Canonical Allele Identifier: CA411023795

Gene: HPS4

Linked Data

• dbSNP Id: rs373905924
• gnomAD v3: 22-26457883-G-A
• gnomAD v4: 22-26457883-G-A
• MyVariant Identifiers: chr22:g.26853849G>A (hg19) ; chr22:g.26457883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457883G>A , CM000684.2:g.26457883G>A	GRCh38
NC_000022.10:g.26853849G>A , CM000684.1:g.26853849G>A	GRCh37
NC_000022.9:g.25183849G>A	NCBI36
NG_009763.2:g.30981C>T , LRG_590:g.30981C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1985C>T	ENSP00000415081.3:p.Pro662Leu
ENST00000473782.2:c.1931C>T	ENSP00000514223.1:p.Pro644Leu
ENST00000483631.2:c.1136C>T	ENSP00000514228.1:p.Pro379Leu
ENST00000491142.2:c.1931C>T	ENSP00000514221.1:p.Pro644Leu
ENST00000699226.1:n.4857C>T
ENST00000699227.1:c.*1275C>T	ENSP00000514220.1:n.*1275C>T
ENST00000699228.1:n.2481C>T
ENST00000699229.1:n.1348C>T
ENST00000699230.1:n.2654C>T
ENST00000699231.1:n.4943C>T
ENST00000699232.1:n.3287C>T
ENST00000699233.1:n.1802C>T
ENST00000699234.1:c.*1275C>T	ENSP00000514222.1:n.*1275C>T
ENST00000699235.1:c.1136C>T	ENSP00000514224.1:p.Pro379Leu
ENST00000699236.1:c.*1120C>T	ENSP00000514225.1:n.*1120C>T
ENST00000699237.1:c.*1120C>T	ENSP00000514226.1:n.*1120C>T
ENST00000699238.1:c.*1474C>T	ENSP00000514227.1:n.*1474C>T
ENST00000699239.1:n.4685C>T
ENST00000699240.1:c.*1588C>T	ENSP00000514229.1:n.*1588C>T
ENST00000699241.1:c.*2123C>T	ENSP00000514230.1:n.*2123C>T
ENST00000699242.1:c.1841C>T	ENSP00000514231.1:p.Pro614Leu
ENST00000699243.1:c.*1275C>T	ENSP00000514232.1:n.*1275C>T
ENST00000699244.1:c.1784C>T	ENSP00000514233.1:p.Pro595Leu
ENST00000699245.1:n.1223C>T
ENST00000699246.1:c.*1302C>T	ENSP00000514234.1:n.*1302C>T
ENST00000699247.1:c.887C>T	ENSP00000514235.1:p.Pro296Leu
ENST00000699248.1:n.3784-4479C>T
ENST00000699249.1:c.*1058-4479C>T	ENSP00000514236.1:n.*1058-4479C>T
ENST00000699250.1:c.1714-4479C>T	ENSP00000514237.1:n.1714-4479C>T
ENST00000699251.1:c.1931C>T	ENSP00000514238.1:p.Pro644Leu
ENST00000699252.1:n.2481C>T
ENST00000398145.7:c.1931C>T MANE Select	ENSP00000381213.2:p.Pro644Leu
ENST00000336873.9:c.1931C>T	ENSP00000338457.5:p.Pro644Leu
ENST00000398145.6:c.1931C>T	ENSP00000381213.2:p.Pro644Leu
ENST00000402105.7:c.1916C>T	ENSP00000384185.3:p.Pro639Leu
ENST00000429411.5:c.*1503C>T	ENSP00000399705.1:n.*1503C>T
ENST00000439453.5:c.*1449C>T	ENSP00000406764.1:n.*1449C>T
ENST00000464362.5:c.*2262C>T	ENSP00000430291.1:n.*2262C>T
ENST00000466781.5:n.4790C>T
ENST00000485842.5:n.622C>T
ENST00000493455.6:n.494C>T
ENST00000496385.5:n.2480-4479C>T
ENST00000519774.5:n.317C>T
NM_022081.5:c.1931C>T , LRG_590t1:c.1931C>T	NP_071364.4:p.Pro644Leu
NM_152841.2:c.1916C>T , LRG_590t2:c.1916C>T	NP_690054.1:p.Pro639Leu
NR_073135.1:n.2617C>T
NR_073136.1:n.2379C>T
XM_006724353.2:c.1985C>T	XP_006724416.1:p.Pro662Leu
XM_006724354.2:c.1985C>T	XP_006724417.1:p.Pro662Leu
XM_006724360.2:c.1418C>T	XP_006724423.1:p.Pro473Leu
XM_011530485.1:c.2063C>T	XP_011528787.1:p.Pro688Leu
XM_011530486.1:c.2063C>T	XP_011528788.1:p.Pro688Leu
XM_011530487.1:c.2063C>T	XP_011528789.1:p.Pro688Leu
XM_011530488.1:c.2063C>T	XP_011528790.1:p.Pro688Leu
XM_011530489.1:c.2063C>T	XP_011528791.1:p.Pro688Leu
XM_011530490.1:c.2009C>T	XP_011528792.1:p.Pro670Leu
XM_011530491.1:c.2063C>T	XP_011528793.1:p.Pro688Leu
XM_011530492.1:c.2063C>T	XP_011528794.1:p.Pro688Leu
XM_011530493.1:c.1846-4479C>T	XP_011528795.1:n.1846-4479C>T
XM_011530494.1:c.1271C>T	XP_011528796.1:p.Pro424Leu
XM_011530495.1:c.1418C>T	XP_011528797.1:p.Pro473Leu
XM_011530496.1:c.1271C>T	XP_011528798.1:p.Pro424Leu
XR_937947.1:n.2722C>T
NM_001349896.1:c.1931C>T	NP_001336825.1:p.Pro644Leu
NM_001349898.1:c.1931C>T	NP_001336827.1:p.Pro644Leu
NM_001349899.1:c.1931C>T	NP_001336828.1:p.Pro644Leu
NM_001349900.1:c.1985C>T	NP_001336829.1:p.Pro662Leu
NM_001349901.1:c.1985C>T	NP_001336830.1:p.Pro662Leu
NM_001349902.1:c.1714-4479C>T	NP_001336831.1:n.1714-4479C>T
NM_001349903.1:c.1714-4479C>T	NP_001336832.1:n.1714-4479C>T
NM_001349904.1:c.1931C>T	NP_001336833.1:p.Pro644Leu
NM_001349905.1:c.1931C>T	NP_001336834.1:p.Pro644Leu
NR_146311.1:n.2708C>T
NR_146312.1:n.2533C>T
NR_146313.1:n.2553C>T
NR_146314.1:n.2684C>T
NR_146315.1:n.2624C>T
NR_146316.1:n.2599C>T
XM_006724360.3:c.1418C>T	XP_006724423.1:p.Pro473Leu
XM_011530485.2:c.2063C>T	XP_011528787.1:p.Pro688Leu
XM_011530486.2:c.2063C>T	XP_011528788.1:p.Pro688Leu
XM_011530487.2:c.2063C>T	XP_011528789.1:p.Pro688Leu
XM_011530488.2:c.2063C>T	XP_011528790.1:p.Pro688Leu
XM_011530489.2:c.2063C>T	XP_011528791.1:p.Pro688Leu
XM_011530490.3:c.2009C>T	XP_011528792.1:p.Pro670Leu
XM_011530491.3:c.2063C>T	XP_011528793.1:p.Pro688Leu
XM_011530492.2:c.2063C>T	XP_011528794.1:p.Pro688Leu
XM_011530493.3:c.1846-4479C>T	XP_011528795.1:n.1846-4479C>T
XM_011530494.2:c.1271C>T	XP_011528796.1:p.Pro424Leu
XM_011530495.2:c.1418C>T	XP_011528797.1:p.Pro473Leu
XM_011530496.2:c.1271C>T	XP_011528798.1:p.Pro424Leu
XM_017029045.2:c.2009C>T	XP_016884534.1:p.Pro670Leu
XM_017029046.2:c.1931C>T	XP_016884535.1:p.Pro644Leu
XM_017029047.2:c.1792-4479C>T	XP_016884536.1:n.1792-4479C>T
XM_017029052.2:c.1523C>T	XP_016884541.1:p.Pro508Leu
XM_017029053.1:c.1508C>T	XP_016884542.1:p.Pro503Leu
XM_017029056.2:c.1136C>T	XP_016884545.1:p.Pro379Leu
XM_017029061.2:c.1136C>T	XP_016884550.1:p.Pro379Leu
XM_017029062.2:c.1136C>T	XP_016884551.1:p.Pro379Leu
XM_017029063.2:c.1136C>T	XP_016884552.1:p.Pro379Leu
XM_017029064.2:c.1136C>T	XP_016884553.1:p.Pro379Leu
XM_024452298.1:c.1304C>T	XP_024308066.1:p.Pro435Leu
XM_024452299.1:c.1136C>T	XP_024308067.1:p.Pro379Leu
XM_024452300.1:c.1136C>T	XP_024308068.1:p.Pro379Leu
XR_001755361.2:n.2639C>T
XR_001755364.1:n.2278-4479C>T
XR_001755366.2:n.3168C>T
XR_002958721.1:n.2500-4479C>T
XR_937947.2:n.2717C>T
NM_001349898.2:c.1931C>T	NP_001336827.1:p.Pro644Leu
NM_001349899.2:c.1931C>T	NP_001336828.1:p.Pro644Leu
NM_001349900.2:c.1985C>T	NP_001336829.1:p.Pro662Leu
NM_001349903.2:c.1714-4479C>T	NP_001336832.1:n.1714-4479C>T
NM_001349904.2:c.1931C>T	NP_001336833.1:p.Pro644Leu
NR_073136.2:n.2186C>T
NR_146311.2:n.2628C>T
NR_146313.2:n.2473C>T
NR_146315.2:n.2544C>T
NM_022081.6:c.1931C>T MANE Select	NP_071364.4:p.Pro644Leu
NR_146316.2:n.2519C>T