Canonical Allele Identifier: CA10609527

Gene: LYST

Linked Data

• ClinVar Variation Id: 296339
• ClinVar RCV Id: RCV000282173
• dbSNP Id: rs189700601
• gnomAD v2: 1-235825993-C-A
• gnomAD v3: 1-235662693-C-A
• gnomAD v4: 1-235662693-C-A
• MyVariant Identifiers: chr1:g.235825993C>A (hg19) ; chr1:g.235662693C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235662693C>A , CM000663.2:g.235662693C>A	GRCh38
NC_000001.10:g.235825993C>A , CM000663.1:g.235825993C>A	GRCh37
NC_000001.9:g.233892616C>A	NCBI36
NG_007397.1:g.225948G>T , LRG_143:g.225948G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462376.2:n.3472G>T
ENST00000697178.1:c.*7639G>T	ENSP00000513163.1:n.*7639G>T
ENST00000697235.1:c.2203G>T	ENSP00000513202.1:n.2203G>T
ENST00000697236.1:c.5117G>T	ENSP00000513203.1:n.5117G>T
ENST00000697237.1:c.2364G>T
ENST00000697238.1:n.807G>T
ENST00000697239.1:n.1047G>T
ENST00000697240.1:c.3720G>T	ENSP00000513205.1:n.3720G>T
ENST00000389793.7:c.*247G>T MANE Select	ENSP00000374443.2:n.*247G>T
ENST00000389793.6:c.*247G>T	ENSP00000374443.2:n.*247G>T
ENST00000389794.7:c.*7077G>T	ENSP00000374444.4:n.*7077G>T
ENST00000473037.5:n.6643G>T
NM_000081.3:c.*247G>T , LRG_143t1:c.*247G>T	NP_000072.2:n.*247G>T
NM_001301365.1:c.*247G>T , LRG_143t2:c.*247G>T	NP_001288294.1:n.*247G>T
XM_011544031.1:c.*247G>T	XP_011542333.1:n.*247G>T
XM_011544032.1:c.*247G>T	XP_011542334.1:n.*247G>T
XM_011544033.1:c.*247G>T	XP_011542335.1:n.*247G>T
XM_011544034.1:c.*247G>T	XP_011542336.1:n.*247G>T
XM_011544036.1:c.*247G>T	XP_011542338.1:n.*247G>T
XM_011544033.2:c.*247G>T	XP_011542335.1:n.*247G>T
XM_011544036.2:c.*247G>T	XP_011542338.1:n.*247G>T
XM_017000150.1:c.*247G>T	XP_016855639.1:n.*247G>T
NM_000081.4:c.*247G>T MANE Select	NP_000072.2:n.*247G>T