Canonical Allele Identifier: CA5639309
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289325
ClinVar RCV Id: RCV000330842
dbSNP Id: rs150444975

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.98430639G>A , CM000672.2:g.98430639G>A GRCh38
NC_000010.10:g.100190396G>A , CM000672.1:g.100190396G>A GRCh37
NC_000010.9:g.100180386G>A NCBI36
NG_009646.1:g.21309C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361490.9:c.700C>T MANE Select ENSP00000355310.4:p.Leu234=
ENST00000325103.10:c.700C>T ENSP00000326649.6:p.Leu234=
ENST00000338546.9:c.700C>T ENSP00000343638.5:p.Leu234=
ENST00000359632.7:n.184C>T ENSP00000352652.3:p.Leu62=
ENST00000361490.8:c.700C>T ENSP00000355310.4:p.Leu234=
ENST00000414009.1:n.302C>T
ENST00000467246.5:n.938C>T
ENST00000470095.5:n.184C>T
ENST00000478087.5:n.345C>T
ENST00000480020.5:n.727C>T
ENST00000498219.5:n.577C>T
ENST00000613394.4:c.700C>T ENSP00000477926.1:p.Leu234=
NM_000195.3:c.700C>T NP_000186.2:p.Leu234=
NM_000195.4:c.700C>T NP_000186.2:p.Leu234=
NM_001311345.1:c.-174C>T NP_001298274.1:p.=
NM_182639.2:c.700C>T NP_872577.1:p.Leu234=
NM_182639.3:c.700C>T NP_872577.1:p.Leu234=
XM_005269755.2:c.700C>T XP_005269812.1:p.Leu234=
XM_005269756.2:c.700C>T XP_005269813.1:p.Leu234=
XM_005269757.3:c.700C>T XP_005269814.1:p.Leu234=
XM_005269758.1:c.700C>T XP_005269815.1:p.Leu234=
XM_005269759.1:c.331C>T XP_005269816.1:p.Leu111=
XM_005269760.3:c.-174C>T XP_005269817.1:p.=
XM_005269761.1:c.-174C>T XP_005269818.1:p.=
XM_006717818.1:c.439C>T XP_006717881.1:p.Leu147=
NM_001322476.1:c.700C>T NP_001309405.1:p.Leu234=
NM_001322477.1:c.700C>T NP_001309406.1:p.Leu234=
NM_001322478.1:c.700C>T NP_001309407.1:p.Leu234=
NM_001322479.1:c.700C>T NP_001309408.1:p.Leu234=
NM_001322480.1:c.439C>T NP_001309409.1:p.Leu147=
NM_001322481.1:c.439C>T NP_001309410.1:p.Leu147=
NM_001322482.1:c.439C>T NP_001309411.1:p.Leu147=
NM_001322483.1:c.331C>T NP_001309412.1:p.Leu111=
NM_001322484.1:c.331C>T NP_001309413.1:p.Leu111=
NM_001322485.1:c.331C>T NP_001309414.1:p.Leu111=
NM_001322487.1:c.-273C>T NP_001309416.1:p.=
NM_001322489.1:c.-174C>T NP_001309418.1:p.=
NM_001322490.1:c.582C>T NP_001309419.1:p.Thr194=
NM_001322491.1:c.700C>T NP_001309420.1:p.Leu234=
NM_001322492.1:c.582C>T NP_001309421.1:p.Thr194=
XM_005269757.4:c.700C>T XP_005269814.1:p.Leu234=
XM_017016170.1:c.439C>T XP_016871659.1:p.Leu147=
XM_017016171.2:c.331C>T XP_016871660.1:p.Leu111=
XM_017016172.2:c.-174C>T XP_016871661.1:p.=
XM_017016173.1:c.582C>T XP_016871662.1:p.Thr194=
XM_024447971.1:c.582C>T XP_024303739.1:p.Thr194=
XM_024447972.1:c.-273C>T XP_024303740.1:p.=
XR_001747098.1:n.969C>T
XR_001747099.2:n.969C>T
XR_001747100.2:n.969C>T
XR_001747101.2:n.969C>T
NM_000195.5:c.700C>T MANE Select NP_000186.2:p.Leu234=
NM_001311345.2:c.-174C>T NP_001298274.1:p.=
NM_001322476.2:c.700C>T NP_001309405.1:p.Leu234=
NM_001322477.2:c.700C>T NP_001309406.1:p.Leu234=
NM_001322478.2:c.700C>T NP_001309407.1:p.Leu234=
NM_001322479.2:c.700C>T NP_001309408.1:p.Leu234=
NM_001322480.2:c.439C>T NP_001309409.1:p.Leu147=
NM_001322481.2:c.439C>T NP_001309410.1:p.Leu147=
NM_001322482.2:c.439C>T NP_001309411.1:p.Leu147=
NM_001322483.2:c.331C>T NP_001309412.1:p.Leu111=
NM_001322484.2:c.331C>T NP_001309413.1:p.Leu111=
NM_001322485.2:c.331C>T NP_001309414.1:p.Leu111=
NM_001322487.2:c.-273C>T NP_001309416.1:p.=
NM_001322489.2:c.-174C>T NP_001309418.1:p.=
NM_001322490.2:c.582C>T NP_001309419.1:p.Thr194=
NM_001322491.2:c.700C>T NP_001309420.1:p.Leu234=
NM_001322492.2:c.582C>T NP_001309421.1:p.Thr194=
NM_182639.4:c.700C>T NP_872577.1:p.Leu234=