Canonical Allele Identifier: CA10610432

Gene: LYST

Linked Data

• ClinVar Variation Id: 296335
• ClinVar RCV Id: RCV000380308
• dbSNP Id: rs77611757
• gnomAD v2: 1-235825555-C-A
• gnomAD v3: 1-235662255-C-A
• gnomAD v4: 1-235662255-C-A
• MyVariant Identifiers: chr1:g.235825555C>A (hg19) ; chr1:g.235662255C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235662255C>A , CM000663.2:g.235662255C>A	GRCh38
NC_000001.10:g.235825555C>A , CM000663.1:g.235825555C>A	GRCh37
NC_000001.9:g.233892178C>A	NCBI36
NG_007397.1:g.226386G>T , LRG_143:g.226386G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462376.2:n.3910G>T
ENST00000697178.1:c.*8077G>T	ENSP00000513163.1:n.*8077G>T
ENST00000697235.1:c.2641G>T	ENSP00000513202.1:n.2641G>T
ENST00000697236.1:c.5555G>T	ENSP00000513203.1:n.5555G>T
ENST00000697237.1:c.2802G>T
ENST00000389793.7:c.*685G>T MANE Select	ENSP00000374443.2:n.*685G>T
ENST00000389793.6:c.*685G>T	ENSP00000374443.2:n.*685G>T
ENST00000389794.7:c.*7515G>T	ENSP00000374444.4:n.*7515G>T
ENST00000473037.5:n.7081G>T
NM_000081.3:c.*685G>T , LRG_143t1:c.*685G>T	NP_000072.2:n.*685G>T
NM_001301365.1:c.*685G>T , LRG_143t2:c.*685G>T	NP_001288294.1:n.*685G>T
XM_011544031.1:c.*685G>T	XP_011542333.1:n.*685G>T
XM_011544032.1:c.*685G>T	XP_011542334.1:n.*685G>T
XM_011544033.1:c.*685G>T	XP_011542335.1:n.*685G>T
XM_011544034.1:c.*685G>T	XP_011542336.1:n.*685G>T
XM_011544036.1:c.*685G>T	XP_011542338.1:n.*685G>T
XM_011544033.2:c.*685G>T	XP_011542335.1:n.*685G>T
XM_011544036.2:c.*685G>T	XP_011542338.1:n.*685G>T
XM_017000150.1:c.*685G>T	XP_016855639.1:n.*685G>T
NM_000081.4:c.*685G>T MANE Select	NP_000072.2:n.*685G>T