Canonical Allele Identifier: CA3173975440

Gene: HPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98425553T= , CM000672.2:g.98425553T=	GRCh38
NC_000010.10:g.100185310T= , CM000672.1:g.100185310T=	GRCh37
NC_000010.9:g.100175300T=	NCBI36
NG_009646.1:g.26395A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000195.5:c.1323A= MANE Select	NP_000186.2:p.Ala441=
ENST00000361490.9:c.1323A= MANE Select	ENSP00000355310.4:p.Ala441=
NM_000195.3:c.1323A=	NP_000186.2:p.Ala441=
NM_000195.4:c.1323A=	NP_000186.2:p.Ala441=
NM_001311345.1:c.351A=	NP_001298274.1:p.Ala117=
NM_001311345.2:c.351A=	NP_001298274.1:p.Ala117=
NM_001322476.1:c.1323A=	NP_001309405.1:p.Ala441=
NM_001322476.2:c.1323A=	NP_001309405.1:p.Ala441=
NM_001322477.1:c.1323A=	NP_001309406.1:p.Ala441=
NM_001322477.2:c.1323A=	NP_001309406.1:p.Ala441=
NM_001322478.1:c.1224A=	NP_001309407.1:p.Ala408=
NM_001322478.2:c.1224A=	NP_001309407.1:p.Ala408=
NM_001322479.1:c.1224A=	NP_001309408.1:p.Ala408=
NM_001322479.2:c.1224A=	NP_001309408.1:p.Ala408=
NM_001322480.1:c.1062A=	NP_001309409.1:p.Ala354=
NM_001322480.2:c.1062A=	NP_001309409.1:p.Ala354=
NM_001322481.1:c.1062A=	NP_001309410.1:p.Ala354=
NM_001322481.2:c.1062A=	NP_001309410.1:p.Ala354=
NM_001322482.1:c.963A=	NP_001309411.1:p.Ala321=
NM_001322482.2:c.963A=	NP_001309411.1:p.Ala321=
NM_001322483.1:c.954A=	NP_001309412.1:p.Ala318=
NM_001322483.2:c.954A=	NP_001309412.1:p.Ala318=
NM_001322484.1:c.954A=	NP_001309413.1:p.Ala318=
NM_001322484.2:c.954A=	NP_001309413.1:p.Ala318=
NM_001322485.1:c.855A=	NP_001309414.1:p.Ala285=
NM_001322485.2:c.855A=	NP_001309414.1:p.Ala285=
NM_001322487.1:c.351A=	NP_001309416.1:p.Ala117=
NM_001322487.2:c.351A=	NP_001309416.1:p.Ala117=
NM_001322489.1:c.351A=	NP_001309418.1:p.Ala117=
NM_001322489.2:c.351A=	NP_001309418.1:p.Ala117=
ENST00000325103.10:c.1323A=	ENSP00000326649.6:p.Ala441=
ENST00000359632.7:c.708A=	ENSP00000352652.3:p.Ala236=
ENST00000361490.8:c.1323A=	ENSP00000355310.4:p.Ala441=
ENST00000467246.5:n.1462A=
ENST00000470095.5:n.540A=
ENST00000478087.5:n.701A=
ENST00000497527.1:n.454A=
ENST00000613394.4:c.1323A=	ENSP00000477926.1:p.Ala441=
ENST00000699112.1:c.963A=	ENSP00000514137.1:p.Ala321=
ENST00000699113.1:c.*701A=	ENSP00000514138.1:n.*701A=
ENST00000699114.1:n.1210A=
ENST00000699115.1:c.1056A=	ENSP00000514139.1:p.Ala352=
ENST00000699116.1:n.3282A=
ENST00000699117.1:n.1975A=
ENST00000699118.1:c.936A=	ENSP00000514140.1:p.Ala312=
ENST00000699119.1:c.*514A=	ENSP00000514141.1:n.*514A=
ENST00000699120.1:c.*781A=	ENSP00000514142.1:n.*781A=
ENST00000699121.1:c.*682A=	ENSP00000514143.1:n.*682A=
ENST00000699122.1:c.750A=	ENSP00000514144.1:p.Ala250=
ENST00000699123.1:c.*1091A=	ENSP00000514145.1:n.*1091A=
ENST00000699124.1:n.2642A=
ENST00000699125.1:c.1353A=	ENSP00000514146.1:p.Ala451=
ENST00000699126.1:n.2795A=
ENST00000699127.1:n.1566A=
ENST00000699128.1:c.*462A=	ENSP00000514147.1:n.*462A=
ENST00000699129.1:c.*462A=	ENSP00000514148.1:n.*462A=
ENST00000699130.1:n.2696A=
ENST00000699131.1:c.1155A=	ENSP00000514149.1:p.Ala385=
ENST00000699132.1:n.3618A=
ENST00000699133.1:c.1056A=	ENSP00000514150.1:p.Ala352=
ENST00000699134.1:c.1581A=	ENSP00000514151.1:p.Ala527=
ENST00000699135.1:c.*533A=	ENSP00000514152.1:n.*533A=
ENST00000699136.1:c.1224A=	ENSP00000514153.1:p.Ala408=
ENST00000699137.1:c.936A=	ENSP00000514154.1:p.Ala312=
ENST00000699138.1:c.*781A=	ENSP00000514155.1:n.*781A=
ENST00000699139.1:c.1062A=	ENSP00000514156.1:p.Ala354=
ENST00000699140.1:c.1224A=	ENSP00000514157.1:p.Ala408=
ENST00000699141.1:c.*781A=	ENSP00000514158.1:n.*781A=
ENST00000699142.1:c.1323A=	ENSP00000514159.1:p.Ala441=
ENST00000699143.1:c.*682A=	ENSP00000514160.1:n.*682A=
ENST00000699144.1:c.*781A=	ENSP00000514161.1:n.*781A=
ENST00000699145.1:c.1323A=	ENSP00000514162.1:p.Ala441=
ENST00000699146.1:c.1323A=	ENSP00000514164.1:p.Ala441=
ENST00000699147.1:c.*781A=	ENSP00000514165.1:n.*781A=
ENST00000699149.1:n.2795A=
ENST00000699159.1:c.*682A=	ENSP00000514167.1:n.*682A=
XM_005269755.2:c.1323A=	XP_005269812.1:p.Ala441=
XM_005269756.2:c.1323A=	XP_005269813.1:p.Ala441=
XM_005269757.3:c.1323A=	XP_005269814.1:p.Ala441=
XM_005269757.4:c.1323A=	XP_005269814.1:p.Ala441=
XM_005269758.1:c.1224A=	XP_005269815.1:p.Ala408=
XM_005269759.1:c.954A=	XP_005269816.1:p.Ala318=
XM_005269760.3:c.351A=	XP_005269817.1:p.Ala117=
XM_005269761.1:c.351A=	XP_005269818.1:p.Ala117=
XM_006717818.1:c.1062A=	XP_006717881.1:p.Ala354=
XM_017016170.1:c.963A=	XP_016871659.1:p.Ala321=
XM_017016171.2:c.855A=	XP_016871660.1:p.Ala285=
XM_017016172.2:c.351A=	XP_016871661.1:p.Ala117=
XM_024447971.1:c.1353A=	XP_024303739.1:p.Ala451=
XM_024447972.1:c.351A=	XP_024303740.1:p.Ala117=
XR_001747098.1:n.1592A=
XR_001747099.2:n.1592A=
XR_001747100.2:n.1592A=
XR_001747101.2:n.1493A=