Canonical Allele Identifier: CA513920510

Gene: HPS4

Linked Data

• MyVariant Identifiers: chr22:g.26853926C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457960C>A , CM000684.2:g.26457960C>A	GRCh38
NC_000022.10:g.26853926C>A , CM000684.1:g.26853926C>A	GRCh37
NC_000022.9:g.25183926C>A	NCBI36
NG_009763.2:g.30904G>T , LRG_590:g.30904G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1908G>T	ENSP00000415081.3:p.Leu636=
ENST00000473782.2:c.1854G>T	ENSP00000514223.1:p.Leu618=
ENST00000483631.2:c.1059G>T	ENSP00000514228.1:p.Leu353=
ENST00000491142.2:c.1854G>T	ENSP00000514221.1:p.Leu618=
ENST00000699226.1:n.4780G>T
ENST00000699227.1:c.*1198G>T	ENSP00000514220.1:n.*1198G>T
ENST00000699228.1:n.2404G>T
ENST00000699229.1:n.1271G>T
ENST00000699230.1:n.2577G>T
ENST00000699231.1:n.4866G>T
ENST00000699232.1:n.3210G>T
ENST00000699233.1:n.1725G>T
ENST00000699234.1:c.*1198G>T	ENSP00000514222.1:n.*1198G>T
ENST00000699235.1:c.1059G>T	ENSP00000514224.1:p.Leu353=
ENST00000699236.1:c.*1043G>T	ENSP00000514225.1:n.*1043G>T
ENST00000699237.1:c.*1043G>T	ENSP00000514226.1:n.*1043G>T
ENST00000699238.1:c.*1397G>T	ENSP00000514227.1:n.*1397G>T
ENST00000699239.1:n.4608G>T
ENST00000699240.1:c.*1511G>T	ENSP00000514229.1:n.*1511G>T
ENST00000699241.1:c.*2046G>T	ENSP00000514230.1:n.*2046G>T
ENST00000699242.1:c.1764G>T	ENSP00000514231.1:p.Leu588=
ENST00000699243.1:c.*1198G>T	ENSP00000514232.1:n.*1198G>T
ENST00000699244.1:c.1707G>T	ENSP00000514233.1:p.Leu569=
ENST00000699245.1:n.1146G>T
ENST00000699246.1:c.*1225G>T	ENSP00000514234.1:n.*1225G>T
ENST00000699247.1:c.810G>T	ENSP00000514235.1:p.Leu270=
ENST00000699248.1:n.3784-4556G>T
ENST00000699249.1:c.*1058-4556G>T	ENSP00000514236.1:n.*1058-4556G>T
ENST00000699250.1:c.1714-4556G>T	ENSP00000514237.1:n.1714-4556G>T
ENST00000699251.1:c.1854G>T	ENSP00000514238.1:p.Leu618=
ENST00000699252.1:n.2404G>T
ENST00000398145.7:c.1854G>T MANE Select	ENSP00000381213.2:p.Leu618=
ENST00000336873.9:c.1854G>T	ENSP00000338457.5:p.Leu618=
ENST00000398145.6:c.1854G>T	ENSP00000381213.2:p.Leu618=
ENST00000402105.7:c.1839G>T	ENSP00000384185.3:p.Leu613=
ENST00000429411.5:c.*1426G>T	ENSP00000399705.1:n.*1426G>T
ENST00000439453.5:c.*1372G>T	ENSP00000406764.1:n.*1372G>T
ENST00000464362.5:c.*2185G>T	ENSP00000430291.1:n.*2185G>T
ENST00000466781.5:n.4713G>T
ENST00000485842.5:n.545G>T
ENST00000493455.6:n.417G>T
ENST00000496385.5:n.2480-4556G>T
ENST00000519774.5:n.240G>T
NM_022081.5:c.1854G>T , LRG_590t1:c.1854G>T	NP_071364.4:p.Leu618=
NM_152841.2:c.1839G>T , LRG_590t2:c.1839G>T	NP_690054.1:p.Leu613=
NR_073135.1:n.2540G>T
NR_073136.1:n.2302G>T
XM_006724353.2:c.1908G>T	XP_006724416.1:p.Leu636=
XM_006724354.2:c.1908G>T	XP_006724417.1:p.Leu636=
XM_006724360.2:c.1341G>T	XP_006724423.1:p.Leu447=
XM_011530485.1:c.1986G>T	XP_011528787.1:p.Leu662=
XM_011530486.1:c.1986G>T	XP_011528788.1:p.Leu662=
XM_011530487.1:c.1986G>T	XP_011528789.1:p.Leu662=
XM_011530488.1:c.1986G>T	XP_011528790.1:p.Leu662=
XM_011530489.1:c.1986G>T	XP_011528791.1:p.Leu662=
XM_011530490.1:c.1932G>T	XP_011528792.1:p.Leu644=
XM_011530491.1:c.1986G>T	XP_011528793.1:p.Leu662=
XM_011530492.1:c.1986G>T	XP_011528794.1:p.Leu662=
XM_011530493.1:c.1846-4556G>T	XP_011528795.1:n.1846-4556G>T
XM_011530494.1:c.1194G>T	XP_011528796.1:p.Leu398=
XM_011530495.1:c.1341G>T	XP_011528797.1:p.Leu447=
XM_011530496.1:c.1194G>T	XP_011528798.1:p.Leu398=
XR_937947.1:n.2645G>T
NM_001349896.1:c.1854G>T	NP_001336825.1:p.Leu618=
NM_001349898.1:c.1854G>T	NP_001336827.1:p.Leu618=
NM_001349899.1:c.1854G>T	NP_001336828.1:p.Leu618=
NM_001349900.1:c.1908G>T	NP_001336829.1:p.Leu636=
NM_001349901.1:c.1908G>T	NP_001336830.1:p.Leu636=
NM_001349902.1:c.1714-4556G>T	NP_001336831.1:n.1714-4556G>T
NM_001349903.1:c.1714-4556G>T	NP_001336832.1:n.1714-4556G>T
NM_001349904.1:c.1854G>T	NP_001336833.1:p.Leu618=
NM_001349905.1:c.1854G>T	NP_001336834.1:p.Leu618=
NR_146311.1:n.2631G>T
NR_146312.1:n.2456G>T
NR_146313.1:n.2476G>T
NR_146314.1:n.2607G>T
NR_146315.1:n.2547G>T
NR_146316.1:n.2522G>T
XM_006724360.3:c.1341G>T	XP_006724423.1:p.Leu447=
XM_011530485.2:c.1986G>T	XP_011528787.1:p.Leu662=
XM_011530486.2:c.1986G>T	XP_011528788.1:p.Leu662=
XM_011530487.2:c.1986G>T	XP_011528789.1:p.Leu662=
XM_011530488.2:c.1986G>T	XP_011528790.1:p.Leu662=
XM_011530489.2:c.1986G>T	XP_011528791.1:p.Leu662=
XM_011530490.3:c.1932G>T	XP_011528792.1:p.Leu644=
XM_011530491.3:c.1986G>T	XP_011528793.1:p.Leu662=
XM_011530492.2:c.1986G>T	XP_011528794.1:p.Leu662=
XM_011530493.3:c.1846-4556G>T	XP_011528795.1:n.1846-4556G>T
XM_011530494.2:c.1194G>T	XP_011528796.1:p.Leu398=
XM_011530495.2:c.1341G>T	XP_011528797.1:p.Leu447=
XM_011530496.2:c.1194G>T	XP_011528798.1:p.Leu398=
XM_017029045.2:c.1932G>T	XP_016884534.1:p.Leu644=
XM_017029046.2:c.1854G>T	XP_016884535.1:p.Leu618=
XM_017029047.2:c.1792-4556G>T	XP_016884536.1:n.1792-4556G>T
XM_017029052.2:c.1446G>T	XP_016884541.1:p.Leu482=
XM_017029053.1:c.1431G>T	XP_016884542.1:p.Leu477=
XM_017029056.2:c.1059G>T	XP_016884545.1:p.Leu353=
XM_017029061.2:c.1059G>T	XP_016884550.1:p.Leu353=
XM_017029062.2:c.1059G>T	XP_016884551.1:p.Leu353=
XM_017029063.2:c.1059G>T	XP_016884552.1:p.Leu353=
XM_017029064.2:c.1059G>T	XP_016884553.1:p.Leu353=
XM_024452298.1:c.1227G>T	XP_024308066.1:p.Leu409=
XM_024452299.1:c.1059G>T	XP_024308067.1:p.Leu353=
XM_024452300.1:c.1059G>T	XP_024308068.1:p.Leu353=
XR_001755361.2:n.2562G>T
XR_001755364.1:n.2278-4556G>T
XR_001755366.2:n.3091G>T
XR_002958721.1:n.2500-4556G>T
XR_937947.2:n.2640G>T
NM_001349898.2:c.1854G>T	NP_001336827.1:p.Leu618=
NM_001349899.2:c.1854G>T	NP_001336828.1:p.Leu618=
NM_001349900.2:c.1908G>T	NP_001336829.1:p.Leu636=
NM_001349903.2:c.1714-4556G>T	NP_001336832.1:n.1714-4556G>T
NM_001349904.2:c.1854G>T	NP_001336833.1:p.Leu618=
NR_073136.2:n.2109G>T
NR_146311.2:n.2551G>T
NR_146313.2:n.2396G>T
NR_146315.2:n.2467G>T
NM_022081.6:c.1854G>T MANE Select	NP_071364.4:p.Leu618=
NR_146316.2:n.2442G>T