Canonical Allele Identifier: CA411024019

Gene: HPS4

Linked Data

• gnomAD v4: 22-26457934-C-A
• MyVariant Identifiers: chr22:g.26853900C>A (hg19) ; chr22:g.26457934C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457934C>A , CM000684.2:g.26457934C>A	GRCh38
NC_000022.10:g.26853900C>A , CM000684.1:g.26853900C>A	GRCh37
NC_000022.9:g.25183900C>A	NCBI36
NG_009763.2:g.30930G>T , LRG_590:g.30930G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000422379.3:c.1934G>T	ENSP00000415081.3:p.Arg645Leu
ENST00000473782.2:c.1880G>T	ENSP00000514223.1:p.Arg627Leu
ENST00000483631.2:c.1085G>T	ENSP00000514228.1:p.Arg362Leu
ENST00000491142.2:c.1880G>T	ENSP00000514221.1:p.Arg627Leu
ENST00000699226.1:n.4806G>T
ENST00000699227.1:c.*1224G>T	ENSP00000514220.1:n.*1224G>T
ENST00000699228.1:n.2430G>T
ENST00000699229.1:n.1297G>T
ENST00000699230.1:n.2603G>T
ENST00000699231.1:n.4892G>T
ENST00000699232.1:n.3236G>T
ENST00000699233.1:n.1751G>T
ENST00000699234.1:c.*1224G>T	ENSP00000514222.1:n.*1224G>T
ENST00000699235.1:c.1085G>T	ENSP00000514224.1:p.Arg362Leu
ENST00000699236.1:c.*1069G>T	ENSP00000514225.1:n.*1069G>T
ENST00000699237.1:c.*1069G>T	ENSP00000514226.1:n.*1069G>T
ENST00000699238.1:c.*1423G>T	ENSP00000514227.1:n.*1423G>T
ENST00000699239.1:n.4634G>T
ENST00000699240.1:c.*1537G>T	ENSP00000514229.1:n.*1537G>T
ENST00000699241.1:c.*2072G>T	ENSP00000514230.1:n.*2072G>T
ENST00000699242.1:c.1790G>T	ENSP00000514231.1:p.Arg597Leu
ENST00000699243.1:c.*1224G>T	ENSP00000514232.1:n.*1224G>T
ENST00000699244.1:c.1733G>T	ENSP00000514233.1:p.Arg578Leu
ENST00000699245.1:n.1172G>T
ENST00000699246.1:c.*1251G>T	ENSP00000514234.1:n.*1251G>T
ENST00000699247.1:c.836G>T	ENSP00000514235.1:p.Arg279Leu
ENST00000699248.1:n.3784-4530G>T
ENST00000699249.1:c.*1058-4530G>T	ENSP00000514236.1:n.*1058-4530G>T
ENST00000699250.1:c.1714-4530G>T	ENSP00000514237.1:n.1714-4530G>T
ENST00000699251.1:c.1880G>T	ENSP00000514238.1:p.Arg627Leu
ENST00000699252.1:n.2430G>T
ENST00000398145.7:c.1880G>T MANE Select	ENSP00000381213.2:p.Arg627Leu
ENST00000336873.9:c.1880G>T	ENSP00000338457.5:p.Arg627Leu
ENST00000398145.6:c.1880G>T	ENSP00000381213.2:p.Arg627Leu
ENST00000402105.7:c.1865G>T	ENSP00000384185.3:p.Arg622Leu
ENST00000429411.5:c.*1452G>T	ENSP00000399705.1:n.*1452G>T
ENST00000439453.5:c.*1398G>T	ENSP00000406764.1:n.*1398G>T
ENST00000464362.5:c.*2211G>T	ENSP00000430291.1:n.*2211G>T
ENST00000466781.5:n.4739G>T
ENST00000485842.5:n.571G>T
ENST00000493455.6:n.443G>T
ENST00000496385.5:n.2480-4530G>T
ENST00000519774.5:n.266G>T
NM_022081.5:c.1880G>T , LRG_590t1:c.1880G>T	NP_071364.4:p.Arg627Leu
NM_152841.2:c.1865G>T , LRG_590t2:c.1865G>T	NP_690054.1:p.Arg622Leu
NR_073135.1:n.2566G>T
NR_073136.1:n.2328G>T
XM_006724353.2:c.1934G>T	XP_006724416.1:p.Arg645Leu
XM_006724354.2:c.1934G>T	XP_006724417.1:p.Arg645Leu
XM_006724360.2:c.1367G>T	XP_006724423.1:p.Arg456Leu
XM_011530485.1:c.2012G>T	XP_011528787.1:p.Arg671Leu
XM_011530486.1:c.2012G>T	XP_011528788.1:p.Arg671Leu
XM_011530487.1:c.2012G>T	XP_011528789.1:p.Arg671Leu
XM_011530488.1:c.2012G>T	XP_011528790.1:p.Arg671Leu
XM_011530489.1:c.2012G>T	XP_011528791.1:p.Arg671Leu
XM_011530490.1:c.1958G>T	XP_011528792.1:p.Arg653Leu
XM_011530491.1:c.2012G>T	XP_011528793.1:p.Arg671Leu
XM_011530492.1:c.2012G>T	XP_011528794.1:p.Arg671Leu
XM_011530493.1:c.1846-4530G>T	XP_011528795.1:n.1846-4530G>T
XM_011530494.1:c.1220G>T	XP_011528796.1:p.Arg407Leu
XM_011530495.1:c.1367G>T	XP_011528797.1:p.Arg456Leu
XM_011530496.1:c.1220G>T	XP_011528798.1:p.Arg407Leu
XR_937947.1:n.2671G>T
NM_001349896.1:c.1880G>T	NP_001336825.1:p.Arg627Leu
NM_001349898.1:c.1880G>T	NP_001336827.1:p.Arg627Leu
NM_001349899.1:c.1880G>T	NP_001336828.1:p.Arg627Leu
NM_001349900.1:c.1934G>T	NP_001336829.1:p.Arg645Leu
NM_001349901.1:c.1934G>T	NP_001336830.1:p.Arg645Leu
NM_001349902.1:c.1714-4530G>T	NP_001336831.1:n.1714-4530G>T
NM_001349903.1:c.1714-4530G>T	NP_001336832.1:n.1714-4530G>T
NM_001349904.1:c.1880G>T	NP_001336833.1:p.Arg627Leu
NM_001349905.1:c.1880G>T	NP_001336834.1:p.Arg627Leu
NR_146311.1:n.2657G>T
NR_146312.1:n.2482G>T
NR_146313.1:n.2502G>T
NR_146314.1:n.2633G>T
NR_146315.1:n.2573G>T
NR_146316.1:n.2548G>T
XM_006724360.3:c.1367G>T	XP_006724423.1:p.Arg456Leu
XM_011530485.2:c.2012G>T	XP_011528787.1:p.Arg671Leu
XM_011530486.2:c.2012G>T	XP_011528788.1:p.Arg671Leu
XM_011530487.2:c.2012G>T	XP_011528789.1:p.Arg671Leu
XM_011530488.2:c.2012G>T	XP_011528790.1:p.Arg671Leu
XM_011530489.2:c.2012G>T	XP_011528791.1:p.Arg671Leu
XM_011530490.3:c.1958G>T	XP_011528792.1:p.Arg653Leu
XM_011530491.3:c.2012G>T	XP_011528793.1:p.Arg671Leu
XM_011530492.2:c.2012G>T	XP_011528794.1:p.Arg671Leu
XM_011530493.3:c.1846-4530G>T	XP_011528795.1:n.1846-4530G>T
XM_011530494.2:c.1220G>T	XP_011528796.1:p.Arg407Leu
XM_011530495.2:c.1367G>T	XP_011528797.1:p.Arg456Leu
XM_011530496.2:c.1220G>T	XP_011528798.1:p.Arg407Leu
XM_017029045.2:c.1958G>T	XP_016884534.1:p.Arg653Leu
XM_017029046.2:c.1880G>T	XP_016884535.1:p.Arg627Leu
XM_017029047.2:c.1792-4530G>T	XP_016884536.1:n.1792-4530G>T
XM_017029052.2:c.1472G>T	XP_016884541.1:p.Arg491Leu
XM_017029053.1:c.1457G>T	XP_016884542.1:p.Arg486Leu
XM_017029056.2:c.1085G>T	XP_016884545.1:p.Arg362Leu
XM_017029061.2:c.1085G>T	XP_016884550.1:p.Arg362Leu
XM_017029062.2:c.1085G>T	XP_016884551.1:p.Arg362Leu
XM_017029063.2:c.1085G>T	XP_016884552.1:p.Arg362Leu
XM_017029064.2:c.1085G>T	XP_016884553.1:p.Arg362Leu
XM_024452298.1:c.1253G>T	XP_024308066.1:p.Arg418Leu
XM_024452299.1:c.1085G>T	XP_024308067.1:p.Arg362Leu
XM_024452300.1:c.1085G>T	XP_024308068.1:p.Arg362Leu
XR_001755361.2:n.2588G>T
XR_001755364.1:n.2278-4530G>T
XR_001755366.2:n.3117G>T
XR_002958721.1:n.2500-4530G>T
XR_937947.2:n.2666G>T
NM_001349898.2:c.1880G>T	NP_001336827.1:p.Arg627Leu
NM_001349899.2:c.1880G>T	NP_001336828.1:p.Arg627Leu
NM_001349900.2:c.1934G>T	NP_001336829.1:p.Arg645Leu
NM_001349903.2:c.1714-4530G>T	NP_001336832.1:n.1714-4530G>T
NM_001349904.2:c.1880G>T	NP_001336833.1:p.Arg627Leu
NR_073136.2:n.2135G>T
NR_146311.2:n.2577G>T
NR_146313.2:n.2422G>T
NR_146315.2:n.2493G>T
NM_022081.6:c.1880G>T MANE Select	NP_071364.4:p.Arg627Leu
NR_146316.2:n.2468G>T