Canonical Allele Identifier: CA322855096

Gene: HPS4

Linked Data

• dbSNP Id: rs991435091
• MyVariant Identifiers: chr22:g.26871008C>T (hg19) ; chr22:g.26475042C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26475042C>T , CM000684.2:g.26475042C>T	GRCh38
NC_000022.10:g.26871008C>T , CM000684.1:g.26871008C>T	GRCh37
NC_000022.9:g.25201008C>T	NCBI36
NG_009763.2:g.13822G>A , LRG_590:g.13822G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000422379.3:c.276+1951G>A	ENSP00000415081.3:n.276+1951G>A
ENST00000473782.2:c.276+1951G>A	ENSP00000514223.1:n.276+1951G>A
ENST00000483631.2:c.-520+1951G>A	ENSP00000514228.1:n.-520+1951G>A
ENST00000491142.2:c.276+1951G>A	ENSP00000514221.1:n.276+1951G>A
ENST00000699227.1:c.276+1951G>A	ENSP00000514220.1:n.276+1951G>A
ENST00000699228.1:n.826+1951G>A
ENST00000699234.1:c.261+1951G>A	ENSP00000514222.1:n.261+1951G>A
ENST00000699235.1:c.-447+1951G>A	ENSP00000514224.1:n.-447+1951G>A
ENST00000699236.1:c.276+1951G>A	ENSP00000514225.1:n.276+1951G>A
ENST00000699237.1:c.276+1951G>A	ENSP00000514226.1:n.276+1951G>A
ENST00000699238.1:c.276+1951G>A	ENSP00000514227.1:n.276+1951G>A
ENST00000699239.1:n.742+1951G>A
ENST00000699240.1:c.276+1951G>A	ENSP00000514229.1:n.276+1951G>A
ENST00000699241.1:c.276+1951G>A	ENSP00000514230.1:n.276+1951G>A
ENST00000699242.1:c.133-2103G>A	ENSP00000514231.1:n.133-2103G>A
ENST00000699243.1:c.276+1951G>A	ENSP00000514232.1:n.276+1951G>A
ENST00000699244.1:c.276+1951G>A	ENSP00000514233.1:n.276+1951G>A
ENST00000699246.1:c.276+1951G>A	ENSP00000514234.1:n.276+1951G>A
ENST00000699247.1:c.276+1951G>A	ENSP00000514235.1:n.276+1951G>A
ENST00000699248.1:n.244G>A
ENST00000699249.1:c.276+1951G>A	ENSP00000514236.1:n.276+1951G>A
ENST00000699250.1:c.276+1951G>A	ENSP00000514237.1:n.276+1951G>A
ENST00000699251.1:c.276+1951G>A	ENSP00000514238.1:n.276+1951G>A
ENST00000699252.1:n.826+1951G>A
ENST00000699253.1:n.846+1951G>A
ENST00000699254.1:n.619+1951G>A
ENST00000699255.1:n.362+1951G>A
ENST00000398145.7:c.276+1951G>A MANE Select	ENSP00000381213.2:n.276+1951G>A
ENST00000336873.9:c.276+1951G>A	ENSP00000338457.5:n.276+1951G>A
ENST00000398145.6:c.276+1951G>A	ENSP00000381213.2:n.276+1951G>A
ENST00000402105.7:c.261+1951G>A	ENSP00000384185.3:n.261+1951G>A
ENST00000422379.2:c.276+1951G>A	ENSP00000415081.2:n.276+1951G>A
ENST00000429411.5:c.261+1951G>A	ENSP00000399705.1:n.261+1951G>A
ENST00000439453.5:c.276+1951G>A	ENSP00000406764.1:n.276+1951G>A
ENST00000459918.1:n.19+1951G>A
ENST00000464362.5:c.261+1951G>A	ENSP00000430291.1:n.261+1951G>A
ENST00000466781.5:n.847+1951G>A
ENST00000496385.5:n.368+1951G>A
NM_022081.5:c.276+1951G>A , LRG_590t1:c.276+1951G>A	NP_071364.4:n.276+1951G>A
NM_152841.2:c.261+1951G>A , LRG_590t2:c.261+1951G>A	NP_690054.1:n.261+1951G>A
NR_073135.1:n.853+1951G>A
NR_073136.1:n.561+1951G>A
XM_006724353.2:c.276+1951G>A	XP_006724416.1:n.276+1951G>A
XM_006724354.2:c.276+1951G>A	XP_006724417.1:n.276+1951G>A
XM_011530485.1:c.276+1951G>A	XP_011528787.1:n.276+1951G>A
XM_011530486.1:c.276+1951G>A	XP_011528788.1:n.276+1951G>A
XM_011530487.1:c.276+1951G>A	XP_011528789.1:n.276+1951G>A
XM_011530488.1:c.276+1951G>A	XP_011528790.1:n.276+1951G>A
XM_011530489.1:c.276+1951G>A	XP_011528791.1:n.276+1951G>A
XM_011530490.1:c.276+1951G>A	XP_011528792.1:n.276+1951G>A
XM_011530491.1:c.276+1951G>A	XP_011528793.1:n.276+1951G>A
XM_011530492.1:c.276+1951G>A	XP_011528794.1:n.276+1951G>A
XM_011530493.1:c.276+1951G>A	XP_011528795.1:n.276+1951G>A
XM_011530494.1:c.-517+1951G>A	XP_011528796.1:n.-517+1951G>A
XR_937947.1:n.935+1951G>A
NM_001349896.1:c.276+1951G>A	NP_001336825.1:n.276+1951G>A
NM_001349898.1:c.276+1951G>A	NP_001336827.1:n.276+1951G>A
NM_001349899.1:c.276+1951G>A	NP_001336828.1:n.276+1951G>A
NM_001349900.1:c.276+1951G>A	NP_001336829.1:n.276+1951G>A
NM_001349901.1:c.276+1951G>A	NP_001336830.1:n.276+1951G>A
NM_001349902.1:c.276+1951G>A	NP_001336831.1:n.276+1951G>A
NM_001349903.1:c.276+1951G>A	NP_001336832.1:n.276+1951G>A
NM_001349904.1:c.276+1951G>A	NP_001336833.1:n.276+1951G>A
NM_001349905.1:c.276+1951G>A	NP_001336834.1:n.276+1951G>A
NR_146311.1:n.944+1951G>A
NR_146312.1:n.853+1951G>A
NR_146313.1:n.873+1951G>A
NR_146314.1:n.853+1951G>A
NR_146315.1:n.944+1951G>A
NR_146316.1:n.944+1951G>A
XM_011530485.2:c.276+1951G>A	XP_011528787.1:n.276+1951G>A
XM_011530486.2:c.276+1951G>A	XP_011528788.1:n.276+1951G>A
XM_011530487.2:c.276+1951G>A	XP_011528789.1:n.276+1951G>A
XM_011530488.2:c.276+1951G>A	XP_011528790.1:n.276+1951G>A
XM_011530489.2:c.276+1951G>A	XP_011528791.1:n.276+1951G>A
XM_011530490.3:c.276+1951G>A	XP_011528792.1:n.276+1951G>A
XM_011530491.3:c.276+1951G>A	XP_011528793.1:n.276+1951G>A
XM_011530492.2:c.276+1951G>A	XP_011528794.1:n.276+1951G>A
XM_011530493.3:c.276+1951G>A	XP_011528795.1:n.276+1951G>A
XM_011530494.2:c.-517+1951G>A	XP_011528796.1:n.-517+1951G>A
XM_017029045.2:c.276+1951G>A	XP_016884534.1:n.276+1951G>A
XM_017029046.2:c.276+1951G>A	XP_016884535.1:n.276+1951G>A
XM_017029047.2:c.276+1951G>A	XP_016884536.1:n.276+1951G>A
XM_017029052.2:c.-296+1951G>A	XP_016884541.1:n.-296+1951G>A
XM_017029056.2:c.-696+1951G>A	XP_016884545.1:n.-696+1951G>A
XM_017029061.2:c.-654+1951G>A	XP_016884550.1:n.-654+1951G>A
XM_017029062.2:c.-520+1951G>A	XP_016884551.1:n.-520+1951G>A
XM_017029063.2:c.-654+1951G>A	XP_016884552.1:n.-654+1951G>A
XM_017029064.2:c.-520+1951G>A	XP_016884553.1:n.-520+1951G>A
XM_024452298.1:c.-2640+1951G>A	XP_024308066.1:n.-2640+1951G>A
XM_024452299.1:c.-1194+1951G>A	XP_024308067.1:n.-1194+1951G>A
XM_024452300.1:c.-545+1951G>A	XP_024308068.1:n.-545+1951G>A
XR_001755361.2:n.930+1951G>A
XR_001755364.1:n.840+1951G>A
XR_001755366.2:n.839+1951G>A
XR_002958721.1:n.930+1951G>A
XR_937947.2:n.930+1951G>A
NM_001349898.2:c.276+1951G>A	NP_001336827.1:n.276+1951G>A
NM_001349899.2:c.276+1951G>A	NP_001336828.1:n.276+1951G>A
NM_001349900.2:c.276+1951G>A	NP_001336829.1:n.276+1951G>A
NM_001349903.2:c.276+1951G>A	NP_001336832.1:n.276+1951G>A
NM_001349904.2:c.276+1951G>A	NP_001336833.1:n.276+1951G>A
NR_073136.2:n.368+1951G>A
NR_146311.2:n.864+1951G>A
NR_146313.2:n.793+1951G>A
NR_146315.2:n.864+1951G>A
NM_022081.6:c.276+1951G>A MANE Select	NP_071364.4:n.276+1951G>A
NR_146316.2:n.864+1951G>A