Canonical Allele Identifier: CA1930889599
Community Standard Title: NM_000195.5(HPS1):c.1996G= (p.Glu666=)
Gene: HPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.98417671C= , CM000672.2:g.98417671C= GRCh38
NC_000010.10:g.100177428C= , CM000672.1:g.100177428C= GRCh37
NC_000010.9:g.100167418C= NCBI36
NG_009646.1:g.34277G=

Transcript Alleles

HGVS Amino-acid Change
NM_000195.5:c.1996G= MANE Select NP_000186.2:p.Glu666=
ENST00000361490.9:c.1996G= MANE Select ENSP00000355310.4:p.Glu666=
NM_000195.3:c.1996G= NP_000186.2:p.Glu666=
NM_000195.4:c.1996G= NP_000186.2:p.Glu666=
NM_001311345.1:c.1024G= NP_001298274.1:p.Glu342=
NM_001311345.2:c.1024G= NP_001298274.1:p.Glu342=
NM_001322476.1:c.1996G= NP_001309405.1:p.Glu666=
NM_001322476.2:c.1996G= NP_001309405.1:p.Glu666=
NM_001322477.1:c.1996G= NP_001309406.1:p.Glu666=
NM_001322477.2:c.1996G= NP_001309406.1:p.Glu666=
NM_001322478.1:c.1897G= NP_001309407.1:p.Glu633=
NM_001322478.2:c.1897G= NP_001309407.1:p.Glu633=
NM_001322479.1:c.1897G= NP_001309408.1:p.Glu633=
NM_001322479.2:c.1897G= NP_001309408.1:p.Glu633=
NM_001322480.1:c.1735G= NP_001309409.1:p.Glu579=
NM_001322480.2:c.1735G= NP_001309409.1:p.Glu579=
NM_001322481.1:c.1735G= NP_001309410.1:p.Glu579=
NM_001322481.2:c.1735G= NP_001309410.1:p.Glu579=
NM_001322482.1:c.1636G= NP_001309411.1:p.Glu546=
NM_001322482.2:c.1636G= NP_001309411.1:p.Glu546=
NM_001322483.1:c.1627G= NP_001309412.1:p.Glu543=
NM_001322483.2:c.1627G= NP_001309412.1:p.Glu543=
NM_001322484.1:c.1627G= NP_001309413.1:p.Glu543=
NM_001322484.2:c.1627G= NP_001309413.1:p.Glu543=
NM_001322485.1:c.1528G= NP_001309414.1:p.Glu510=
NM_001322485.2:c.1528G= NP_001309414.1:p.Glu510=
NM_001322487.1:c.1024G= NP_001309416.1:p.Glu342=
NM_001322487.2:c.1024G= NP_001309416.1:p.Glu342=
NM_001322489.1:c.1024G= NP_001309418.1:p.Glu342=
NM_001322489.2:c.1024G= NP_001309418.1:p.Glu342=
ENST00000325103.10:c.1996G= ENSP00000326649.6:p.Glu666=
ENST00000361490.8:c.1996G= ENSP00000355310.4:p.Glu666=
ENST00000467246.5:n.2135G=
ENST00000613394.4:c.1996G= ENSP00000477926.1:p.Glu666=
ENST00000699112.1:c.1636G= ENSP00000514137.1:p.Glu546=
ENST00000699113.1:c.*1352G= ENSP00000514138.1:n.*1352G=
ENST00000699114.1:n.1883G=
ENST00000699115.1:c.*573G= ENSP00000514139.1:n.*573G=
ENST00000699116.1:n.4464G=
ENST00000699117.1:n.2648G=
ENST00000699118.1:c.1609G= ENSP00000514140.1:p.Glu537=
ENST00000699119.1:c.*1187G= ENSP00000514141.1:n.*1187G=
ENST00000699120.1:c.*1454G= ENSP00000514142.1:n.*1454G=
ENST00000699121.1:c.*1355G= ENSP00000514143.1:n.*1355G=
ENST00000699122.1:c.1423G= ENSP00000514144.1:p.Glu475=
ENST00000699123.1:c.*1764G= ENSP00000514145.1:n.*1764G=
ENST00000699124.1:n.3399G=
ENST00000699125.1:c.2026G= ENSP00000514146.1:p.Glu676=
ENST00000699126.1:n.3977G=
ENST00000699127.1:n.2323G=
ENST00000699128.1:c.*1113G= ENSP00000514147.1:n.*1113G=
ENST00000699129.1:c.*1219G= ENSP00000514148.1:n.*1219G=
ENST00000699130.1:n.3369G=
ENST00000699131.1:c.1828G= ENSP00000514149.1:p.Glu610=
ENST00000699132.1:n.4291G=
ENST00000699133.1:c.1729G= ENSP00000514150.1:p.Glu577=
ENST00000699134.1:c.2254G= ENSP00000514151.1:p.Glu752=
ENST00000699135.1:c.*1206G= ENSP00000514152.1:n.*1206G=
ENST00000699136.1:c.1897G= ENSP00000514153.1:p.Glu633=
ENST00000699137.1:c.1609G= ENSP00000514154.1:p.Glu537=
ENST00000699138.1:c.*1454G= ENSP00000514155.1:n.*1454G=
ENST00000699139.1:c.1735G= ENSP00000514156.1:p.Glu579=
ENST00000699140.1:c.1897G= ENSP00000514157.1:p.Glu633=
ENST00000699141.1:c.*1432G= ENSP00000514158.1:n.*1432G=
ENST00000699142.1:c.1996G= ENSP00000514159.1:p.Glu666=
ENST00000699143.1:c.*1355G= ENSP00000514160.1:n.*1355G=
ENST00000699144.1:c.*1454G= ENSP00000514161.1:n.*1454G=
ENST00000699145.1:c.1996G= ENSP00000514162.1:p.Glu666=
ENST00000699146.1:c.1988+8G= ENSP00000514164.1:n.1988+8G=
ENST00000699147.1:c.*1371G= ENSP00000514165.1:n.*1371G=
ENST00000699159.1:c.*1347+8G= ENSP00000514167.1:n.*1347+8G=
XM_005269755.2:c.1996G= XP_005269812.1:p.Glu666=
XM_005269756.2:c.1996G= XP_005269813.1:p.Glu666=
XM_005269757.3:c.1996G= XP_005269814.1:p.Glu666=
XM_005269757.4:c.1996G= XP_005269814.1:p.Glu666=
XM_005269758.1:c.1897G= XP_005269815.1:p.Glu633=
XM_005269759.1:c.1627G= XP_005269816.1:p.Glu543=
XM_005269760.3:c.1024G= XP_005269817.1:p.Glu342=
XM_005269761.1:c.1024G= XP_005269818.1:p.Glu342=
XM_006717818.1:c.1735G= XP_006717881.1:p.Glu579=
XM_017016170.1:c.1636G= XP_016871659.1:p.Glu546=
XM_017016171.2:c.1528G= XP_016871660.1:p.Glu510=
XM_017016172.2:c.1024G= XP_016871661.1:p.Glu342=
XM_024447971.1:c.2026G= XP_024303739.1:p.Glu676=
XM_024447972.1:c.1024G= XP_024303740.1:p.Glu342=
XR_001747098.1:n.2265G=
XR_001747099.2:n.2243G=
XR_001747101.2:n.2144G=