Canonical Allele Identifier: CA1465352

Gene: LYST

Linked Data

• ClinVar Variation Id: 296354
• ClinVar RCV Id: RCV000375875 ; RCV001770233
• dbSNP Id: rs138936105
• ExAC: 1:235860421 C / T
• gnomAD v2: 1-235860421-C-T
• gnomAD v3: 1-235697121-C-T
• gnomAD v4: 1-235697121-C-T
• MyVariant Identifiers: chr1:g.235860421C>T (hg19) ; chr1:g.235697121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235697121C>T , CM000663.2:g.235697121C>T	GRCh38
NC_000001.10:g.235860421C>T , CM000663.1:g.235860421C>T	GRCh37
NC_000001.9:g.233927044C>T	NCBI36
NG_007397.1:g.191520G>A , LRG_143:g.191520G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462376.2:n.1936G>A
ENST00000697178.1:c.*6221G>A	ENSP00000513163.1:n.*6221G>A
ENST00000697179.1:n.3235G>A
ENST00000697235.1:c.1076G>A	ENSP00000513202.1:p.Arg359Gln
ENST00000697236.1:c.3990G>A	ENSP00000513203.1:n.3990G>A
ENST00000697237.1:c.1237G>A
ENST00000697240.1:c.2660G>A	ENSP00000513205.1:p.Arg887Gln
ENST00000389793.7:c.10526G>A MANE Select	ENSP00000374443.2:p.Arg3509Gln
ENST00000389793.6:c.10526G>A	ENSP00000374443.2:p.Arg3509Gln
ENST00000389794.7:c.*5950G>A	ENSP00000374444.4:n.*5950G>A
ENST00000473037.5:n.5516G>A
NM_000081.3:c.10526G>A , LRG_143t1:c.10526G>A	NP_000072.2:p.Arg3509Gln
NM_001301365.1:c.10526G>A , LRG_143t2:c.10526G>A	NP_001288294.1:p.Arg3509Gln
XM_011544031.1:c.10688G>A	XP_011542333.1:p.Arg3563Gln
XM_011544032.1:c.10688G>A	XP_011542334.1:p.Arg3563Gln
XM_011544033.1:c.10688G>A	XP_011542335.1:p.Arg3563Gln
XM_011544034.1:c.10550G>A	XP_011542336.1:p.Arg3517Gln
XM_011544036.1:c.8351G>A	XP_011542338.1:p.Arg2784Gln
XM_011544033.2:c.10688G>A	XP_011542335.1:p.Arg3563Gln
XM_011544036.2:c.8351G>A	XP_011542338.1:p.Arg2784Gln
XM_017000150.1:c.10457G>A	XP_016855639.1:p.Arg3486Gln
NM_000081.4:c.10526G>A MANE Select	NP_000072.2:p.Arg3509Gln