Canonical Allele Identifier: CA10609519

Gene: LYST

Linked Data

• ClinVar Variation Id: 296320
• ClinVar RCV Id: RCV000339316
• dbSNP Id: rs886046155
• MyVariant Identifiers: chr1:g.235824448T>C (hg19) ; chr1:g.235661148T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235661148T>C , CM000663.2:g.235661148T>C	GRCh38
NC_000001.10:g.235824448T>C , CM000663.1:g.235824448T>C	GRCh37
NC_000001.9:g.233891071T>C	NCBI36
NG_007397.1:g.227493A>G , LRG_143:g.227493A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462376.2:n.5017A>G
ENST00000697178.1:c.*9184A>G	ENSP00000513163.1:n.*9184A>G
ENST00000697235.1:c.3748A>G	ENSP00000513202.1:n.3748A>G
ENST00000697236.1:c.6662A>G	ENSP00000513203.1:n.6662A>G
ENST00000697237.1:c.3909A>G
ENST00000389793.7:c.*1792A>G MANE Select	ENSP00000374443.2:n.*1792A>G
ENST00000389793.6:c.*1792A>G	ENSP00000374443.2:n.*1792A>G
ENST00000389794.7:c.*8559A>G	ENSP00000374444.4:n.*8559A>G
ENST00000473037.5:n.8188A>G
NM_000081.3:c.*1792A>G , LRG_143t1:c.*1792A>G	NP_000072.2:n.*1792A>G
NM_001301365.1:c.*1792A>G , LRG_143t2:c.*1792A>G	NP_001288294.1:n.*1792A>G
XM_011544031.1:c.*1792A>G	XP_011542333.1:n.*1792A>G
XM_011544032.1:c.*1792A>G	XP_011542334.1:n.*1792A>G
XM_011544033.1:c.*1792A>G	XP_011542335.1:n.*1792A>G
XM_011544034.1:c.*1792A>G	XP_011542336.1:n.*1792A>G
XM_011544036.1:c.*1792A>G	XP_011542338.1:n.*1792A>G
XM_011544033.2:c.*1792A>G	XP_011542335.1:n.*1792A>G
XM_011544036.2:c.*1792A>G	XP_011542338.1:n.*1792A>G
XM_017000150.1:c.*1792A>G	XP_016855639.1:n.*1792A>G
NM_000081.4:c.*1792A>G MANE Select	NP_000072.2:n.*1792A>G