c.902C>T	XP_006724423.1:p.Pro301Leu
XM_011530485.2:c.1547C>T	XP_011528787.1:p.Pro516Leu
XM_011530486.2:c.1547C>T	XP_011528788.1:p.Pro516Leu
XM_011530487.2:c.1547C>T	XP_011528789.1:p.Pro516Leu
XM_011530488.2:c.1547C>T	XP_011528790.1:p.Pro516Leu
XM_011530489.2:c.1547C>T	XP_011528791.1:p.Pro516Leu
XM_011530490.3:c.1493C>T	XP_011528792.1:p.Pro498Leu
XM_011530491.3:c.1547C>T	XP_011528793.1:p.Pro516Leu
XM_011530492.2:c.1547C>T	XP_011528794.1:p.Pro516Leu
XM_011530493.3:c.1547C>T	XP_011528795.1:p.Pro516Leu
XM_011530494.2:c.755C>T	XP_011528796.1:p.Pro252Leu
XM_011530495.2:c.902C>T	XP_011528797.1:p.Pro301Leu
XM_011530496.2:c.755C>T	XP_011528798.1:p.Pro252Leu
XM_017029045.2:c.1493C>T	XP_016884534.1:p.Pro498Leu
XM_017029046.2:c.1415C>T	XP_016884535.1:p.Pro472Leu
XM_017029047.2:c.1493C>T	XP_016884536.1:p.Pro498Leu
XM_017029052.2:c.1007C>T	XP_016884541.1:p.Pro336Leu
XM_017029053.1:c.992C>T	XP_016884542.1:p.Pro331Leu
XM_017029056.2:c.620C>T	XP_016884545.1:p.Pro207Leu
XM_017029061.2:c.620C>T	XP_016884550.1:p.Pro207Leu
XM_017029062.2:c.620C>T	XP_016884551.1:p.Pro207Leu
XM_017029063.2:c.620C>T	XP_016884552.1:p.Pro207Leu
XM_017029064.2:c.620C>T	XP_016884553.1:p.Pro207Leu
XM_024452298.1:c.788C>T	XP_024308066.1:p.Pro263Leu
XM_024452299.1:c.620C>T	XP_024308067.1:p.Pro207Leu
XM_024452300.1:c.620C>T	XP_024308068.1:p.Pro207Leu
XR_001755361.2:n.2123C>T
XR_001755364.1:n.1979C>T
XR_001755366.2:n.2652C>T
XR_002958721.1:n.2201C>T
XR_937947.2:n.2201C>T
NM_001349898.2:c.1415C>T	NP_001336827.1:p.Pro472Leu
NM_001349899.2:c.1415C>T	NP_001336828.1:p.Pro472Leu
NM_001349900.2:c.1469C>T	NP_001336829.1:p.Pro490Leu
NM_001349903.2:c.1415C>T	NP_001336832.1:p.Pro472Leu
NM_001349904.2:c.1415C>T	NP_001336833.1:p.Pro472Leu
NR_073136.2:n.1670C>T
NR_146311.2:n.2112C>T
NR_146313.2:n.1957C>T
NR_146315.2:n.2028C>T
NM_022081.6:c.1415C>T MANE Select	NP_071364.4:p.Pro472Leu
NR_146316.2:n.2003C>T