Canonical Allele Identifier: CA514164241

Gene: HPS4

Linked Data

• MyVariant Identifiers: chr22:g.26860180A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26464214A>G , CM000684.2:g.26464214A>G	GRCh38
NC_000022.10:g.26860180A>G , CM000684.1:g.26860180A>G	GRCh37
NC_000022.9:g.25190180A>G	NCBI36
NG_009763.2:g.24650T>C , LRG_590:g.24650T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1470T>C	ENSP00000415081.3:p.Pro490=
ENST00000473782.2:c.1416T>C	ENSP00000514223.1:p.Pro472=
ENST00000483631.2:c.621T>C	ENSP00000514228.1:p.Pro207=
ENST00000491142.2:c.1416T>C	ENSP00000514221.1:p.Pro472=
ENST00000699226.1:n.4342T>C
ENST00000699227.1:c.*760T>C	ENSP00000514220.1:n.*760T>C
ENST00000699228.1:n.1966T>C
ENST00000699229.1:n.833T>C
ENST00000699230.1:n.2139T>C
ENST00000699231.1:n.4428T>C
ENST00000699232.1:n.2772T>C
ENST00000699233.1:n.1287T>C
ENST00000699234.1:c.*760T>C	ENSP00000514222.1:n.*760T>C
ENST00000699235.1:c.621T>C	ENSP00000514224.1:p.Pro207=
ENST00000699236.1:c.*605T>C	ENSP00000514225.1:n.*605T>C
ENST00000699237.1:c.*605T>C	ENSP00000514226.1:n.*605T>C
ENST00000699238.1:c.*959T>C	ENSP00000514227.1:n.*959T>C
ENST00000699239.1:n.4170T>C
ENST00000699240.1:c.*1073T>C	ENSP00000514229.1:n.*1073T>C
ENST00000699241.1:c.*1608T>C	ENSP00000514230.1:n.*1608T>C
ENST00000699242.1:c.1326T>C	ENSP00000514231.1:p.Pro442=
ENST00000699243.1:c.*760T>C	ENSP00000514232.1:n.*760T>C
ENST00000699244.1:c.1269T>C	ENSP00000514233.1:p.Pro423=
ENST00000699246.1:c.*787T>C	ENSP00000514234.1:n.*787T>C
ENST00000699247.1:c.669+4337T>C	ENSP00000514235.1:n.669+4337T>C
ENST00000699248.1:n.3486T>C
ENST00000699249.1:c.*760T>C	ENSP00000514236.1:n.*760T>C
ENST00000699250.1:c.1416T>C	ENSP00000514237.1:p.Pro472=
ENST00000699251.1:c.1416T>C	ENSP00000514238.1:p.Pro472=
ENST00000699252.1:n.1966T>C
ENST00000398145.7:c.1416T>C MANE Select	ENSP00000381213.2:p.Pro472=
ENST00000336873.9:c.1416T>C	ENSP00000338457.5:p.Pro472=
ENST00000398145.6:c.1416T>C	ENSP00000381213.2:p.Pro472=
ENST00000402105.7:c.1401T>C	ENSP00000384185.3:p.Pro467=
ENST00000429411.5:c.*988T>C	ENSP00000399705.1:n.*988T>C
ENST00000439453.5:c.*934T>C	ENSP00000406764.1:n.*934T>C
ENST00000464362.5:c.*1747T>C	ENSP00000430291.1:n.*1747T>C
ENST00000466781.5:n.4275T>C
ENST00000485842.5:n.404+4337T>C
ENST00000496385.5:n.2182T>C
NM_022081.5:c.1416T>C , LRG_590t1:c.1416T>C	NP_071364.4:p.Pro472=
NM_152841.2:c.1401T>C , LRG_590t2:c.1401T>C	NP_690054.1:p.Pro467=
NR_073135.1:n.2102T>C
NR_073136.1:n.1864T>C
XM_006724353.2:c.1470T>C	XP_006724416.1:p.Pro490=
XM_006724354.2:c.1470T>C	XP_006724417.1:p.Pro490=
XM_006724360.2:c.903T>C	XP_006724423.1:p.Pro301=
XM_011530485.1:c.1548T>C	XP_011528787.1:p.Pro516=
XM_011530486.1:c.1548T>C	XP_011528788.1:p.Pro516=
XM_011530487.1:c.1548T>C	XP_011528789.1:p.Pro516=
XM_011530488.1:c.1548T>C	XP_011528790.1:p.Pro516=
XM_011530489.1:c.1548T>C	XP_011528791.1:p.Pro516=
XM_011530490.1:c.1494T>C	XP_011528792.1:p.Pro498=
XM_011530491.1:c.1548T>C	XP_011528793.1:p.Pro516=
XM_011530492.1:c.1548T>C	XP_011528794.1:p.Pro516=
XM_011530493.1:c.1548T>C	XP_011528795.1:p.Pro516=
XM_011530494.1:c.756T>C	XP_011528796.1:p.Pro252=
XM_011530495.1:c.903T>C	XP_011528797.1:p.Pro301=
XM_011530496.1:c.756T>C	XP_011528798.1:p.Pro252=
XR_937947.1:n.2207T>C
NM_001349896.1:c.1416T>C	NP_001336825.1:p.Pro472=
NM_001349898.1:c.1416T>C	NP_001336827.1:p.Pro472=
NM_001349899.1:c.1416T>C	NP_001336828.1:p.Pro472=
NM_001349900.1:c.1470T>C	NP_001336829.1:p.Pro490=
NM_001349901.1:c.1470T>C	NP_001336830.1:p.Pro490=
NM_001349902.1:c.1416T>C	NP_001336831.1:p.Pro472=
NM_001349903.1:c.1416T>C	NP_001336832.1:p.Pro472=
NM_001349904.1:c.1416T>C	NP_001336833.1:p.Pro472=
NM_001349905.1:c.1416T>C	NP_001336834.1:p.Pro472=
NR_146311.1:n.2193T>C
NR_146312.1:n.2018T>C
NR_146313.1:n.2038T>C
NR_146314.1:n.2169T>C
NR_146315.1:n.2109T>C
NR_146316.1:n.2084T>C
XM_006724360.3:c.903T>C	XP_006724423.1:p.Pro301=
XM_011530485.2:c.1548T>C	XP_011528787.1:p.Pro516=
XM_011530486.2:c.1548T>C	XP_011528788.1:p.Pro516=
XM_011530487.2:c.1548T>C	XP_011528789.1:p.Pro516=
XM_011530488.2:c.1548T>C	XP_011528790.1:p.Pro516=
XM_011530489.2:c.1548T>C	XP_011528791.1:p.Pro516=
XM_011530490.3:c.1494T>C	XP_011528792.1:p.Pro498=
XM_011530491.3:c.1548T>C	XP_011528793.1:p.Pro516=
XM_011530492.2:c.1548T>C	XP_011528794.1:p.Pro516=
XM_011530493.3:c.1548T>C	XP_011528795.1:p.Pro516=
XM_011530494.2:c.756T>C	XP_011528796.1:p.Pro252=
XM_011530495.2:c.903T>C	XP_011528797.1:p.Pro301=
XM_011530496.2:c.756T>C	XP_011528798.1:p.Pro252=
XM_017029045.2:c.1494T>C	XP_016884534.1:p.Pro498=
XM_017029046.2:c.1416T>C	XP_016884535.1:p.Pro472=
XM_017029047.2:c.1494T>C	XP_016884536.1:p.Pro498=
XM_017029052.2:c.1008T>C	XP_016884541.1:p.Pro336=
XM_017029053.1:c.993T>C	XP_016884542.1:p.Pro331=
XM_017029056.2:c.621T>C	XP_016884545.1:p.Pro207=
XM_017029061.2:c.621T>C	XP_016884550.1:p.Pro207=
XM_017029062.2:c.621T>C	XP_016884551.1:p.Pro207=
XM_017029063.2:c.621T>C	XP_016884552.1:p.Pro207=
XM_017029064.2:c.621T>C	XP_016884553.1:p.Pro207=
XM_024452298.1:c.789T>C	XP_024308066.1:p.Pro263=
XM_024452299.1:c.621T>C	XP_024308067.1:p.Pro207=
XM_024452300.1:c.621T>C	XP_024308068.1:p.Pro207=
XR_001755361.2:n.2124T>C
XR_001755364.1:n.1980T>C
XR_001755366.2:n.2653T>C
XR_002958721.1:n.2202T>C
XR_937947.2:n.2202T>C
NM_001349898.2:c.1416T>C	NP_001336827.1:p.Pro472=
NM_001349899.2:c.1416T>C	NP_001336828.1:p.Pro472=
NM_001349900.2:c.1470T>C	NP_001336829.1:p.Pro490=
NM_001349903.2:c.1416T>C	NP_001336832.1:p.Pro472=
NM_001349904.2:c.1416T>C	NP_001336833.1:p.Pro472=
NR_073136.2:n.1671T>C
NR_146311.2:n.2113T>C
NR_146313.2:n.1958T>C
NR_146315.2:n.2029T>C
NM_022081.6:c.1416T>C MANE Select	NP_071364.4:p.Pro472=
NR_146316.2:n.2004T>C