Canonical Allele Identifier: CA5639312

Gene: HPS1

Linked Data

• ClinVar Variation Id: 1124628
• ClinVar RCV Id: RCV001456093
• dbSNP Id: rs777019283
• ExAC: 10:100190400 G / A
• gnomAD v2: 10-100190400-G-A
• gnomAD v3: 10-98430643-G-A
• gnomAD v4: 10-98430643-G-A
• MyVariant Identifiers: chr10:g.100190400G>A (hg19) ; chr10:g.98430643G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98430643G>A , CM000672.2:g.98430643G>A	GRCh38
NC_000010.10:g.100190400G>A , CM000672.1:g.100190400G>A	GRCh37
NC_000010.9:g.100180390G>A	NCBI36
NG_009646.1:g.21305C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000414009.2:c.696C>T	ENSP00000392462.2:p.Ala232=
ENST00000699112.1:c.435C>T	ENSP00000514137.1:p.Ala145=
ENST00000699113.1:c.*173C>T	ENSP00000514138.1:n.*173C>T
ENST00000699114.1:n.682C>T
ENST00000699115.1:c.696C>T	ENSP00000514139.1:p.Ala232=
ENST00000699116.1:n.597C>T
ENST00000699117.1:n.1447C>T
ENST00000699118.1:c.550+3297C>T	ENSP00000514140.1:n.550+3297C>T
ENST00000699119.1:c.*154C>T	ENSP00000514141.1:n.*154C>T
ENST00000699120.1:c.*154C>T	ENSP00000514142.1:n.*154C>T
ENST00000699121.1:c.*154C>T	ENSP00000514143.1:n.*154C>T
ENST00000699122.1:c.364+3340C>T	ENSP00000514144.1:n.364+3340C>T
ENST00000699123.1:c.*464C>T	ENSP00000514145.1:n.*464C>T
ENST00000699124.1:n.786C>T
ENST00000699125.1:c.578C>T	ENSP00000514146.1:p.Pro193Leu
ENST00000699126.1:n.939C>T
ENST00000699127.1:n.939C>T
ENST00000699128.1:c.696C>T	ENSP00000514147.1:p.Ala232=
ENST00000699129.1:c.696C>T	ENSP00000514148.1:p.Ala232=
ENST00000699130.1:n.939C>T
ENST00000699131.1:c.696C>T	ENSP00000514149.1:p.Ala232=
ENST00000699132.1:n.2162C>T
ENST00000699133.1:c.696C>T	ENSP00000514150.1:p.Ala232=
ENST00000699134.1:c.806C>T	ENSP00000514151.1:p.Pro269Leu
ENST00000699135.1:c.*173C>T	ENSP00000514152.1:n.*173C>T
ENST00000699136.1:c.696C>T	ENSP00000514153.1:p.Ala232=
ENST00000699137.1:c.550+3297C>T	ENSP00000514154.1:n.550+3297C>T
ENST00000699138.1:c.*154C>T	ENSP00000514155.1:n.*154C>T
ENST00000699139.1:c.435C>T	ENSP00000514156.1:p.Ala145=
ENST00000699140.1:c.696C>T	ENSP00000514157.1:p.Ala232=
ENST00000699141.1:c.*154C>T	ENSP00000514158.1:n.*154C>T
ENST00000699142.1:c.696C>T	ENSP00000514159.1:p.Ala232=
ENST00000699143.1:c.*154C>T	ENSP00000514160.1:n.*154C>T
ENST00000699144.1:c.*154C>T	ENSP00000514161.1:n.*154C>T
ENST00000699145.1:c.696C>T	ENSP00000514162.1:p.Ala232=
ENST00000699146.1:c.696C>T	ENSP00000514164.1:p.Ala232=
ENST00000699147.1:c.*154C>T	ENSP00000514165.1:n.*154C>T
ENST00000699149.1:n.939C>T
ENST00000699150.1:n.778C>T
ENST00000699151.1:n.2162C>T
ENST00000699152.1:n.2364C>T
ENST00000699153.1:c.*154C>T	ENSP00000514166.1:n.*154C>T
ENST00000699154.1:n.1074C>T
ENST00000699159.1:c.*154C>T	ENSP00000514167.1:n.*154C>T
ENST00000361490.9:c.696C>T MANE Select	ENSP00000355310.4:p.Ala232=
ENST00000325103.10:c.696C>T	ENSP00000326649.6:p.Ala232=
ENST00000338546.9:c.696C>T	ENSP00000343638.5:p.Ala232=
ENST00000359632.7:c.180C>T	ENSP00000352652.3:p.Ala60=
ENST00000361490.8:c.696C>T	ENSP00000355310.4:p.Ala232=
ENST00000414009.1:c.298C>T
ENST00000467246.5:n.934C>T
ENST00000470095.5:n.180C>T
ENST00000478087.5:n.341C>T
ENST00000480020.5:n.723C>T
ENST00000498219.5:n.573C>T
ENST00000613394.4:c.696C>T	ENSP00000477926.1:p.Ala232=
NM_000195.3:c.696C>T	NP_000186.2:p.Ala232=
NM_000195.4:c.696C>T	NP_000186.2:p.Ala232=
NM_001311345.1:c.-178C>T	NP_001298274.1:n.-178C>T
NM_182639.2:c.696C>T	NP_872577.1:p.Ala232=
NM_182639.3:c.696C>T	NP_872577.1:p.Ala232=
XM_005269755.2:c.696C>T	XP_005269812.1:p.Ala232=
XM_005269756.2:c.696C>T	XP_005269813.1:p.Ala232=
XM_005269757.3:c.696C>T	XP_005269814.1:p.Ala232=
XM_005269758.1:c.696C>T	XP_005269815.1:p.Ala232=
XM_005269759.1:c.327C>T	XP_005269816.1:p.Ala109=
XM_005269760.3:c.-178C>T	XP_005269817.1:n.-178C>T
XM_005269761.1:c.-178C>T	XP_005269818.1:n.-178C>T
XM_006717818.1:c.435C>T	XP_006717881.1:p.Ala145=
NM_001322476.1:c.696C>T	NP_001309405.1:p.Ala232=
NM_001322477.1:c.696C>T	NP_001309406.1:p.Ala232=
NM_001322478.1:c.696C>T	NP_001309407.1:p.Ala232=
NM_001322479.1:c.696C>T	NP_001309408.1:p.Ala232=
NM_001322480.1:c.435C>T	NP_001309409.1:p.Ala145=
NM_001322481.1:c.435C>T	NP_001309410.1:p.Ala145=
NM_001322482.1:c.435C>T	NP_001309411.1:p.Ala145=
NM_001322483.1:c.327C>T	NP_001309412.1:p.Ala109=
NM_001322484.1:c.327C>T	NP_001309413.1:p.Ala109=
NM_001322485.1:c.327C>T	NP_001309414.1:p.Ala109=
NM_001322487.1:c.-277C>T	NP_001309416.1:n.-277C>T
NM_001322489.1:c.-178C>T	NP_001309418.1:n.-178C>T
NM_001322490.1:c.578C>T	NP_001309419.1:p.Pro193Leu
NM_001322491.1:c.696C>T	NP_001309420.1:p.Ala232=
NM_001322492.1:c.578C>T	NP_001309421.1:p.Pro193Leu
XM_005269757.4:c.696C>T	XP_005269814.1:p.Ala232=
XM_017016170.1:c.435C>T	XP_016871659.1:p.Ala145=
XM_017016171.2:c.327C>T	XP_016871660.1:p.Ala109=
XM_017016172.2:c.-178C>T	XP_016871661.1:n.-178C>T
XM_017016173.1:c.578C>T	XP_016871662.1:p.Pro193Leu
XM_024447971.1:c.578C>T	XP_024303739.1:p.Pro193Leu
XM_024447972.1:c.-277C>T	XP_024303740.1:n.-277C>T
XR_001747098.1:n.965C>T
XR_001747099.2:n.965C>T
XR_001747100.2:n.965C>T
XR_001747101.2:n.965C>T
NM_000195.5:c.696C>T MANE Select	NP_000186.2:p.Ala232=
NM_001311345.2:c.-178C>T	NP_001298274.1:n.-178C>T
NM_001322476.2:c.696C>T	NP_001309405.1:p.Ala232=
NM_001322477.2:c.696C>T	NP_001309406.1:p.Ala232=
NM_001322478.2:c.696C>T	NP_001309407.1:p.Ala232=
NM_001322479.2:c.696C>T	NP_001309408.1:p.Ala232=
NM_001322480.2:c.435C>T	NP_001309409.1:p.Ala145=
NM_001322481.2:c.435C>T	NP_001309410.1:p.Ala145=
NM_001322482.2:c.435C>T	NP_001309411.1:p.Ala145=
NM_001322483.2:c.327C>T	NP_001309412.1:p.Ala109=
NM_001322484.2:c.327C>T	NP_001309413.1:p.Ala109=
NM_001322485.2:c.327C>T	NP_001309414.1:p.Ala109=
NM_001322487.2:c.-277C>T	NP_001309416.1:n.-277C>T
NM_001322489.2:c.-178C>T	NP_001309418.1:n.-178C>T
NM_001322490.2:c.578C>T	NP_001309419.1:p.Pro193Leu
NM_001322491.2:c.696C>T	NP_001309420.1:p.Ala232=
NM_001322492.2:c.578C>T	NP_001309421.1:p.Pro193Leu
NM_182639.4:c.696C>T	NP_872577.1:p.Ala232=