Canonical Allele Identifier: CA411023820

Gene: HPS4

Linked Data

• MyVariant Identifiers: chr22:g.26853854C>G (hg19) ; chr22:g.26457888C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457888C>G , CM000684.2:g.26457888C>G	GRCh38
NC_000022.10:g.26853854C>G , CM000684.1:g.26853854C>G	GRCh37
NC_000022.9:g.25183854C>G	NCBI36
NG_009763.2:g.30976G>C , LRG_590:g.30976G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1980G>C	ENSP00000415081.3:p.Gln660His
ENST00000473782.2:c.1926G>C	ENSP00000514223.1:p.Gln642His
ENST00000483631.2:c.1131G>C	ENSP00000514228.1:p.Gln377His
ENST00000491142.2:c.1926G>C	ENSP00000514221.1:p.Gln642His
ENST00000699226.1:n.4852G>C
ENST00000699227.1:c.*1270G>C	ENSP00000514220.1:n.*1270G>C
ENST00000699228.1:n.2476G>C
ENST00000699229.1:n.1343G>C
ENST00000699230.1:n.2649G>C
ENST00000699231.1:n.4938G>C
ENST00000699232.1:n.3282G>C
ENST00000699233.1:n.1797G>C
ENST00000699234.1:c.*1270G>C	ENSP00000514222.1:n.*1270G>C
ENST00000699235.1:c.1131G>C	ENSP00000514224.1:p.Gln377His
ENST00000699236.1:c.*1115G>C	ENSP00000514225.1:n.*1115G>C
ENST00000699237.1:c.*1115G>C	ENSP00000514226.1:n.*1115G>C
ENST00000699238.1:c.*1469G>C	ENSP00000514227.1:n.*1469G>C
ENST00000699239.1:n.4680G>C
ENST00000699240.1:c.*1583G>C	ENSP00000514229.1:n.*1583G>C
ENST00000699241.1:c.*2118G>C	ENSP00000514230.1:n.*2118G>C
ENST00000699242.1:c.1836G>C	ENSP00000514231.1:p.Gln612His
ENST00000699243.1:c.*1270G>C	ENSP00000514232.1:n.*1270G>C
ENST00000699244.1:c.1779G>C	ENSP00000514233.1:p.Gln593His
ENST00000699245.1:n.1218G>C
ENST00000699246.1:c.*1297G>C	ENSP00000514234.1:n.*1297G>C
ENST00000699247.1:c.882G>C	ENSP00000514235.1:p.Gln294His
ENST00000699248.1:n.3784-4484G>C
ENST00000699249.1:c.*1058-4484G>C	ENSP00000514236.1:n.*1058-4484G>C
ENST00000699250.1:c.1714-4484G>C	ENSP00000514237.1:n.1714-4484G>C
ENST00000699251.1:c.1926G>C	ENSP00000514238.1:p.Gln642His
ENST00000699252.1:n.2476G>C
ENST00000398145.7:c.1926G>C MANE Select	ENSP00000381213.2:p.Gln642His
ENST00000336873.9:c.1926G>C	ENSP00000338457.5:p.Gln642His
ENST00000398145.6:c.1926G>C	ENSP00000381213.2:p.Gln642His
ENST00000402105.7:c.1911G>C	ENSP00000384185.3:p.Gln637His
ENST00000429411.5:c.*1498G>C	ENSP00000399705.1:n.*1498G>C
ENST00000439453.5:c.*1444G>C	ENSP00000406764.1:n.*1444G>C
ENST00000464362.5:c.*2257G>C	ENSP00000430291.1:n.*2257G>C
ENST00000466781.5:n.4785G>C
ENST00000485842.5:n.617G>C
ENST00000493455.6:n.489G>C
ENST00000496385.5:n.2480-4484G>C
ENST00000519774.5:n.312G>C
NM_022081.5:c.1926G>C , LRG_590t1:c.1926G>C	NP_071364.4:p.Gln642His
NM_152841.2:c.1911G>C , LRG_590t2:c.1911G>C	NP_690054.1:p.Gln637His
NR_073135.1:n.2612G>C
NR_073136.1:n.2374G>C
XM_006724353.2:c.1980G>C	XP_006724416.1:p.Gln660His
XM_006724354.2:c.1980G>C	XP_006724417.1:p.Gln660His
XM_006724360.2:c.1413G>C	XP_006724423.1:p.Gln471His
XM_011530485.1:c.2058G>C	XP_011528787.1:p.Gln686His
XM_011530486.1:c.2058G>C	XP_011528788.1:p.Gln686His
XM_011530487.1:c.2058G>C	XP_011528789.1:p.Gln686His
XM_011530488.1:c.2058G>C	XP_011528790.1:p.Gln686His
XM_011530489.1:c.2058G>C	XP_011528791.1:p.Gln686His
XM_011530490.1:c.2004G>C	XP_011528792.1:p.Gln668His
XM_011530491.1:c.2058G>C	XP_011528793.1:p.Gln686His
XM_011530492.1:c.2058G>C	XP_011528794.1:p.Gln686His
XM_011530493.1:c.1846-4484G>C	XP_011528795.1:n.1846-4484G>C
XM_011530494.1:c.1266G>C	XP_011528796.1:p.Gln422His
XM_011530495.1:c.1413G>C	XP_011528797.1:p.Gln471His
XM_011530496.1:c.1266G>C	XP_011528798.1:p.Gln422His
XR_937947.1:n.2717G>C
NM_001349896.1:c.1926G>C	NP_001336825.1:p.Gln642His
NM_001349898.1:c.1926G>C	NP_001336827.1:p.Gln642His
NM_001349899.1:c.1926G>C	NP_001336828.1:p.Gln642His
NM_001349900.1:c.1980G>C	NP_001336829.1:p.Gln660His
NM_001349901.1:c.1980G>C	NP_001336830.1:p.Gln660His
NM_001349902.1:c.1714-4484G>C	NP_001336831.1:n.1714-4484G>C
NM_001349903.1:c.1714-4484G>C	NP_001336832.1:n.1714-4484G>C
NM_001349904.1:c.1926G>C	NP_001336833.1:p.Gln642His
NM_001349905.1:c.1926G>C	NP_001336834.1:p.Gln642His
NR_146311.1:n.2703G>C
NR_146312.1:n.2528G>C
NR_146313.1:n.2548G>C
NR_146314.1:n.2679G>C
NR_146315.1:n.2619G>C
NR_146316.1:n.2594G>C
XM_006724360.3:c.1413G>C	XP_006724423.1:p.Gln471His
XM_011530485.2:c.2058G>C	XP_011528787.1:p.Gln686His
XM_011530486.2:c.2058G>C	XP_011528788.1:p.Gln686His
XM_011530487.2:c.2058G>C	XP_011528789.1:p.Gln686His
XM_011530488.2:c.2058G>C	XP_011528790.1:p.Gln686His
XM_011530489.2:c.2058G>C	XP_011528791.1:p.Gln686His
XM_011530490.3:c.2004G>C	XP_011528792.1:p.Gln668His
XM_011530491.3:c.2058G>C	XP_011528793.1:p.Gln686His
XM_011530492.2:c.2058G>C	XP_011528794.1:p.Gln686His
XM_011530493.3:c.1846-4484G>C	XP_011528795.1:n.1846-4484G>C
XM_011530494.2:c.1266G>C	XP_011528796.1:p.Gln422His
XM_011530495.2:c.1413G>C	XP_011528797.1:p.Gln471His
XM_011530496.2:c.1266G>C	XP_011528798.1:p.Gln422His
XM_017029045.2:c.2004G>C	XP_016884534.1:p.Gln668His
XM_017029046.2:c.1926G>C	XP_016884535.1:p.Gln642His
XM_017029047.2:c.1792-4484G>C	XP_016884536.1:n.1792-4484G>C
XM_017029052.2:c.1518G>C	XP_016884541.1:p.Gln506His
XM_017029053.1:c.1503G>C	XP_016884542.1:p.Gln501His
XM_017029056.2:c.1131G>C	XP_016884545.1:p.Gln377His
XM_017029061.2:c.1131G>C	XP_016884550.1:p.Gln377His
XM_017029062.2:c.1131G>C	XP_016884551.1:p.Gln377His
XM_017029063.2:c.1131G>C	XP_016884552.1:p.Gln377His
XM_017029064.2:c.1131G>C	XP_016884553.1:p.Gln377His
XM_024452298.1:c.1299G>C	XP_024308066.1:p.Gln433His
XM_024452299.1:c.1131G>C	XP_024308067.1:p.Gln377His
XM_024452300.1:c.1131G>C	XP_024308068.1:p.Gln377His
XR_001755361.2:n.2634G>C
XR_001755364.1:n.2278-4484G>C
XR_001755366.2:n.3163G>C
XR_002958721.1:n.2500-4484G>C
XR_937947.2:n.2712G>C
NM_001349898.2:c.1926G>C	NP_001336827.1:p.Gln642His
NM_001349899.2:c.1926G>C	NP_001336828.1:p.Gln642His
NM_001349900.2:c.1980G>C	NP_001336829.1:p.Gln660His
NM_001349903.2:c.1714-4484G>C	NP_001336832.1:n.1714-4484G>C
NM_001349904.2:c.1926G>C	NP_001336833.1:p.Gln642His
NR_073136.2:n.2181G>C
NR_146311.2:n.2623G>C
NR_146313.2:n.2468G>C
NR_146315.2:n.2539G>C
NM_022081.6:c.1926G>C MANE Select	NP_071364.4:p.Gln642His
NR_146316.2:n.2514G>C