Canonical Allele Identifier: CA378046746

Gene: HPS1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98424316C>T , CM000672.2:g.98424316C>T	GRCh38
NC_000010.10:g.100184073C>T , CM000672.1:g.100184073C>T	GRCh37
NC_000010.9:g.100174063C>T	NCBI36
NG_009646.1:g.27632G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699112.1:c.1034G>A	ENSP00000514137.1:p.Trp345Ter
ENST00000699113.1:c.*753+19G>A	ENSP00000514138.1:n.*753+19G>A
ENST00000699114.1:n.1281G>A
ENST00000699115.1:c.1108+19G>A	ENSP00000514139.1:n.1108+19G>A
ENST00000699116.1:n.3353G>A
ENST00000699117.1:n.2046G>A
ENST00000699118.1:c.1007G>A	ENSP00000514140.1:p.Trp336Ter
ENST00000699119.1:c.*585G>A	ENSP00000514141.1:n.*585G>A
ENST00000699120.1:c.*852G>A	ENSP00000514142.1:n.*852G>A
ENST00000699121.1:c.*753G>A	ENSP00000514143.1:n.*753G>A
ENST00000699122.1:c.821G>A	ENSP00000514144.1:p.Trp274Ter
ENST00000699123.1:c.*1162G>A	ENSP00000514145.1:n.*1162G>A
ENST00000699124.1:n.2713G>A
ENST00000699125.1:c.1424G>A	ENSP00000514146.1:p.Trp475Ter
ENST00000699126.1:n.2866G>A
ENST00000699127.1:n.1637G>A
ENST00000699128.1:c.*514+19G>A	ENSP00000514147.1:n.*514+19G>A
ENST00000699129.1:c.*533G>A	ENSP00000514148.1:n.*533G>A
ENST00000699130.1:n.2767G>A
ENST00000699131.1:c.1226G>A	ENSP00000514149.1:p.Trp409Ter
ENST00000699132.1:n.3689G>A
ENST00000699133.1:c.1127G>A	ENSP00000514150.1:p.Trp376Ter
ENST00000699134.1:c.1652G>A	ENSP00000514151.1:p.Trp551Ter
ENST00000699135.1:c.*604G>A	ENSP00000514152.1:n.*604G>A
ENST00000699136.1:c.1295G>A	ENSP00000514153.1:p.Trp432Ter
ENST00000699137.1:c.1007G>A	ENSP00000514154.1:p.Trp336Ter
ENST00000699138.1:c.*852G>A	ENSP00000514155.1:n.*852G>A
ENST00000699139.1:c.1133G>A	ENSP00000514156.1:p.Trp378Ter
ENST00000699140.1:c.1295G>A	ENSP00000514157.1:p.Trp432Ter
ENST00000699141.1:c.*833+19G>A	ENSP00000514158.1:n.*833+19G>A
ENST00000699142.1:c.1394G>A	ENSP00000514159.1:p.Trp465Ter
ENST00000699143.1:c.*753G>A	ENSP00000514160.1:n.*753G>A
ENST00000699144.1:c.*852G>A	ENSP00000514161.1:n.*852G>A
ENST00000699145.1:c.1394G>A	ENSP00000514162.1:p.Trp465Ter
ENST00000699146.1:c.1394G>A	ENSP00000514164.1:p.Trp465Ter
ENST00000699147.1:c.*852G>A	ENSP00000514165.1:n.*852G>A
ENST00000699148.1:n.175G>A
ENST00000699159.1:c.*753G>A	ENSP00000514167.1:n.*753G>A
ENST00000361490.9:c.1394G>A MANE Select	ENSP00000355310.4:p.Trp465Ter
ENST00000325103.10:c.1394G>A	ENSP00000326649.6:p.Trp465Ter
ENST00000359632.7:c.779G>A	ENSP00000352652.3:p.Trp260Ter
ENST00000361490.8:c.1394G>A	ENSP00000355310.4:p.Trp465Ter
ENST00000467246.5:n.1533G>A
ENST00000470095.5:n.611G>A
ENST00000478087.5:n.772G>A
ENST00000497527.1:n.525G>A
ENST00000613394.4:c.1394G>A	ENSP00000477926.1:p.Trp465Ter
NM_000195.3:c.1394G>A	NP_000186.2:p.Trp465Ter
NM_000195.4:c.1394G>A	NP_000186.2:p.Trp465Ter
NM_001311345.1:c.422G>A	NP_001298274.1:p.Trp141Ter
XM_005269755.2:c.1394G>A	XP_005269812.1:p.Trp465Ter
XM_005269756.2:c.1394G>A	XP_005269813.1:p.Trp465Ter
XM_005269757.3:c.1394G>A	XP_005269814.1:p.Trp465Ter
XM_005269758.1:c.1295G>A	XP_005269815.1:p.Trp432Ter
XM_005269759.1:c.1025G>A	XP_005269816.1:p.Trp342Ter
XM_005269760.3:c.422G>A	XP_005269817.1:p.Trp141Ter
XM_005269761.1:c.422G>A	XP_005269818.1:p.Trp141Ter
XM_006717818.1:c.1133G>A	XP_006717881.1:p.Trp378Ter
NM_001322476.1:c.1394G>A	NP_001309405.1:p.Trp465Ter
NM_001322477.1:c.1394G>A	NP_001309406.1:p.Trp465Ter
NM_001322478.1:c.1295G>A	NP_001309407.1:p.Trp432Ter
NM_001322479.1:c.1295G>A	NP_001309408.1:p.Trp432Ter
NM_001322480.1:c.1133G>A	NP_001309409.1:p.Trp378Ter
NM_001322481.1:c.1133G>A	NP_001309410.1:p.Trp378Ter
NM_001322482.1:c.1034G>A	NP_001309411.1:p.Trp345Ter
NM_001322483.1:c.1025G>A	NP_001309412.1:p.Trp342Ter
NM_001322484.1:c.1025G>A	NP_001309413.1:p.Trp342Ter
NM_001322485.1:c.926G>A	NP_001309414.1:p.Trp309Ter
NM_001322487.1:c.422G>A	NP_001309416.1:p.Trp141Ter
NM_001322489.1:c.422G>A	NP_001309418.1:p.Trp141Ter
XM_005269757.4:c.1394G>A	XP_005269814.1:p.Trp465Ter
XM_017016170.1:c.1034G>A	XP_016871659.1:p.Trp345Ter
XM_017016171.2:c.926G>A	XP_016871660.1:p.Trp309Ter
XM_017016172.2:c.422G>A	XP_016871661.1:p.Trp141Ter
XM_024447971.1:c.1424G>A	XP_024303739.1:p.Trp475Ter
XM_024447972.1:c.422G>A	XP_024303740.1:p.Trp141Ter
XR_001747098.1:n.1663G>A
XR_001747099.2:n.1644+19G>A
XR_001747100.2:n.1644+19G>A
XR_001747101.2:n.1545+19G>A
NM_000195.5:c.1394G>A MANE Select	NP_000186.2:p.Trp465Ter
NM_001311345.2:c.422G>A	NP_001298274.1:p.Trp141Ter
NM_001322476.2:c.1394G>A	NP_001309405.1:p.Trp465Ter
NM_001322477.2:c.1394G>A	NP_001309406.1:p.Trp465Ter
NM_001322478.2:c.1295G>A	NP_001309407.1:p.Trp432Ter
NM_001322479.2:c.1295G>A	NP_001309408.1:p.Trp432Ter
NM_001322480.2:c.1133G>A	NP_001309409.1:p.Trp378Ter
NM_001322481.2:c.1133G>A	NP_001309410.1:p.Trp378Ter
NM_001322482.2:c.1034G>A	NP_001309411.1:p.Trp345Ter
NM_001322483.2:c.1025G>A	NP_001309412.1:p.Trp342Ter
NM_001322484.2:c.1025G>A	NP_001309413.1:p.Trp342Ter
NM_001322485.2:c.926G>A	NP_001309414.1:p.Trp309Ter
NM_001322487.2:c.422G>A	NP_001309416.1:p.Trp141Ter
NM_001322489.2:c.422G>A	NP_001309418.1:p.Trp141Ter