Canonical Allele Identifier: CA1466365

Gene: LYST

Linked Data

• ClinVar Variation Id: 254931
• ClinVar RCV Id: RCV000246972 ; RCV000321335 ; RCV000584895 ; RCV002262867
• dbSNP Id: rs147756847
• ExAC: 1:235922671 T / G
• gnomAD v2: 1-235922671-T-G
• gnomAD v3: 1-235759371-T-G
• gnomAD v4: 1-235759371-T-G
• MyVariant Identifiers: chr1:g.235922671T>G (hg19) ; chr1:g.235759371T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235759371T>G , CM000663.2:g.235759371T>G	GRCh38
NC_000001.10:g.235922671T>G , CM000663.1:g.235922671T>G	GRCh37
NC_000001.9:g.233989294T>G	NCBI36
NG_007397.1:g.129270A>C , LRG_143:g.129270A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461526.2:c.1157A>C	ENSP00000513165.1:p.Glu386Ala
ENST00000697178.1:c.*1906A>C	ENSP00000513163.1:n.*1906A>C
ENST00000697236.1:c.191A>C	ENSP00000513203.1:p.Glu64Ala
ENST00000697241.1:c.914A>C	ENSP00000513206.1:p.Glu305Ala
ENST00000389793.7:c.6482A>C MANE Select	ENSP00000374443.2:p.Glu2161Ala
ENST00000389793.6:c.6482A>C	ENSP00000374443.2:p.Glu2161Ala
ENST00000389794.7:c.*1906A>C	ENSP00000374444.4:n.*1906A>C
ENST00000489585.5:n.6873A>C
NM_000081.3:c.6482A>C , LRG_143t1:c.6482A>C	NP_000072.2:p.Glu2161Ala
NM_001301365.1:c.6482A>C , LRG_143t2:c.6482A>C	NP_001288294.1:p.Glu2161Ala
XM_011544031.1:c.6482A>C	XP_011542333.1:p.Glu2161Ala
XM_011544032.1:c.6482A>C	XP_011542334.1:p.Glu2161Ala
XM_011544033.1:c.6482A>C	XP_011542335.1:p.Glu2161Ala
XM_011544034.1:c.6344A>C	XP_011542336.1:p.Glu2115Ala
XM_011544035.1:c.6482A>C	XP_011542337.1:p.Glu2161Ala
XM_011544036.1:c.4145A>C	XP_011542338.1:p.Glu1382Ala
XM_011544037.1:c.6482A>C	XP_011542339.1:p.Glu2161Ala
XM_011544038.1:c.6482A>C	XP_011542340.1:p.Glu2161Ala
XM_011544039.1:c.6482A>C	XP_011542341.1:p.Glu2161Ala
XM_011544033.2:c.6482A>C	XP_011542335.1:p.Glu2161Ala
XM_011544035.2:c.6482A>C	XP_011542337.1:p.Glu2161Ala
XM_011544036.2:c.4145A>C	XP_011542338.1:p.Glu1382Ala
XM_011544037.2:c.6482A>C	XP_011542339.1:p.Glu2161Ala
XM_011544039.2:c.6482A>C	XP_011542341.1:p.Glu2161Ala
XM_017000150.1:c.6482A>C	XP_016855639.1:p.Glu2161Ala
XR_001736946.2:n.6664A>C
XR_001736947.1:n.6664A>C
XR_001736948.1:n.6664A>C
NM_000081.4:c.6482A>C MANE Select	NP_000072.2:p.Glu2161Ala