Canonical Allele Identifier: CA411024120

Gene: HPS4

Linked Data

• MyVariant Identifiers: chr22:g.26853927A>C (hg19) ; chr22:g.26457961A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457961A>C , CM000684.2:g.26457961A>C	GRCh38
NC_000022.10:g.26853927A>C , CM000684.1:g.26853927A>C	GRCh37
NC_000022.9:g.25183927A>C	NCBI36
NG_009763.2:g.30903T>G , LRG_590:g.30903T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1907T>G	ENSP00000415081.3:p.Leu636Arg
ENST00000473782.2:c.1853T>G	ENSP00000514223.1:p.Leu618Arg
ENST00000483631.2:c.1058T>G	ENSP00000514228.1:p.Leu353Arg
ENST00000491142.2:c.1853T>G	ENSP00000514221.1:p.Leu618Arg
ENST00000699226.1:n.4779T>G
ENST00000699227.1:c.*1197T>G	ENSP00000514220.1:n.*1197T>G
ENST00000699228.1:n.2403T>G
ENST00000699229.1:n.1270T>G
ENST00000699230.1:n.2576T>G
ENST00000699231.1:n.4865T>G
ENST00000699232.1:n.3209T>G
ENST00000699233.1:n.1724T>G
ENST00000699234.1:c.*1197T>G	ENSP00000514222.1:n.*1197T>G
ENST00000699235.1:c.1058T>G	ENSP00000514224.1:p.Leu353Arg
ENST00000699236.1:c.*1042T>G	ENSP00000514225.1:n.*1042T>G
ENST00000699237.1:c.*1042T>G	ENSP00000514226.1:n.*1042T>G
ENST00000699238.1:c.*1396T>G	ENSP00000514227.1:n.*1396T>G
ENST00000699239.1:n.4607T>G
ENST00000699240.1:c.*1510T>G	ENSP00000514229.1:n.*1510T>G
ENST00000699241.1:c.*2045T>G	ENSP00000514230.1:n.*2045T>G
ENST00000699242.1:c.1763T>G	ENSP00000514231.1:p.Leu588Arg
ENST00000699243.1:c.*1197T>G	ENSP00000514232.1:n.*1197T>G
ENST00000699244.1:c.1706T>G	ENSP00000514233.1:p.Leu569Arg
ENST00000699245.1:n.1145T>G
ENST00000699246.1:c.*1224T>G	ENSP00000514234.1:n.*1224T>G
ENST00000699247.1:c.809T>G	ENSP00000514235.1:p.Leu270Arg
ENST00000699248.1:n.3784-4557T>G
ENST00000699249.1:c.*1058-4557T>G	ENSP00000514236.1:n.*1058-4557T>G
ENST00000699250.1:c.1714-4557T>G	ENSP00000514237.1:n.1714-4557T>G
ENST00000699251.1:c.1853T>G	ENSP00000514238.1:p.Leu618Arg
ENST00000699252.1:n.2403T>G
ENST00000398145.7:c.1853T>G MANE Select	ENSP00000381213.2:p.Leu618Arg
ENST00000336873.9:c.1853T>G	ENSP00000338457.5:p.Leu618Arg
ENST00000398145.6:c.1853T>G	ENSP00000381213.2:p.Leu618Arg
ENST00000402105.7:c.1838T>G	ENSP00000384185.3:p.Leu613Arg
ENST00000429411.5:c.*1425T>G	ENSP00000399705.1:n.*1425T>G
ENST00000439453.5:c.*1371T>G	ENSP00000406764.1:n.*1371T>G
ENST00000464362.5:c.*2184T>G	ENSP00000430291.1:n.*2184T>G
ENST00000466781.5:n.4712T>G
ENST00000485842.5:n.544T>G
ENST00000493455.6:n.416T>G
ENST00000496385.5:n.2480-4557T>G
ENST00000519774.5:n.239T>G
NM_022081.5:c.1853T>G , LRG_590t1:c.1853T>G	NP_071364.4:p.Leu618Arg
NM_152841.2:c.1838T>G , LRG_590t2:c.1838T>G	NP_690054.1:p.Leu613Arg
NR_073135.1:n.2539T>G
NR_073136.1:n.2301T>G
XM_006724353.2:c.1907T>G	XP_006724416.1:p.Leu636Arg
XM_006724354.2:c.1907T>G	XP_006724417.1:p.Leu636Arg
XM_006724360.2:c.1340T>G	XP_006724423.1:p.Leu447Arg
XM_011530485.1:c.1985T>G	XP_011528787.1:p.Leu662Arg
XM_011530486.1:c.1985T>G	XP_011528788.1:p.Leu662Arg
XM_011530487.1:c.1985T>G	XP_011528789.1:p.Leu662Arg
XM_011530488.1:c.1985T>G	XP_011528790.1:p.Leu662Arg
XM_011530489.1:c.1985T>G	XP_011528791.1:p.Leu662Arg
XM_011530490.1:c.1931T>G	XP_011528792.1:p.Leu644Arg
XM_011530491.1:c.1985T>G	XP_011528793.1:p.Leu662Arg
XM_011530492.1:c.1985T>G	XP_011528794.1:p.Leu662Arg
XM_011530493.1:c.1846-4557T>G	XP_011528795.1:n.1846-4557T>G
XM_011530494.1:c.1193T>G	XP_011528796.1:p.Leu398Arg
XM_011530495.1:c.1340T>G	XP_011528797.1:p.Leu447Arg
XM_011530496.1:c.1193T>G	XP_011528798.1:p.Leu398Arg
XR_937947.1:n.2644T>G
NM_001349896.1:c.1853T>G	NP_001336825.1:p.Leu618Arg
NM_001349898.1:c.1853T>G	NP_001336827.1:p.Leu618Arg
NM_001349899.1:c.1853T>G	NP_001336828.1:p.Leu618Arg
NM_001349900.1:c.1907T>G	NP_001336829.1:p.Leu636Arg
NM_001349901.1:c.1907T>G	NP_001336830.1:p.Leu636Arg
NM_001349902.1:c.1714-4557T>G	NP_001336831.1:n.1714-4557T>G
NM_001349903.1:c.1714-4557T>G	NP_001336832.1:n.1714-4557T>G
NM_001349904.1:c.1853T>G	NP_001336833.1:p.Leu618Arg
NM_001349905.1:c.1853T>G	NP_001336834.1:p.Leu618Arg
NR_146311.1:n.2630T>G
NR_146312.1:n.2455T>G
NR_146313.1:n.2475T>G
NR_146314.1:n.2606T>G
NR_146315.1:n.2546T>G
NR_146316.1:n.2521T>G
XM_006724360.3:c.1340T>G	XP_006724423.1:p.Leu447Arg
XM_011530485.2:c.1985T>G	XP_011528787.1:p.Leu662Arg
XM_011530486.2:c.1985T>G	XP_011528788.1:p.Leu662Arg
XM_011530487.2:c.1985T>G	XP_011528789.1:p.Leu662Arg
XM_011530488.2:c.1985T>G	XP_011528790.1:p.Leu662Arg
XM_011530489.2:c.1985T>G	XP_011528791.1:p.Leu662Arg
XM_011530490.3:c.1931T>G	XP_011528792.1:p.Leu644Arg
XM_011530491.3:c.1985T>G	XP_011528793.1:p.Leu662Arg
XM_011530492.2:c.1985T>G	XP_011528794.1:p.Leu662Arg
XM_011530493.3:c.1846-4557T>G	XP_011528795.1:n.1846-4557T>G
XM_011530494.2:c.1193T>G	XP_011528796.1:p.Leu398Arg
XM_011530495.2:c.1340T>G	XP_011528797.1:p.Leu447Arg
XM_011530496.2:c.1193T>G	XP_011528798.1:p.Leu398Arg
XM_017029045.2:c.1931T>G	XP_016884534.1:p.Leu644Arg
XM_017029046.2:c.1853T>G	XP_016884535.1:p.Leu618Arg
XM_017029047.2:c.1792-4557T>G	XP_016884536.1:n.1792-4557T>G
XM_017029052.2:c.1445T>G	XP_016884541.1:p.Leu482Arg
XM_017029053.1:c.1430T>G	XP_016884542.1:p.Leu477Arg
XM_017029056.2:c.1058T>G	XP_016884545.1:p.Leu353Arg
XM_017029061.2:c.1058T>G	XP_016884550.1:p.Leu353Arg
XM_017029062.2:c.1058T>G	XP_016884551.1:p.Leu353Arg
XM_017029063.2:c.1058T>G	XP_016884552.1:p.Leu353Arg
XM_017029064.2:c.1058T>G	XP_016884553.1:p.Leu353Arg
XM_024452298.1:c.1226T>G	XP_024308066.1:p.Leu409Arg
XM_024452299.1:c.1058T>G	XP_024308067.1:p.Leu353Arg
XM_024452300.1:c.1058T>G	XP_024308068.1:p.Leu353Arg
XR_001755361.2:n.2561T>G
XR_001755364.1:n.2278-4557T>G
XR_001755366.2:n.3090T>G
XR_002958721.1:n.2500-4557T>G
XR_937947.2:n.2639T>G
NM_001349898.2:c.1853T>G	NP_001336827.1:p.Leu618Arg
NM_001349899.2:c.1853T>G	NP_001336828.1:p.Leu618Arg
NM_001349900.2:c.1907T>G	NP_001336829.1:p.Leu636Arg
NM_001349903.2:c.1714-4557T>G	NP_001336832.1:n.1714-4557T>G
NM_001349904.2:c.1853T>G	NP_001336833.1:p.Leu618Arg
NR_073136.2:n.2108T>G
NR_146311.2:n.2550T>G
NR_146313.2:n.2395T>G
NR_146315.2:n.2466T>G
NM_022081.6:c.1853T>G MANE Select	NP_071364.4:p.Leu618Arg
NR_146316.2:n.2441T>G