Canonical Allele Identifier: CA340385

Gene: HPS1

Linked Data

• ClinVar Variation Id: 5279
• ClinVar RCV Id: RCV000005597 ; RCV000851731
• dbSNP Id: rs121908385
• MyVariant Identifiers: chr10:g.100177428C>A (hg19) ; chr10:g.98417671C>A (hg38)
• PubMed: PMID:9497254 ; PMID:20301464

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98417671C>A , CM000672.2:g.98417671C>A	GRCh38
NC_000010.10:g.100177428C>A , CM000672.1:g.100177428C>A	GRCh37
NC_000010.9:g.100167418C>A	NCBI36
NG_009646.1:g.34277G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699112.1:c.1636G>T	ENSP00000514137.1:p.Glu546Ter
ENST00000699113.1:c.*1352G>T	ENSP00000514138.1:n.*1352G>T
ENST00000699114.1:n.1883G>T
ENST00000699115.1:c.*573G>T	ENSP00000514139.1:n.*573G>T
ENST00000699116.1:n.4464G>T
ENST00000699117.1:n.2648G>T
ENST00000699118.1:c.1609G>T	ENSP00000514140.1:p.Glu537Ter
ENST00000699119.1:c.*1187G>T	ENSP00000514141.1:n.*1187G>T
ENST00000699120.1:c.*1454G>T	ENSP00000514142.1:n.*1454G>T
ENST00000699121.1:c.*1355G>T	ENSP00000514143.1:n.*1355G>T
ENST00000699122.1:c.1423G>T	ENSP00000514144.1:p.Glu475Ter
ENST00000699123.1:c.*1764G>T	ENSP00000514145.1:n.*1764G>T
ENST00000699124.1:n.3399G>T
ENST00000699125.1:c.2026G>T	ENSP00000514146.1:p.Glu676Ter
ENST00000699126.1:n.3977G>T
ENST00000699127.1:n.2323G>T
ENST00000699128.1:c.*1113G>T	ENSP00000514147.1:n.*1113G>T
ENST00000699129.1:c.*1219G>T	ENSP00000514148.1:n.*1219G>T
ENST00000699130.1:n.3369G>T
ENST00000699131.1:c.1828G>T	ENSP00000514149.1:p.Glu610Ter
ENST00000699132.1:n.4291G>T
ENST00000699133.1:c.1729G>T	ENSP00000514150.1:p.Glu577Ter
ENST00000699134.1:c.2254G>T	ENSP00000514151.1:p.Glu752Ter
ENST00000699135.1:c.*1206G>T	ENSP00000514152.1:n.*1206G>T
ENST00000699136.1:c.1897G>T	ENSP00000514153.1:p.Glu633Ter
ENST00000699137.1:c.1609G>T	ENSP00000514154.1:p.Glu537Ter
ENST00000699138.1:c.*1454G>T	ENSP00000514155.1:n.*1454G>T
ENST00000699139.1:c.1735G>T	ENSP00000514156.1:p.Glu579Ter
ENST00000699140.1:c.1897G>T	ENSP00000514157.1:p.Glu633Ter
ENST00000699141.1:c.*1432G>T	ENSP00000514158.1:n.*1432G>T
ENST00000699142.1:c.1996G>T	ENSP00000514159.1:p.Glu666Ter
ENST00000699143.1:c.*1355G>T	ENSP00000514160.1:n.*1355G>T
ENST00000699144.1:c.*1454G>T	ENSP00000514161.1:n.*1454G>T
ENST00000699145.1:c.1996G>T	ENSP00000514162.1:p.Glu666Ter
ENST00000699146.1:c.1988+8G>T	ENSP00000514164.1:n.1988+8G>T
ENST00000699147.1:c.*1371G>T	ENSP00000514165.1:n.*1371G>T
ENST00000699159.1:c.*1347+8G>T	ENSP00000514167.1:n.*1347+8G>T
ENST00000361490.9:c.1996G>T MANE Select	ENSP00000355310.4:p.Glu666Ter
ENST00000325103.10:c.1996G>T	ENSP00000326649.6:p.Glu666Ter
ENST00000361490.8:c.1996G>T	ENSP00000355310.4:p.Glu666Ter
ENST00000467246.5:n.2135G>T
ENST00000613394.4:c.1996G>T	ENSP00000477926.1:p.Glu666Ter
NM_000195.3:c.1996G>T	NP_000186.2:p.Glu666Ter
NM_000195.4:c.1996G>T	NP_000186.2:p.Glu666Ter
NM_001311345.1:c.1024G>T	NP_001298274.1:p.Glu342Ter
XM_005269755.2:c.1996G>T	XP_005269812.1:p.Glu666Ter
XM_005269756.2:c.1996G>T	XP_005269813.1:p.Glu666Ter
XM_005269757.3:c.1996G>T	XP_005269814.1:p.Glu666Ter
XM_005269758.1:c.1897G>T	XP_005269815.1:p.Glu633Ter
XM_005269759.1:c.1627G>T	XP_005269816.1:p.Glu543Ter
XM_005269760.3:c.1024G>T	XP_005269817.1:p.Glu342Ter
XM_005269761.1:c.1024G>T	XP_005269818.1:p.Glu342Ter
XM_006717818.1:c.1735G>T	XP_006717881.1:p.Glu579Ter
NM_001322476.1:c.1996G>T	NP_001309405.1:p.Glu666Ter
NM_001322477.1:c.1996G>T	NP_001309406.1:p.Glu666Ter
NM_001322478.1:c.1897G>T	NP_001309407.1:p.Glu633Ter
NM_001322479.1:c.1897G>T	NP_001309408.1:p.Glu633Ter
NM_001322480.1:c.1735G>T	NP_001309409.1:p.Glu579Ter
NM_001322481.1:c.1735G>T	NP_001309410.1:p.Glu579Ter
NM_001322482.1:c.1636G>T	NP_001309411.1:p.Glu546Ter
NM_001322483.1:c.1627G>T	NP_001309412.1:p.Glu543Ter
NM_001322484.1:c.1627G>T	NP_001309413.1:p.Glu543Ter
NM_001322485.1:c.1528G>T	NP_001309414.1:p.Glu510Ter
NM_001322487.1:c.1024G>T	NP_001309416.1:p.Glu342Ter
NM_001322489.1:c.1024G>T	NP_001309418.1:p.Glu342Ter
XM_005269757.4:c.1996G>T	XP_005269814.1:p.Glu666Ter
XM_017016170.1:c.1636G>T	XP_016871659.1:p.Glu546Ter
XM_017016171.2:c.1528G>T	XP_016871660.1:p.Glu510Ter
XM_017016172.2:c.1024G>T	XP_016871661.1:p.Glu342Ter
XM_024447971.1:c.2026G>T	XP_024303739.1:p.Glu676Ter
XM_024447972.1:c.1024G>T	XP_024303740.1:p.Glu342Ter
XR_001747098.1:n.2265G>T
XR_001747099.2:n.2243G>T
XR_001747101.2:n.2144G>T
NM_000195.5:c.1996G>T MANE Select	NP_000186.2:p.Glu666Ter
NM_001311345.2:c.1024G>T	NP_001298274.1:p.Glu342Ter
NM_001322476.2:c.1996G>T	NP_001309405.1:p.Glu666Ter
NM_001322477.2:c.1996G>T	NP_001309406.1:p.Glu666Ter
NM_001322478.2:c.1897G>T	NP_001309407.1:p.Glu633Ter
NM_001322479.2:c.1897G>T	NP_001309408.1:p.Glu633Ter
NM_001322480.2:c.1735G>T	NP_001309409.1:p.Glu579Ter
NM_001322481.2:c.1735G>T	NP_001309410.1:p.Glu579Ter
NM_001322482.2:c.1636G>T	NP_001309411.1:p.Glu546Ter
NM_001322483.2:c.1627G>T	NP_001309412.1:p.Glu543Ter
NM_001322484.2:c.1627G>T	NP_001309413.1:p.Glu543Ter
NM_001322485.2:c.1528G>T	NP_001309414.1:p.Glu510Ter
NM_001322487.2:c.1024G>T	NP_001309416.1:p.Glu342Ter
NM_001322489.2:c.1024G>T	NP_001309418.1:p.Glu342Ter