Canonical Allele Identifier: CA471109791

Gene: HPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98420065G>A , CM000672.2:g.98420065G>A	GRCh38
NC_000010.10:g.100179822G>A , CM000672.1:g.100179822G>A	GRCh37
NC_000010.9:g.100169812G>A	NCBI36
NG_009646.1:g.31883C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000195.5:c.1837C>T MANE Select	NP_000186.2:p.Leu613=
ENST00000361490.9:c.1837C>T MANE Select	ENSP00000355310.4:p.Leu613=
NM_000195.3:c.1837C>T	NP_000186.2:p.Leu613=
NM_000195.4:c.1837C>T	NP_000186.2:p.Leu613=
NM_001311345.1:c.865C>T	NP_001298274.1:p.Leu289=
NM_001311345.2:c.865C>T	NP_001298274.1:p.Leu289=
NM_001322476.1:c.1837C>T	NP_001309405.1:p.Leu613=
NM_001322476.2:c.1837C>T	NP_001309405.1:p.Leu613=
NM_001322477.1:c.1837C>T	NP_001309406.1:p.Leu613=
NM_001322477.2:c.1837C>T	NP_001309406.1:p.Leu613=
NM_001322478.1:c.1738C>T	NP_001309407.1:p.Leu580=
NM_001322478.2:c.1738C>T	NP_001309407.1:p.Leu580=
NM_001322479.1:c.1738C>T	NP_001309408.1:p.Leu580=
NM_001322479.2:c.1738C>T	NP_001309408.1:p.Leu580=
NM_001322480.1:c.1576C>T	NP_001309409.1:p.Leu526=
NM_001322480.2:c.1576C>T	NP_001309409.1:p.Leu526=
NM_001322481.1:c.1576C>T	NP_001309410.1:p.Leu526=
NM_001322481.2:c.1576C>T	NP_001309410.1:p.Leu526=
NM_001322482.1:c.1477C>T	NP_001309411.1:p.Leu493=
NM_001322482.2:c.1477C>T	NP_001309411.1:p.Leu493=
NM_001322483.1:c.1468C>T	NP_001309412.1:p.Leu490=
NM_001322483.2:c.1468C>T	NP_001309412.1:p.Leu490=
NM_001322484.1:c.1468C>T	NP_001309413.1:p.Leu490=
NM_001322484.2:c.1468C>T	NP_001309413.1:p.Leu490=
NM_001322485.1:c.1369C>T	NP_001309414.1:p.Leu457=
NM_001322485.2:c.1369C>T	NP_001309414.1:p.Leu457=
NM_001322487.1:c.865C>T	NP_001309416.1:p.Leu289=
NM_001322487.2:c.865C>T	NP_001309416.1:p.Leu289=
NM_001322489.1:c.865C>T	NP_001309418.1:p.Leu289=
NM_001322489.2:c.865C>T	NP_001309418.1:p.Leu289=
ENST00000325103.10:c.1837C>T	ENSP00000326649.6:p.Leu613=
ENST00000361490.8:c.1837C>T	ENSP00000355310.4:p.Leu613=
ENST00000462743.1:n.305C>T
ENST00000467246.5:n.1976C>T
ENST00000613394.4:c.1837C>T	ENSP00000477926.1:p.Leu613=
ENST00000699112.1:c.1477C>T	ENSP00000514137.1:p.Leu493=
ENST00000699113.1:c.*1193C>T	ENSP00000514138.1:n.*1193C>T
ENST00000699114.1:n.1724C>T
ENST00000699115.1:c.*414C>T	ENSP00000514139.1:n.*414C>T
ENST00000699116.1:n.4305C>T
ENST00000699117.1:n.2489C>T
ENST00000699118.1:c.1450C>T	ENSP00000514140.1:p.Leu484=
ENST00000699119.1:c.*1028C>T	ENSP00000514141.1:n.*1028C>T
ENST00000699120.1:c.*1295C>T	ENSP00000514142.1:n.*1295C>T
ENST00000699121.1:c.*1196C>T	ENSP00000514143.1:n.*1196C>T
ENST00000699122.1:c.1264C>T	ENSP00000514144.1:p.Leu422=
ENST00000699123.1:c.*1605C>T	ENSP00000514145.1:n.*1605C>T
ENST00000699124.1:n.3240C>T
ENST00000699125.1:c.1867C>T	ENSP00000514146.1:p.Leu623=
ENST00000699126.1:n.3818C>T
ENST00000699127.1:n.2164C>T
ENST00000699128.1:c.*954C>T	ENSP00000514147.1:n.*954C>T
ENST00000699129.1:c.*1060C>T	ENSP00000514148.1:n.*1060C>T
ENST00000699130.1:n.3210C>T
ENST00000699131.1:c.1669C>T	ENSP00000514149.1:p.Leu557=
ENST00000699132.1:n.4132C>T
ENST00000699133.1:c.1570C>T	ENSP00000514150.1:p.Leu524=
ENST00000699134.1:c.2095C>T	ENSP00000514151.1:p.Leu699=
ENST00000699135.1:c.*1047C>T	ENSP00000514152.1:n.*1047C>T
ENST00000699136.1:c.1738C>T	ENSP00000514153.1:p.Leu580=
ENST00000699137.1:c.1450C>T	ENSP00000514154.1:p.Leu484=
ENST00000699138.1:c.*1295C>T	ENSP00000514155.1:n.*1295C>T
ENST00000699139.1:c.1576C>T	ENSP00000514156.1:p.Leu526=
ENST00000699140.1:c.1738C>T	ENSP00000514157.1:p.Leu580=
ENST00000699141.1:c.*1273C>T	ENSP00000514158.1:n.*1273C>T
ENST00000699142.1:c.1837C>T	ENSP00000514159.1:p.Leu613=
ENST00000699143.1:c.*1196C>T	ENSP00000514160.1:n.*1196C>T
ENST00000699144.1:c.*1295C>T	ENSP00000514161.1:n.*1295C>T
ENST00000699145.1:c.1837C>T	ENSP00000514162.1:p.Leu613=
ENST00000699146.1:c.1837C>T	ENSP00000514164.1:p.Leu613=
ENST00000699147.1:c.*1295C>T	ENSP00000514165.1:n.*1295C>T
ENST00000699148.1:n.1043C>T
ENST00000699159.1:c.*1196C>T	ENSP00000514167.1:n.*1196C>T
XM_005269755.2:c.1837C>T	XP_005269812.1:p.Leu613=
XM_005269756.2:c.1837C>T	XP_005269813.1:p.Leu613=
XM_005269757.3:c.1837C>T	XP_005269814.1:p.Leu613=
XM_005269757.4:c.1837C>T	XP_005269814.1:p.Leu613=
XM_005269758.1:c.1738C>T	XP_005269815.1:p.Leu580=
XM_005269759.1:c.1468C>T	XP_005269816.1:p.Leu490=
XM_005269760.3:c.865C>T	XP_005269817.1:p.Leu289=
XM_005269761.1:c.865C>T	XP_005269818.1:p.Leu289=
XM_006717818.1:c.1576C>T	XP_006717881.1:p.Leu526=
XM_017016170.1:c.1477C>T	XP_016871659.1:p.Leu493=
XM_017016171.2:c.1369C>T	XP_016871660.1:p.Leu457=
XM_017016172.2:c.865C>T	XP_016871661.1:p.Leu289=
XM_024447971.1:c.1867C>T	XP_024303739.1:p.Leu623=
XM_024447972.1:c.865C>T	XP_024303740.1:p.Leu289=
XR_001747098.1:n.2106C>T
XR_001747099.2:n.2084C>T
XR_001747101.2:n.1985C>T