Canonical Allele Identifier: CA1466767

Gene: LYST

Linked Data

• ClinVar Variation Id: 296395
• ClinVar RCV Id: RCV000309417 ; RCV000788549 ; RCV002262932 ; RCV003940114 ; RCV004021440
• dbSNP Id: rs767687843
• ExAC: 1:235950657 T / G
• gnomAD v2: 1-235950657-T-G
• gnomAD v3: 1-235787357-T-G
• gnomAD v4: 1-235787357-T-G
• MyVariant Identifiers: chr1:g.235950657T>G (hg19) ; chr1:g.235787357T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235787357T>G , CM000663.2:g.235787357T>G	GRCh38
NC_000001.10:g.235950657T>G , CM000663.1:g.235950657T>G	GRCh37
NC_000001.9:g.234017280T>G	NCBI36
NG_007397.1:g.101284A>C , LRG_143:g.101284A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697178.1:c.*129A>C	ENSP00000513163.1:n.*129A>C
ENST00000389793.7:c.4705A>C MANE Select	ENSP00000374443.2:p.Asn1569His
ENST00000389793.6:c.4705A>C	ENSP00000374443.2:p.Asn1569His
ENST00000389794.7:c.*129A>C	ENSP00000374444.4:n.*129A>C
ENST00000489585.5:n.5256A>C
ENST00000492844.1:n.165A>C
NM_000081.3:c.4705A>C , LRG_143t1:c.4705A>C	NP_000072.2:p.Asn1569His
NM_001301365.1:c.4705A>C , LRG_143t2:c.4705A>C	NP_001288294.1:p.Asn1569His
XM_011544031.1:c.4705A>C	XP_011542333.1:p.Asn1569His
XM_011544032.1:c.4705A>C	XP_011542334.1:p.Asn1569His
XM_011544033.1:c.4705A>C	XP_011542335.1:p.Asn1569His
XM_011544034.1:c.4705A>C	XP_011542336.1:p.Asn1569His
XM_011544035.1:c.4705A>C	XP_011542337.1:p.Asn1569His
XM_011544036.1:c.2368A>C	XP_011542338.1:p.Asn790His
XM_011544037.1:c.4705A>C	XP_011542339.1:p.Asn1569His
XM_011544038.1:c.4705A>C	XP_011542340.1:p.Asn1569His
XM_011544039.1:c.4705A>C	XP_011542341.1:p.Asn1569His
XM_011544040.1:c.4705A>C	XP_011542342.1:p.Asn1569His
XM_011544033.2:c.4705A>C	XP_011542335.1:p.Asn1569His
XM_011544035.2:c.4705A>C	XP_011542337.1:p.Asn1569His
XM_011544036.2:c.2368A>C	XP_011542338.1:p.Asn790His
XM_011544037.2:c.4705A>C	XP_011542339.1:p.Asn1569His
XM_011544039.2:c.4705A>C	XP_011542341.1:p.Asn1569His
XM_017000150.1:c.4705A>C	XP_016855639.1:p.Asn1569His
XM_017000151.1:c.4705A>C	XP_016855640.1:p.Asn1569His
XR_001736946.2:n.4887A>C
XR_001736947.1:n.4887A>C
XR_001736948.1:n.4887A>C
XR_002959252.1:n.4887A>C
NM_000081.4:c.4705A>C MANE Select	NP_000072.2:p.Asn1569His