Canonical Allele Identifier: CA411023862

Gene: HPS4

Linked Data

• MyVariant Identifiers: chr22:g.26853863T>G (hg19) ; chr22:g.26457897T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457897T>G , CM000684.2:g.26457897T>G	GRCh38
NC_000022.10:g.26853863T>G , CM000684.1:g.26853863T>G	GRCh37
NC_000022.9:g.25183863T>G	NCBI36
NG_009763.2:g.30967A>C , LRG_590:g.30967A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1971A>C	ENSP00000415081.3:p.Glu657Asp
ENST00000473782.2:c.1917A>C	ENSP00000514223.1:p.Glu639Asp
ENST00000483631.2:c.1122A>C	ENSP00000514228.1:p.Glu374Asp
ENST00000491142.2:c.1917A>C	ENSP00000514221.1:p.Glu639Asp
ENST00000699226.1:n.4843A>C
ENST00000699227.1:c.*1261A>C	ENSP00000514220.1:n.*1261A>C
ENST00000699228.1:n.2467A>C
ENST00000699229.1:n.1334A>C
ENST00000699230.1:n.2640A>C
ENST00000699231.1:n.4929A>C
ENST00000699232.1:n.3273A>C
ENST00000699233.1:n.1788A>C
ENST00000699234.1:c.*1261A>C	ENSP00000514222.1:n.*1261A>C
ENST00000699235.1:c.1122A>C	ENSP00000514224.1:p.Glu374Asp
ENST00000699236.1:c.*1106A>C	ENSP00000514225.1:n.*1106A>C
ENST00000699237.1:c.*1106A>C	ENSP00000514226.1:n.*1106A>C
ENST00000699238.1:c.*1460A>C	ENSP00000514227.1:n.*1460A>C
ENST00000699239.1:n.4671A>C
ENST00000699240.1:c.*1574A>C	ENSP00000514229.1:n.*1574A>C
ENST00000699241.1:c.*2109A>C	ENSP00000514230.1:n.*2109A>C
ENST00000699242.1:c.1827A>C	ENSP00000514231.1:p.Glu609Asp
ENST00000699243.1:c.*1261A>C	ENSP00000514232.1:n.*1261A>C
ENST00000699244.1:c.1770A>C	ENSP00000514233.1:p.Glu590Asp
ENST00000699245.1:n.1209A>C
ENST00000699246.1:c.*1288A>C	ENSP00000514234.1:n.*1288A>C
ENST00000699247.1:c.873A>C	ENSP00000514235.1:p.Glu291Asp
ENST00000699248.1:n.3784-4493A>C
ENST00000699249.1:c.*1058-4493A>C	ENSP00000514236.1:n.*1058-4493A>C
ENST00000699250.1:c.1714-4493A>C	ENSP00000514237.1:n.1714-4493A>C
ENST00000699251.1:c.1917A>C	ENSP00000514238.1:p.Glu639Asp
ENST00000699252.1:n.2467A>C
ENST00000398145.7:c.1917A>C MANE Select	ENSP00000381213.2:p.Glu639Asp
ENST00000336873.9:c.1917A>C	ENSP00000338457.5:p.Glu639Asp
ENST00000398145.6:c.1917A>C	ENSP00000381213.2:p.Glu639Asp
ENST00000402105.7:c.1902A>C	ENSP00000384185.3:p.Glu634Asp
ENST00000429411.5:c.*1489A>C	ENSP00000399705.1:n.*1489A>C
ENST00000439453.5:c.*1435A>C	ENSP00000406764.1:n.*1435A>C
ENST00000464362.5:c.*2248A>C	ENSP00000430291.1:n.*2248A>C
ENST00000466781.5:n.4776A>C
ENST00000485842.5:n.608A>C
ENST00000493455.6:n.480A>C
ENST00000496385.5:n.2480-4493A>C
ENST00000519774.5:n.303A>C
NM_022081.5:c.1917A>C , LRG_590t1:c.1917A>C	NP_071364.4:p.Glu639Asp
NM_152841.2:c.1902A>C , LRG_590t2:c.1902A>C	NP_690054.1:p.Glu634Asp
NR_073135.1:n.2603A>C
NR_073136.1:n.2365A>C
XM_006724353.2:c.1971A>C	XP_006724416.1:p.Glu657Asp
XM_006724354.2:c.1971A>C	XP_006724417.1:p.Glu657Asp
XM_006724360.2:c.1404A>C	XP_006724423.1:p.Glu468Asp
XM_011530485.1:c.2049A>C	XP_011528787.1:p.Glu683Asp
XM_011530486.1:c.2049A>C	XP_011528788.1:p.Glu683Asp
XM_011530487.1:c.2049A>C	XP_011528789.1:p.Glu683Asp
XM_011530488.1:c.2049A>C	XP_011528790.1:p.Glu683Asp
XM_011530489.1:c.2049A>C	XP_011528791.1:p.Glu683Asp
XM_011530490.1:c.1995A>C	XP_011528792.1:p.Glu665Asp
XM_011530491.1:c.2049A>C	XP_011528793.1:p.Glu683Asp
XM_011530492.1:c.2049A>C	XP_011528794.1:p.Glu683Asp
XM_011530493.1:c.1846-4493A>C	XP_011528795.1:n.1846-4493A>C
XM_011530494.1:c.1257A>C	XP_011528796.1:p.Glu419Asp
XM_011530495.1:c.1404A>C	XP_011528797.1:p.Glu468Asp
XM_011530496.1:c.1257A>C	XP_011528798.1:p.Glu419Asp
XR_937947.1:n.2708A>C
NM_001349896.1:c.1917A>C	NP_001336825.1:p.Glu639Asp
NM_001349898.1:c.1917A>C	NP_001336827.1:p.Glu639Asp
NM_001349899.1:c.1917A>C	NP_001336828.1:p.Glu639Asp
NM_001349900.1:c.1971A>C	NP_001336829.1:p.Glu657Asp
NM_001349901.1:c.1971A>C	NP_001336830.1:p.Glu657Asp
NM_001349902.1:c.1714-4493A>C	NP_001336831.1:n.1714-4493A>C
NM_001349903.1:c.1714-4493A>C	NP_001336832.1:n.1714-4493A>C
NM_001349904.1:c.1917A>C	NP_001336833.1:p.Glu639Asp
NM_001349905.1:c.1917A>C	NP_001336834.1:p.Glu639Asp
NR_146311.1:n.2694A>C
NR_146312.1:n.2519A>C
NR_146313.1:n.2539A>C
NR_146314.1:n.2670A>C
NR_146315.1:n.2610A>C
NR_146316.1:n.2585A>C
XM_006724360.3:c.1404A>C	XP_006724423.1:p.Glu468Asp
XM_011530485.2:c.2049A>C	XP_011528787.1:p.Glu683Asp
XM_011530486.2:c.2049A>C	XP_011528788.1:p.Glu683Asp
XM_011530487.2:c.2049A>C	XP_011528789.1:p.Glu683Asp
XM_011530488.2:c.2049A>C	XP_011528790.1:p.Glu683Asp
XM_011530489.2:c.2049A>C	XP_011528791.1:p.Glu683Asp
XM_011530490.3:c.1995A>C	XP_011528792.1:p.Glu665Asp
XM_011530491.3:c.2049A>C	XP_011528793.1:p.Glu683Asp
XM_011530492.2:c.2049A>C	XP_011528794.1:p.Glu683Asp
XM_011530493.3:c.1846-4493A>C	XP_011528795.1:n.1846-4493A>C
XM_011530494.2:c.1257A>C	XP_011528796.1:p.Glu419Asp
XM_011530495.2:c.1404A>C	XP_011528797.1:p.Glu468Asp
XM_011530496.2:c.1257A>C	XP_011528798.1:p.Glu419Asp
XM_017029045.2:c.1995A>C	XP_016884534.1:p.Glu665Asp
XM_017029046.2:c.1917A>C	XP_016884535.1:p.Glu639Asp
XM_017029047.2:c.1792-4493A>C	XP_016884536.1:n.1792-4493A>C
XM_017029052.2:c.1509A>C	XP_016884541.1:p.Glu503Asp
XM_017029053.1:c.1494A>C	XP_016884542.1:p.Glu498Asp
XM_017029056.2:c.1122A>C	XP_016884545.1:p.Glu374Asp
XM_017029061.2:c.1122A>C	XP_016884550.1:p.Glu374Asp
XM_017029062.2:c.1122A>C	XP_016884551.1:p.Glu374Asp
XM_017029063.2:c.1122A>C	XP_016884552.1:p.Glu374Asp
XM_017029064.2:c.1122A>C	XP_016884553.1:p.Glu374Asp
XM_024452298.1:c.1290A>C	XP_024308066.1:p.Glu430Asp
XM_024452299.1:c.1122A>C	XP_024308067.1:p.Glu374Asp
XM_024452300.1:c.1122A>C	XP_024308068.1:p.Glu374Asp
XR_001755361.2:n.2625A>C
XR_001755364.1:n.2278-4493A>C
XR_001755366.2:n.3154A>C
XR_002958721.1:n.2500-4493A>C
XR_937947.2:n.2703A>C
NM_001349898.2:c.1917A>C	NP_001336827.1:p.Glu639Asp
NM_001349899.2:c.1917A>C	NP_001336828.1:p.Glu639Asp
NM_001349900.2:c.1971A>C	NP_001336829.1:p.Glu657Asp
NM_001349903.2:c.1714-4493A>C	NP_001336832.1:n.1714-4493A>C
NM_001349904.2:c.1917A>C	NP_001336833.1:p.Glu639Asp
NR_073136.2:n.2172A>C
NR_146311.2:n.2614A>C
NR_146313.2:n.2459A>C
NR_146315.2:n.2530A>C
NM_022081.6:c.1917A>C MANE Select	NP_071364.4:p.Glu639Asp
NR_146316.2:n.2505A>C