Canonical Allele Identifier: CA10610395

Gene: LYST

Linked Data

• ClinVar Variation Id: 296318
• ClinVar RCV Id: RCV000382556
• dbSNP Id: rs886046154
• gnomAD v3: 1-235661079-G-T
• gnomAD v4: 1-235661079-G-T
• MyVariant Identifiers: chr1:g.235824379G>T (hg19) ; chr1:g.235661079G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235661079G>T , CM000663.2:g.235661079G>T	GRCh38
NC_000001.10:g.235824379G>T , CM000663.1:g.235824379G>T	GRCh37
NC_000001.9:g.233891002G>T	NCBI36
NG_007397.1:g.227562C>A , LRG_143:g.227562C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462376.2:n.5086C>A
ENST00000697178.1:c.*9253C>A	ENSP00000513163.1:n.*9253C>A
ENST00000389793.7:c.*1861C>A MANE Select	ENSP00000374443.2:n.*1861C>A
ENST00000389793.6:c.*1861C>A	ENSP00000374443.2:n.*1861C>A
ENST00000389794.7:c.*8628C>A	ENSP00000374444.4:n.*8628C>A
ENST00000473037.5:n.8257C>A
NM_000081.3:c.*1861C>A , LRG_143t1:c.*1861C>A	NP_000072.2:n.*1861C>A
NM_001301365.1:c.*1861C>A , LRG_143t2:c.*1861C>A	NP_001288294.1:n.*1861C>A
XM_011544031.1:c.*1861C>A	XP_011542333.1:n.*1861C>A
XM_011544032.1:c.*1861C>A	XP_011542334.1:n.*1861C>A
XM_011544033.1:c.*1861C>A	XP_011542335.1:n.*1861C>A
XM_011544034.1:c.*1861C>A	XP_011542336.1:n.*1861C>A
XM_011544036.1:c.*1861C>A	XP_011542338.1:n.*1861C>A
XM_011544033.2:c.*1861C>A	XP_011542335.1:n.*1861C>A
XM_011544036.2:c.*1861C>A	XP_011542338.1:n.*1861C>A
XM_017000150.1:c.*1861C>A	XP_016855639.1:n.*1861C>A
NM_000081.4:c.*1861C>A MANE Select	NP_000072.2:n.*1861C>A