Canonical Allele Identifier: CA116447
Gene: LYST HGNC NCBI

Linked Data

ClinVar Variation Id: 3810
ClinVar RCV Id: RCV000004014 RCV000055720
dbSNP Id: rs80338642
MyVariant Identifiers: chr1:g.235993599_235993600insC (hg19) chr1:g.235830299_235830300insC (hg38)
PubMed: PMID:8717042 PMID:8896560 PMID:20301751
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235830301dup , CM000663.2:g.235830301dup GRCh38
NC_000001.10:g.235993601dup , CM000663.1:g.235993601dup GRCh37
NC_000001.9:g.234060224dup NCBI36
NG_007397.1:g.58341dup , LRG_143:g.58341dup

Transcript Alleles

HGVS Amino-acid change
ENST00000697178.1:c.118dup ENSP00000513163.1:p.Ala40GlyfsTer24
ENST00000697181.1:c.118dup ENSP00000513168.1:p.Ala40GlyfsTer24
ENST00000697182.1:c.118dup ENSP00000513169.1:p.Ala40GlyfsTer24
ENST00000697183.1:c.118dup ENSP00000513170.1:p.Ala40GlyfsTer24
ENST00000697184.1:c.118dup ENSP00000513171.1:p.Ala40GlyfsTer24
ENST00000697242.1:c.118dup ENSP00000513207.1:p.Ala40GlyfsTer24
ENST00000389793.7:c.118dup MANE Select ENSP00000374443.2:p.Ala40GlyfsTer24
ENST00000389793.6:c.118dup ENSP00000374443.2:p.Ala40GlyfsTer24
ENST00000389794.7:c.118dup ENSP00000374444.4:p.Ala40GlyfsTer24
ENST00000465349.5:n.669dup
ENST00000468107.5:n.645dup
ENST00000468626.2:n.249dup
ENST00000489585.5:n.669dup
NM_000081.3:c.118dup , LRG_143t1:c.118dup NP_000072.2:p.Ala40GlyfsTer24
NM_001301365.1:c.118dup , LRG_143t2:c.118dup NP_001288294.1:p.Ala40GlyfsTer24
NR_102436.2:n.737dup
XM_011544031.1:c.118dup XP_011542333.1:p.Ala40GlyfsTer24
XM_011544032.1:c.118dup XP_011542334.1:p.Ala40GlyfsTer24
XM_011544033.1:c.118dup XP_011542335.1:p.Ala40GlyfsTer24
XM_011544034.1:c.118dup XP_011542336.1:p.Ala40GlyfsTer24
XM_011544035.1:c.118dup XP_011542337.1:p.Ala40GlyfsTer24
XM_011544037.1:c.118dup XP_011542339.1:p.Ala40GlyfsTer24
XM_011544038.1:c.118dup XP_011542340.1:p.Ala40GlyfsTer24
XM_011544039.1:c.118dup XP_011542341.1:p.Ala40GlyfsTer24
XM_011544040.1:c.118dup XP_011542342.1:p.Ala40GlyfsTer24
XM_011544033.2:c.118dup XP_011542335.1:p.Ala40GlyfsTer24
XM_011544035.2:c.118dup XP_011542337.1:p.Ala40GlyfsTer24
XM_011544037.2:c.118dup XP_011542339.1:p.Ala40GlyfsTer24
XM_011544039.2:c.118dup XP_011542341.1:p.Ala40GlyfsTer24
XM_017000150.1:c.118dup XP_016855639.1:p.Ala40GlyfsTer24
XM_017000151.1:c.118dup XP_016855640.1:p.Ala40GlyfsTer24
XR_001736946.2:n.300dup
XR_001736947.1:n.300dup
XR_001736948.1:n.300dup
XR_002959252.1:n.300dup
NM_000081.4:c.118dup MANE Select NP_000072.2:p.Ala40GlyfsTer24
NR_102436.3:n.742dup
Search 100 bp 5'
Search 100 bp 3'