Canonical Allele Identifier: CA1467284

Gene: LYST

Linked Data

• ClinVar Variation Id: 1501363
• ClinVar RCV Id: RCV002017408 ; RCV002642134
• dbSNP Id: rs762160809
• ExAC: 1:235970023 C / T
• gnomAD v2: 1-235970023-C-T
• gnomAD v3: 1-235806723-C-T
• gnomAD v4: 1-235806723-C-T
• COSMIC: COSM210418
• MyVariant Identifiers: chr1:g.235970023C>T (hg19) ; chr1:g.235806723C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235806723C>T , CM000663.2:g.235806723C>T	GRCh38
NC_000001.10:g.235970023C>T , CM000663.1:g.235970023C>T	GRCh37
NC_000001.9:g.234036646C>T	NCBI36
NG_007397.1:g.81918G>A , LRG_143:g.81918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697178.1:c.2413G>A	ENSP00000513163.1:p.Glu805Lys
ENST00000697242.1:c.1816G>A	ENSP00000513207.1:p.Glu606Lys
ENST00000389793.7:c.2413G>A MANE Select	ENSP00000374443.2:p.Glu805Lys
ENST00000389793.6:c.2413G>A	ENSP00000374443.2:p.Glu805Lys
ENST00000389794.7:c.2413G>A	ENSP00000374444.4:p.Glu805Lys
ENST00000465349.5:n.2964G>A
ENST00000489585.5:n.2964G>A
NM_000081.3:c.2413G>A , LRG_143t1:c.2413G>A	NP_000072.2:p.Glu805Lys
NM_001301365.1:c.2413G>A , LRG_143t2:c.2413G>A	NP_001288294.1:p.Glu805Lys
XM_011544031.1:c.2413G>A	XP_011542333.1:p.Glu805Lys
XM_011544032.1:c.2413G>A	XP_011542334.1:p.Glu805Lys
XM_011544033.1:c.2413G>A	XP_011542335.1:p.Glu805Lys
XM_011544034.1:c.2413G>A	XP_011542336.1:p.Glu805Lys
XM_011544035.1:c.2413G>A	XP_011542337.1:p.Glu805Lys
XM_011544036.1:c.76G>A	XP_011542338.1:p.Glu26Lys
XM_011544037.1:c.2413G>A	XP_011542339.1:p.Glu805Lys
XM_011544038.1:c.2413G>A	XP_011542340.1:p.Glu805Lys
XM_011544039.1:c.2413G>A	XP_011542341.1:p.Glu805Lys
XM_011544040.1:c.2413G>A	XP_011542342.1:p.Glu805Lys
XM_011544033.2:c.2413G>A	XP_011542335.1:p.Glu805Lys
XM_011544035.2:c.2413G>A	XP_011542337.1:p.Glu805Lys
XM_011544036.2:c.76G>A	XP_011542338.1:p.Glu26Lys
XM_011544037.2:c.2413G>A	XP_011542339.1:p.Glu805Lys
XM_011544039.2:c.2413G>A	XP_011542341.1:p.Glu805Lys
XM_017000150.1:c.2413G>A	XP_016855639.1:p.Glu805Lys
XM_017000151.1:c.2413G>A	XP_016855640.1:p.Glu805Lys
XR_001736946.2:n.2595G>A
XR_001736947.1:n.2595G>A
XR_001736948.1:n.2595G>A
XR_002959252.1:n.2595G>A
NM_000081.4:c.2413G>A MANE Select	NP_000072.2:p.Glu805Lys