Canonical Allele Identifier: CA513920488

Gene: HPS4

Linked Data

• COSMIC: COSM5447459 ; COSM5447460
• MyVariant Identifiers: chr22:g.26853920C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457954C>T , CM000684.2:g.26457954C>T	GRCh38
NC_000022.10:g.26853920C>T , CM000684.1:g.26853920C>T	GRCh37
NC_000022.9:g.25183920C>T	NCBI36
NG_009763.2:g.30910G>A , LRG_590:g.30910G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1914G>A	ENSP00000415081.3:p.Gln638=
ENST00000473782.2:c.1860G>A	ENSP00000514223.1:p.Gln620=
ENST00000483631.2:c.1065G>A	ENSP00000514228.1:p.Gln355=
ENST00000491142.2:c.1860G>A	ENSP00000514221.1:p.Gln620=
ENST00000699226.1:n.4786G>A
ENST00000699227.1:c.*1204G>A	ENSP00000514220.1:n.*1204G>A
ENST00000699228.1:n.2410G>A
ENST00000699229.1:n.1277G>A
ENST00000699230.1:n.2583G>A
ENST00000699231.1:n.4872G>A
ENST00000699232.1:n.3216G>A
ENST00000699233.1:n.1731G>A
ENST00000699234.1:c.*1204G>A	ENSP00000514222.1:n.*1204G>A
ENST00000699235.1:c.1065G>A	ENSP00000514224.1:p.Gln355=
ENST00000699236.1:c.*1049G>A	ENSP00000514225.1:n.*1049G>A
ENST00000699237.1:c.*1049G>A	ENSP00000514226.1:n.*1049G>A
ENST00000699238.1:c.*1403G>A	ENSP00000514227.1:n.*1403G>A
ENST00000699239.1:n.4614G>A
ENST00000699240.1:c.*1517G>A	ENSP00000514229.1:n.*1517G>A
ENST00000699241.1:c.*2052G>A	ENSP00000514230.1:n.*2052G>A
ENST00000699242.1:c.1770G>A	ENSP00000514231.1:p.Gln590=
ENST00000699243.1:c.*1204G>A	ENSP00000514232.1:n.*1204G>A
ENST00000699244.1:c.1713G>A	ENSP00000514233.1:p.Gln571=
ENST00000699245.1:n.1152G>A
ENST00000699246.1:c.*1231G>A	ENSP00000514234.1:n.*1231G>A
ENST00000699247.1:c.816G>A	ENSP00000514235.1:p.Gln272=
ENST00000699248.1:n.3784-4550G>A
ENST00000699249.1:c.*1058-4550G>A	ENSP00000514236.1:n.*1058-4550G>A
ENST00000699250.1:c.1714-4550G>A	ENSP00000514237.1:n.1714-4550G>A
ENST00000699251.1:c.1860G>A	ENSP00000514238.1:p.Gln620=
ENST00000699252.1:n.2410G>A
ENST00000398145.7:c.1860G>A MANE Select	ENSP00000381213.2:p.Gln620=
ENST00000336873.9:c.1860G>A	ENSP00000338457.5:p.Gln620=
ENST00000398145.6:c.1860G>A	ENSP00000381213.2:p.Gln620=
ENST00000402105.7:c.1845G>A	ENSP00000384185.3:p.Gln615=
ENST00000429411.5:c.*1432G>A	ENSP00000399705.1:n.*1432G>A
ENST00000439453.5:c.*1378G>A	ENSP00000406764.1:n.*1378G>A
ENST00000464362.5:c.*2191G>A	ENSP00000430291.1:n.*2191G>A
ENST00000466781.5:n.4719G>A
ENST00000485842.5:n.551G>A
ENST00000493455.6:n.423G>A
ENST00000496385.5:n.2480-4550G>A
ENST00000519774.5:n.246G>A
NM_022081.5:c.1860G>A , LRG_590t1:c.1860G>A	NP_071364.4:p.Gln620=
NM_152841.2:c.1845G>A , LRG_590t2:c.1845G>A	NP_690054.1:p.Gln615=
NR_073135.1:n.2546G>A
NR_073136.1:n.2308G>A
XM_006724353.2:c.1914G>A	XP_006724416.1:p.Gln638=
XM_006724354.2:c.1914G>A	XP_006724417.1:p.Gln638=
XM_006724360.2:c.1347G>A	XP_006724423.1:p.Gln449=
XM_011530485.1:c.1992G>A	XP_011528787.1:p.Gln664=
XM_011530486.1:c.1992G>A	XP_011528788.1:p.Gln664=
XM_011530487.1:c.1992G>A	XP_011528789.1:p.Gln664=
XM_011530488.1:c.1992G>A	XP_011528790.1:p.Gln664=
XM_011530489.1:c.1992G>A	XP_011528791.1:p.Gln664=
XM_011530490.1:c.1938G>A	XP_011528792.1:p.Gln646=
XM_011530491.1:c.1992G>A	XP_011528793.1:p.Gln664=
XM_011530492.1:c.1992G>A	XP_011528794.1:p.Gln664=
XM_011530493.1:c.1846-4550G>A	XP_011528795.1:n.1846-4550G>A
XM_011530494.1:c.1200G>A	XP_011528796.1:p.Gln400=
XM_011530495.1:c.1347G>A	XP_011528797.1:p.Gln449=
XM_011530496.1:c.1200G>A	XP_011528798.1:p.Gln400=
XR_937947.1:n.2651G>A
NM_001349896.1:c.1860G>A	NP_001336825.1:p.Gln620=
NM_001349898.1:c.1860G>A	NP_001336827.1:p.Gln620=
NM_001349899.1:c.1860G>A	NP_001336828.1:p.Gln620=
NM_001349900.1:c.1914G>A	NP_001336829.1:p.Gln638=
NM_001349901.1:c.1914G>A	NP_001336830.1:p.Gln638=
NM_001349902.1:c.1714-4550G>A	NP_001336831.1:n.1714-4550G>A
NM_001349903.1:c.1714-4550G>A	NP_001336832.1:n.1714-4550G>A
NM_001349904.1:c.1860G>A	NP_001336833.1:p.Gln620=
NM_001349905.1:c.1860G>A	NP_001336834.1:p.Gln620=
NR_146311.1:n.2637G>A
NR_146312.1:n.2462G>A
NR_146313.1:n.2482G>A
NR_146314.1:n.2613G>A
NR_146315.1:n.2553G>A
NR_146316.1:n.2528G>A
XM_006724360.3:c.1347G>A	XP_006724423.1:p.Gln449=
XM_011530485.2:c.1992G>A	XP_011528787.1:p.Gln664=
XM_011530486.2:c.1992G>A	XP_011528788.1:p.Gln664=
XM_011530487.2:c.1992G>A	XP_011528789.1:p.Gln664=
XM_011530488.2:c.1992G>A	XP_011528790.1:p.Gln664=
XM_011530489.2:c.1992G>A	XP_011528791.1:p.Gln664=
XM_011530490.3:c.1938G>A	XP_011528792.1:p.Gln646=
XM_011530491.3:c.1992G>A	XP_011528793.1:p.Gln664=
XM_011530492.2:c.1992G>A	XP_011528794.1:p.Gln664=
XM_011530493.3:c.1846-4550G>A	XP_011528795.1:n.1846-4550G>A
XM_011530494.2:c.1200G>A	XP_011528796.1:p.Gln400=
XM_011530495.2:c.1347G>A	XP_011528797.1:p.Gln449=
XM_011530496.2:c.1200G>A	XP_011528798.1:p.Gln400=
XM_017029045.2:c.1938G>A	XP_016884534.1:p.Gln646=
XM_017029046.2:c.1860G>A	XP_016884535.1:p.Gln620=
XM_017029047.2:c.1792-4550G>A	XP_016884536.1:n.1792-4550G>A
XM_017029052.2:c.1452G>A	XP_016884541.1:p.Gln484=
XM_017029053.1:c.1437G>A	XP_016884542.1:p.Gln479=
XM_017029056.2:c.1065G>A	XP_016884545.1:p.Gln355=
XM_017029061.2:c.1065G>A	XP_016884550.1:p.Gln355=
XM_017029062.2:c.1065G>A	XP_016884551.1:p.Gln355=
XM_017029063.2:c.1065G>A	XP_016884552.1:p.Gln355=
XM_017029064.2:c.1065G>A	XP_016884553.1:p.Gln355=
XM_024452298.1:c.1233G>A	XP_024308066.1:p.Gln411=
XM_024452299.1:c.1065G>A	XP_024308067.1:p.Gln355=
XM_024452300.1:c.1065G>A	XP_024308068.1:p.Gln355=
XR_001755361.2:n.2568G>A
XR_001755364.1:n.2278-4550G>A
XR_001755366.2:n.3097G>A
XR_002958721.1:n.2500-4550G>A
XR_937947.2:n.2646G>A
NM_001349898.2:c.1860G>A	NP_001336827.1:p.Gln620=
NM_001349899.2:c.1860G>A	NP_001336828.1:p.Gln620=
NM_001349900.2:c.1914G>A	NP_001336829.1:p.Gln638=
NM_001349903.2:c.1714-4550G>A	NP_001336832.1:n.1714-4550G>A
NM_001349904.2:c.1860G>A	NP_001336833.1:p.Gln620=
NR_073136.2:n.2115G>A
NR_146311.2:n.2557G>A
NR_146313.2:n.2402G>A
NR_146315.2:n.2473G>A
NM_022081.6:c.1860G>A MANE Select	NP_071364.4:p.Gln620=
NR_146316.2:n.2448G>A