Canonical Allele Identifier: CA10163166

Gene: HPS4

Linked Data

• dbSNP Id: rs749034221
• ExAC: 22:26853891 A / C
• gnomAD v2: 22-26853891-A-C
• gnomAD v4: 22-26457925-A-C
• MyVariant Identifiers: chr22:g.26853891A>C (hg19) ; chr22:g.26457925A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457925A>C , CM000684.2:g.26457925A>C	GRCh38
NC_000022.10:g.26853891A>C , CM000684.1:g.26853891A>C	GRCh37
NC_000022.9:g.25183891A>C	NCBI36
NG_009763.2:g.30939T>G , LRG_590:g.30939T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1943T>G	ENSP00000415081.3:p.Leu648Arg
ENST00000473782.2:c.1889T>G	ENSP00000514223.1:p.Leu630Arg
ENST00000483631.2:c.1094T>G	ENSP00000514228.1:p.Leu365Arg
ENST00000491142.2:c.1889T>G	ENSP00000514221.1:p.Leu630Arg
ENST00000699226.1:n.4815T>G
ENST00000699227.1:c.*1233T>G	ENSP00000514220.1:n.*1233T>G
ENST00000699228.1:n.2439T>G
ENST00000699229.1:n.1306T>G
ENST00000699230.1:n.2612T>G
ENST00000699231.1:n.4901T>G
ENST00000699232.1:n.3245T>G
ENST00000699233.1:n.1760T>G
ENST00000699234.1:c.*1233T>G	ENSP00000514222.1:n.*1233T>G
ENST00000699235.1:c.1094T>G	ENSP00000514224.1:p.Leu365Arg
ENST00000699236.1:c.*1078T>G	ENSP00000514225.1:n.*1078T>G
ENST00000699237.1:c.*1078T>G	ENSP00000514226.1:n.*1078T>G
ENST00000699238.1:c.*1432T>G	ENSP00000514227.1:n.*1432T>G
ENST00000699239.1:n.4643T>G
ENST00000699240.1:c.*1546T>G	ENSP00000514229.1:n.*1546T>G
ENST00000699241.1:c.*2081T>G	ENSP00000514230.1:n.*2081T>G
ENST00000699242.1:c.1799T>G	ENSP00000514231.1:p.Leu600Arg
ENST00000699243.1:c.*1233T>G	ENSP00000514232.1:n.*1233T>G
ENST00000699244.1:c.1742T>G	ENSP00000514233.1:p.Leu581Arg
ENST00000699245.1:n.1181T>G
ENST00000699246.1:c.*1260T>G	ENSP00000514234.1:n.*1260T>G
ENST00000699247.1:c.845T>G	ENSP00000514235.1:p.Leu282Arg
ENST00000699248.1:n.3784-4521T>G
ENST00000699249.1:c.*1058-4521T>G	ENSP00000514236.1:n.*1058-4521T>G
ENST00000699250.1:c.1714-4521T>G	ENSP00000514237.1:n.1714-4521T>G
ENST00000699251.1:c.1889T>G	ENSP00000514238.1:p.Leu630Arg
ENST00000699252.1:n.2439T>G
ENST00000398145.7:c.1889T>G MANE Select	ENSP00000381213.2:p.Leu630Arg
ENST00000336873.9:c.1889T>G	ENSP00000338457.5:p.Leu630Arg
ENST00000398145.6:c.1889T>G	ENSP00000381213.2:p.Leu630Arg
ENST00000402105.7:c.1874T>G	ENSP00000384185.3:p.Leu625Arg
ENST00000429411.5:c.*1461T>G	ENSP00000399705.1:n.*1461T>G
ENST00000439453.5:c.*1407T>G	ENSP00000406764.1:n.*1407T>G
ENST00000464362.5:c.*2220T>G	ENSP00000430291.1:n.*2220T>G
ENST00000466781.5:n.4748T>G
ENST00000485842.5:n.580T>G
ENST00000493455.6:n.452T>G
ENST00000496385.5:n.2480-4521T>G
ENST00000519774.5:n.275T>G
NM_022081.5:c.1889T>G , LRG_590t1:c.1889T>G	NP_071364.4:p.Leu630Arg
NM_152841.2:c.1874T>G , LRG_590t2:c.1874T>G	NP_690054.1:p.Leu625Arg
NR_073135.1:n.2575T>G
NR_073136.1:n.2337T>G
XM_006724353.2:c.1943T>G	XP_006724416.1:p.Leu648Arg
XM_006724354.2:c.1943T>G	XP_006724417.1:p.Leu648Arg
XM_006724360.2:c.1376T>G	XP_006724423.1:p.Leu459Arg
XM_011530485.1:c.2021T>G	XP_011528787.1:p.Leu674Arg
XM_011530486.1:c.2021T>G	XP_011528788.1:p.Leu674Arg
XM_011530487.1:c.2021T>G	XP_011528789.1:p.Leu674Arg
XM_011530488.1:c.2021T>G	XP_011528790.1:p.Leu674Arg
XM_011530489.1:c.2021T>G	XP_011528791.1:p.Leu674Arg
XM_011530490.1:c.1967T>G	XP_011528792.1:p.Leu656Arg
XM_011530491.1:c.2021T>G	XP_011528793.1:p.Leu674Arg
XM_011530492.1:c.2021T>G	XP_011528794.1:p.Leu674Arg
XM_011530493.1:c.1846-4521T>G	XP_011528795.1:n.1846-4521T>G
XM_011530494.1:c.1229T>G	XP_011528796.1:p.Leu410Arg
XM_011530495.1:c.1376T>G	XP_011528797.1:p.Leu459Arg
XM_011530496.1:c.1229T>G	XP_011528798.1:p.Leu410Arg
XR_937947.1:n.2680T>G
NM_001349896.1:c.1889T>G	NP_001336825.1:p.Leu630Arg
NM_001349898.1:c.1889T>G	NP_001336827.1:p.Leu630Arg
NM_001349899.1:c.1889T>G	NP_001336828.1:p.Leu630Arg
NM_001349900.1:c.1943T>G	NP_001336829.1:p.Leu648Arg
NM_001349901.1:c.1943T>G	NP_001336830.1:p.Leu648Arg
NM_001349902.1:c.1714-4521T>G	NP_001336831.1:n.1714-4521T>G
NM_001349903.1:c.1714-4521T>G	NP_001336832.1:n.1714-4521T>G
NM_001349904.1:c.1889T>G	NP_001336833.1:p.Leu630Arg
NM_001349905.1:c.1889T>G	NP_001336834.1:p.Leu630Arg
NR_146311.1:n.2666T>G
NR_146312.1:n.2491T>G
NR_146313.1:n.2511T>G
NR_146314.1:n.2642T>G
NR_146315.1:n.2582T>G
NR_146316.1:n.2557T>G
XM_006724360.3:c.1376T>G	XP_006724423.1:p.Leu459Arg
XM_011530485.2:c.2021T>G	XP_011528787.1:p.Leu674Arg
XM_011530486.2:c.2021T>G	XP_011528788.1:p.Leu674Arg
XM_011530487.2:c.2021T>G	XP_011528789.1:p.Leu674Arg
XM_011530488.2:c.2021T>G	XP_011528790.1:p.Leu674Arg
XM_011530489.2:c.2021T>G	XP_011528791.1:p.Leu674Arg
XM_011530490.3:c.1967T>G	XP_011528792.1:p.Leu656Arg
XM_011530491.3:c.2021T>G	XP_011528793.1:p.Leu674Arg
XM_011530492.2:c.2021T>G	XP_011528794.1:p.Leu674Arg
XM_011530493.3:c.1846-4521T>G	XP_011528795.1:n.1846-4521T>G
XM_011530494.2:c.1229T>G	XP_011528796.1:p.Leu410Arg
XM_011530495.2:c.1376T>G	XP_011528797.1:p.Leu459Arg
XM_011530496.2:c.1229T>G	XP_011528798.1:p.Leu410Arg
XM_017029045.2:c.1967T>G	XP_016884534.1:p.Leu656Arg
XM_017029046.2:c.1889T>G	XP_016884535.1:p.Leu630Arg
XM_017029047.2:c.1792-4521T>G	XP_016884536.1:n.1792-4521T>G
XM_017029052.2:c.1481T>G	XP_016884541.1:p.Leu494Arg
XM_017029053.1:c.1466T>G	XP_016884542.1:p.Leu489Arg
XM_017029056.2:c.1094T>G	XP_016884545.1:p.Leu365Arg
XM_017029061.2:c.1094T>G	XP_016884550.1:p.Leu365Arg
XM_017029062.2:c.1094T>G	XP_016884551.1:p.Leu365Arg
XM_017029063.2:c.1094T>G	XP_016884552.1:p.Leu365Arg
XM_017029064.2:c.1094T>G	XP_016884553.1:p.Leu365Arg
XM_024452298.1:c.1262T>G	XP_024308066.1:p.Leu421Arg
XM_024452299.1:c.1094T>G	XP_024308067.1:p.Leu365Arg
XM_024452300.1:c.1094T>G	XP_024308068.1:p.Leu365Arg
XR_001755361.2:n.2597T>G
XR_001755364.1:n.2278-4521T>G
XR_001755366.2:n.3126T>G
XR_002958721.1:n.2500-4521T>G
XR_937947.2:n.2675T>G
NM_001349898.2:c.1889T>G	NP_001336827.1:p.Leu630Arg
NM_001349899.2:c.1889T>G	NP_001336828.1:p.Leu630Arg
NM_001349900.2:c.1943T>G	NP_001336829.1:p.Leu648Arg
NM_001349903.2:c.1714-4521T>G	NP_001336832.1:n.1714-4521T>G
NM_001349904.2:c.1889T>G	NP_001336833.1:p.Leu630Arg
NR_073136.2:n.2144T>G
NR_146311.2:n.2586T>G
NR_146313.2:n.2431T>G
NR_146315.2:n.2502T>G
NM_022081.6:c.1889T>G MANE Select	NP_071364.4:p.Leu630Arg
NR_146316.2:n.2477T>G