Canonical Allele Identifier: CA5638838

Gene: HPS1

Linked Data

• ClinVar Variation Id: 298337
• ClinVar RCV Id: RCV000360492 ; RCV000910981 ; RCV001275292 ; RCV001820863 ; RCV003957556
• dbSNP Id: rs148225281
• ExAC: 10:100177944 C / T
• gnomAD v2: 10-100177944-C-T
• gnomAD v3: 10-98418187-C-T
• gnomAD v4: 10-98418187-C-T
• MyVariant Identifiers: chr10:g.100177944C>T (hg19) ; chr10:g.98418187C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98418187C>T , CM000672.2:g.98418187C>T	GRCh38
NC_000010.10:g.100177944C>T , CM000672.1:g.100177944C>T	GRCh37
NC_000010.9:g.100167934C>T	NCBI36
NG_009646.1:g.33761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699112.1:c.1568G>A	ENSP00000514137.1:p.Gly523Glu
ENST00000699113.1:c.*1284G>A	ENSP00000514138.1:n.*1284G>A
ENST00000699114.1:n.1815G>A
ENST00000699115.1:c.*505G>A	ENSP00000514139.1:n.*505G>A
ENST00000699116.1:n.4396G>A
ENST00000699117.1:n.2580G>A
ENST00000699118.1:c.1541G>A	ENSP00000514140.1:p.Gly514Glu
ENST00000699119.1:c.*1119G>A	ENSP00000514141.1:n.*1119G>A
ENST00000699120.1:c.*1386G>A	ENSP00000514142.1:n.*1386G>A
ENST00000699121.1:c.*1287G>A	ENSP00000514143.1:n.*1287G>A
ENST00000699122.1:c.1355G>A	ENSP00000514144.1:p.Gly452Glu
ENST00000699123.1:c.*1696G>A	ENSP00000514145.1:n.*1696G>A
ENST00000699124.1:n.3331G>A
ENST00000699125.1:c.1958G>A	ENSP00000514146.1:p.Gly653Glu
ENST00000699126.1:n.3909G>A
ENST00000699127.1:n.2255G>A
ENST00000699128.1:c.*1045G>A	ENSP00000514147.1:n.*1045G>A
ENST00000699129.1:c.*1151G>A	ENSP00000514148.1:n.*1151G>A
ENST00000699130.1:n.3301G>A
ENST00000699131.1:c.1760G>A	ENSP00000514149.1:p.Gly587Glu
ENST00000699132.1:n.4223G>A
ENST00000699133.1:c.1661G>A	ENSP00000514150.1:p.Gly554Glu
ENST00000699134.1:c.2186G>A	ENSP00000514151.1:p.Gly729Glu
ENST00000699135.1:c.*1138G>A	ENSP00000514152.1:n.*1138G>A
ENST00000699136.1:c.1829G>A	ENSP00000514153.1:p.Gly610Glu
ENST00000699137.1:c.1541G>A	ENSP00000514154.1:p.Gly514Glu
ENST00000699138.1:c.*1386G>A	ENSP00000514155.1:n.*1386G>A
ENST00000699139.1:c.1667G>A	ENSP00000514156.1:p.Gly556Glu
ENST00000699140.1:c.1829G>A	ENSP00000514157.1:p.Gly610Glu
ENST00000699141.1:c.*1364G>A	ENSP00000514158.1:n.*1364G>A
ENST00000699142.1:c.1928G>A	ENSP00000514159.1:p.Gly643Glu
ENST00000699143.1:c.*1287G>A	ENSP00000514160.1:n.*1287G>A
ENST00000699144.1:c.*1386G>A	ENSP00000514161.1:n.*1386G>A
ENST00000699145.1:c.1928G>A	ENSP00000514162.1:p.Gly643Glu
ENST00000699146.1:c.1928G>A	ENSP00000514164.1:p.Gly643Glu
ENST00000699147.1:c.*1316-461G>A	ENSP00000514165.1:n.*1316-461G>A
ENST00000699148.1:n.1134G>A
ENST00000699159.1:c.*1287G>A	ENSP00000514167.1:n.*1287G>A
ENST00000361490.9:c.1928G>A MANE Select	ENSP00000355310.4:p.Gly643Glu
ENST00000325103.10:c.1928G>A	ENSP00000326649.6:p.Gly643Glu
ENST00000361490.8:c.1928G>A	ENSP00000355310.4:p.Gly643Glu
ENST00000462743.1:n.396G>A
ENST00000467246.5:n.2067G>A
ENST00000613394.4:c.1928G>A	ENSP00000477926.1:p.Gly643Glu
NM_000195.3:c.1928G>A	NP_000186.2:p.Gly643Glu
NM_000195.4:c.1928G>A	NP_000186.2:p.Gly643Glu
NM_001311345.1:c.956G>A	NP_001298274.1:p.Gly319Glu
XM_005269755.2:c.1928G>A	XP_005269812.1:p.Gly643Glu
XM_005269756.2:c.1928G>A	XP_005269813.1:p.Gly643Glu
XM_005269757.3:c.1928G>A	XP_005269814.1:p.Gly643Glu
XM_005269758.1:c.1829G>A	XP_005269815.1:p.Gly610Glu
XM_005269759.1:c.1559G>A	XP_005269816.1:p.Gly520Glu
XM_005269760.3:c.956G>A	XP_005269817.1:p.Gly319Glu
XM_005269761.1:c.956G>A	XP_005269818.1:p.Gly319Glu
XM_006717818.1:c.1667G>A	XP_006717881.1:p.Gly556Glu
NM_001322476.1:c.1928G>A	NP_001309405.1:p.Gly643Glu
NM_001322477.1:c.1928G>A	NP_001309406.1:p.Gly643Glu
NM_001322478.1:c.1829G>A	NP_001309407.1:p.Gly610Glu
NM_001322479.1:c.1829G>A	NP_001309408.1:p.Gly610Glu
NM_001322480.1:c.1667G>A	NP_001309409.1:p.Gly556Glu
NM_001322481.1:c.1667G>A	NP_001309410.1:p.Gly556Glu
NM_001322482.1:c.1568G>A	NP_001309411.1:p.Gly523Glu
NM_001322483.1:c.1559G>A	NP_001309412.1:p.Gly520Glu
NM_001322484.1:c.1559G>A	NP_001309413.1:p.Gly520Glu
NM_001322485.1:c.1460G>A	NP_001309414.1:p.Gly487Glu
NM_001322487.1:c.956G>A	NP_001309416.1:p.Gly319Glu
NM_001322489.1:c.956G>A	NP_001309418.1:p.Gly319Glu
XM_005269757.4:c.1928G>A	XP_005269814.1:p.Gly643Glu
XM_017016170.1:c.1568G>A	XP_016871659.1:p.Gly523Glu
XM_017016171.2:c.1460G>A	XP_016871660.1:p.Gly487Glu
XM_017016172.2:c.956G>A	XP_016871661.1:p.Gly319Glu
XM_024447971.1:c.1958G>A	XP_024303739.1:p.Gly653Glu
XM_024447972.1:c.956G>A	XP_024303740.1:p.Gly319Glu
XR_001747098.1:n.2197G>A
XR_001747099.2:n.2175G>A
XR_001747101.2:n.2076G>A
NM_000195.5:c.1928G>A MANE Select	NP_000186.2:p.Gly643Glu
NM_001311345.2:c.956G>A	NP_001298274.1:p.Gly319Glu
NM_001322476.2:c.1928G>A	NP_001309405.1:p.Gly643Glu
NM_001322477.2:c.1928G>A	NP_001309406.1:p.Gly643Glu
NM_001322478.2:c.1829G>A	NP_001309407.1:p.Gly610Glu
NM_001322479.2:c.1829G>A	NP_001309408.1:p.Gly610Glu
NM_001322480.2:c.1667G>A	NP_001309409.1:p.Gly556Glu
NM_001322481.2:c.1667G>A	NP_001309410.1:p.Gly556Glu
NM_001322482.2:c.1568G>A	NP_001309411.1:p.Gly523Glu
NM_001322483.2:c.1559G>A	NP_001309412.1:p.Gly520Glu
NM_001322484.2:c.1559G>A	NP_001309413.1:p.Gly520Glu
NM_001322485.2:c.1460G>A	NP_001309414.1:p.Gly487Glu
NM_001322487.2:c.956G>A	NP_001309416.1:p.Gly319Glu
NM_001322489.2:c.956G>A	NP_001309418.1:p.Gly319Glu