Canonical Allele Identifier: CA10163155

Gene: HPS4

Linked Data

• dbSNP Id: rs760087525
• ExAC: 22:26853862 A / G
• MyVariant Identifiers: chr22:g.26853862A>G (hg19) ; chr22:g.26457896A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457896A>G , CM000684.2:g.26457896A>G	GRCh38
NC_000022.10:g.26853862A>G , CM000684.1:g.26853862A>G	GRCh37
NC_000022.9:g.25183862A>G	NCBI36
NG_009763.2:g.30968T>C , LRG_590:g.30968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1972T>C	ENSP00000415081.3:p.Phe658Leu
ENST00000473782.2:c.1918T>C	ENSP00000514223.1:p.Phe640Leu
ENST00000483631.2:c.1123T>C	ENSP00000514228.1:p.Phe375Leu
ENST00000491142.2:c.1918T>C	ENSP00000514221.1:p.Phe640Leu
ENST00000699226.1:n.4844T>C
ENST00000699227.1:c.*1262T>C	ENSP00000514220.1:n.*1262T>C
ENST00000699228.1:n.2468T>C
ENST00000699229.1:n.1335T>C
ENST00000699230.1:n.2641T>C
ENST00000699231.1:n.4930T>C
ENST00000699232.1:n.3274T>C
ENST00000699233.1:n.1789T>C
ENST00000699234.1:c.*1262T>C	ENSP00000514222.1:n.*1262T>C
ENST00000699235.1:c.1123T>C	ENSP00000514224.1:p.Phe375Leu
ENST00000699236.1:c.*1107T>C	ENSP00000514225.1:n.*1107T>C
ENST00000699237.1:c.*1107T>C	ENSP00000514226.1:n.*1107T>C
ENST00000699238.1:c.*1461T>C	ENSP00000514227.1:n.*1461T>C
ENST00000699239.1:n.4672T>C
ENST00000699240.1:c.*1575T>C	ENSP00000514229.1:n.*1575T>C
ENST00000699241.1:c.*2110T>C	ENSP00000514230.1:n.*2110T>C
ENST00000699242.1:c.1828T>C	ENSP00000514231.1:p.Phe610Leu
ENST00000699243.1:c.*1262T>C	ENSP00000514232.1:n.*1262T>C
ENST00000699244.1:c.1771T>C	ENSP00000514233.1:p.Phe591Leu
ENST00000699245.1:n.1210T>C
ENST00000699246.1:c.*1289T>C	ENSP00000514234.1:n.*1289T>C
ENST00000699247.1:c.874T>C	ENSP00000514235.1:p.Phe292Leu
ENST00000699248.1:n.3784-4492T>C
ENST00000699249.1:c.*1058-4492T>C	ENSP00000514236.1:n.*1058-4492T>C
ENST00000699250.1:c.1714-4492T>C	ENSP00000514237.1:n.1714-4492T>C
ENST00000699251.1:c.1918T>C	ENSP00000514238.1:p.Phe640Leu
ENST00000699252.1:n.2468T>C
ENST00000398145.7:c.1918T>C MANE Select	ENSP00000381213.2:p.Phe640Leu
ENST00000336873.9:c.1918T>C	ENSP00000338457.5:p.Phe640Leu
ENST00000398145.6:c.1918T>C	ENSP00000381213.2:p.Phe640Leu
ENST00000402105.7:c.1903T>C	ENSP00000384185.3:p.Phe635Leu
ENST00000429411.5:c.*1490T>C	ENSP00000399705.1:n.*1490T>C
ENST00000439453.5:c.*1436T>C	ENSP00000406764.1:n.*1436T>C
ENST00000464362.5:c.*2249T>C	ENSP00000430291.1:n.*2249T>C
ENST00000466781.5:n.4777T>C
ENST00000485842.5:n.609T>C
ENST00000493455.6:n.481T>C
ENST00000496385.5:n.2480-4492T>C
ENST00000519774.5:n.304T>C
NM_022081.5:c.1918T>C , LRG_590t1:c.1918T>C	NP_071364.4:p.Phe640Leu
NM_152841.2:c.1903T>C , LRG_590t2:c.1903T>C	NP_690054.1:p.Phe635Leu
NR_073135.1:n.2604T>C
NR_073136.1:n.2366T>C
XM_006724353.2:c.1972T>C	XP_006724416.1:p.Phe658Leu
XM_006724354.2:c.1972T>C	XP_006724417.1:p.Phe658Leu
XM_006724360.2:c.1405T>C	XP_006724423.1:p.Phe469Leu
XM_011530485.1:c.2050T>C	XP_011528787.1:p.Phe684Leu
XM_011530486.1:c.2050T>C	XP_011528788.1:p.Phe684Leu
XM_011530487.1:c.2050T>C	XP_011528789.1:p.Phe684Leu
XM_011530488.1:c.2050T>C	XP_011528790.1:p.Phe684Leu
XM_011530489.1:c.2050T>C	XP_011528791.1:p.Phe684Leu
XM_011530490.1:c.1996T>C	XP_011528792.1:p.Phe666Leu
XM_011530491.1:c.2050T>C	XP_011528793.1:p.Phe684Leu
XM_011530492.1:c.2050T>C	XP_011528794.1:p.Phe684Leu
XM_011530493.1:c.1846-4492T>C	XP_011528795.1:n.1846-4492T>C
XM_011530494.1:c.1258T>C	XP_011528796.1:p.Phe420Leu
XM_011530495.1:c.1405T>C	XP_011528797.1:p.Phe469Leu
XM_011530496.1:c.1258T>C	XP_011528798.1:p.Phe420Leu
XR_937947.1:n.2709T>C
NM_001349896.1:c.1918T>C	NP_001336825.1:p.Phe640Leu
NM_001349898.1:c.1918T>C	NP_001336827.1:p.Phe640Leu
NM_001349899.1:c.1918T>C	NP_001336828.1:p.Phe640Leu
NM_001349900.1:c.1972T>C	NP_001336829.1:p.Phe658Leu
NM_001349901.1:c.1972T>C	NP_001336830.1:p.Phe658Leu
NM_001349902.1:c.1714-4492T>C	NP_001336831.1:n.1714-4492T>C
NM_001349903.1:c.1714-4492T>C	NP_001336832.1:n.1714-4492T>C
NM_001349904.1:c.1918T>C	NP_001336833.1:p.Phe640Leu
NM_001349905.1:c.1918T>C	NP_001336834.1:p.Phe640Leu
NR_146311.1:n.2695T>C
NR_146312.1:n.2520T>C
NR_146313.1:n.2540T>C
NR_146314.1:n.2671T>C
NR_146315.1:n.2611T>C
NR_146316.1:n.2586T>C
XM_006724360.3:c.1405T>C	XP_006724423.1:p.Phe469Leu
XM_011530485.2:c.2050T>C	XP_011528787.1:p.Phe684Leu
XM_011530486.2:c.2050T>C	XP_011528788.1:p.Phe684Leu
XM_011530487.2:c.2050T>C	XP_011528789.1:p.Phe684Leu
XM_011530488.2:c.2050T>C	XP_011528790.1:p.Phe684Leu
XM_011530489.2:c.2050T>C	XP_011528791.1:p.Phe684Leu
XM_011530490.3:c.1996T>C	XP_011528792.1:p.Phe666Leu
XM_011530491.3:c.2050T>C	XP_011528793.1:p.Phe684Leu
XM_011530492.2:c.2050T>C	XP_011528794.1:p.Phe684Leu
XM_011530493.3:c.1846-4492T>C	XP_011528795.1:n.1846-4492T>C
XM_011530494.2:c.1258T>C	XP_011528796.1:p.Phe420Leu
XM_011530495.2:c.1405T>C	XP_011528797.1:p.Phe469Leu
XM_011530496.2:c.1258T>C	XP_011528798.1:p.Phe420Leu
XM_017029045.2:c.1996T>C	XP_016884534.1:p.Phe666Leu
XM_017029046.2:c.1918T>C	XP_016884535.1:p.Phe640Leu
XM_017029047.2:c.1792-4492T>C	XP_016884536.1:n.1792-4492T>C
XM_017029052.2:c.1510T>C	XP_016884541.1:p.Phe504Leu
XM_017029053.1:c.1495T>C	XP_016884542.1:p.Phe499Leu
XM_017029056.2:c.1123T>C	XP_016884545.1:p.Phe375Leu
XM_017029061.2:c.1123T>C	XP_016884550.1:p.Phe375Leu
XM_017029062.2:c.1123T>C	XP_016884551.1:p.Phe375Leu
XM_017029063.2:c.1123T>C	XP_016884552.1:p.Phe375Leu
XM_017029064.2:c.1123T>C	XP_016884553.1:p.Phe375Leu
XM_024452298.1:c.1291T>C	XP_024308066.1:p.Phe431Leu
XM_024452299.1:c.1123T>C	XP_024308067.1:p.Phe375Leu
XM_024452300.1:c.1123T>C	XP_024308068.1:p.Phe375Leu
XR_001755361.2:n.2626T>C
XR_001755364.1:n.2278-4492T>C
XR_001755366.2:n.3155T>C
XR_002958721.1:n.2500-4492T>C
XR_937947.2:n.2704T>C
NM_001349898.2:c.1918T>C	NP_001336827.1:p.Phe640Leu
NM_001349899.2:c.1918T>C	NP_001336828.1:p.Phe640Leu
NM_001349900.2:c.1972T>C	NP_001336829.1:p.Phe658Leu
NM_001349903.2:c.1714-4492T>C	NP_001336832.1:n.1714-4492T>C
NM_001349904.2:c.1918T>C	NP_001336833.1:p.Phe640Leu
NR_073136.2:n.2173T>C
NR_146311.2:n.2615T>C
NR_146313.2:n.2460T>C
NR_146315.2:n.2531T>C
NM_022081.6:c.1918T>C MANE Select	NP_071364.4:p.Phe640Leu
NR_146316.2:n.2506T>C