Canonical Allele Identifier: CA344940870

Gene: LYST

Linked Data

• dbSNP Id: rs1667345720
• gnomAD v4: 1-235759285-C-T
• MyVariant Identifiers: chr1:g.235922585C>T (hg19) ; chr1:g.235759285C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235759285C>T , CM000663.2:g.235759285C>T	GRCh38
NC_000001.10:g.235922585C>T , CM000663.1:g.235922585C>T	GRCh37
NC_000001.9:g.233989208C>T	NCBI36
NG_007397.1:g.129356G>A , LRG_143:g.129356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461526.2:c.1243G>A	ENSP00000513165.1:p.Val415Ile
ENST00000697178.1:c.*1992G>A	ENSP00000513163.1:n.*1992G>A
ENST00000697236.1:c.277G>A	ENSP00000513203.1:p.Val93Ile
ENST00000697241.1:c.1000G>A	ENSP00000513206.1:p.Val334Ile
ENST00000389793.7:c.6568G>A MANE Select	ENSP00000374443.2:p.Val2190Ile
ENST00000389793.6:c.6568G>A	ENSP00000374443.2:p.Val2190Ile
ENST00000389794.7:c.*1992G>A	ENSP00000374444.4:n.*1992G>A
ENST00000489585.5:n.6959G>A
NM_000081.3:c.6568G>A , LRG_143t1:c.6568G>A	NP_000072.2:p.Val2190Ile
NM_001301365.1:c.6568G>A , LRG_143t2:c.6568G>A	NP_001288294.1:p.Val2190Ile
XM_011544031.1:c.6568G>A	XP_011542333.1:p.Val2190Ile
XM_011544032.1:c.6568G>A	XP_011542334.1:p.Val2190Ile
XM_011544033.1:c.6568G>A	XP_011542335.1:p.Val2190Ile
XM_011544034.1:c.6430G>A	XP_011542336.1:p.Val2144Ile
XM_011544035.1:c.6568G>A	XP_011542337.1:p.Val2190Ile
XM_011544036.1:c.4231G>A	XP_011542338.1:p.Val1411Ile
XM_011544037.1:c.6568G>A	XP_011542339.1:p.Val2190Ile
XM_011544038.1:c.6568G>A	XP_011542340.1:p.Val2190Ile
XM_011544039.1:c.6568G>A	XP_011542341.1:p.Val2190Ile
XM_011544033.2:c.6568G>A	XP_011542335.1:p.Val2190Ile
XM_011544035.2:c.6568G>A	XP_011542337.1:p.Val2190Ile
XM_011544036.2:c.4231G>A	XP_011542338.1:p.Val1411Ile
XM_011544037.2:c.6568G>A	XP_011542339.1:p.Val2190Ile
XM_011544039.2:c.6568G>A	XP_011542341.1:p.Val2190Ile
XM_017000150.1:c.6568G>A	XP_016855639.1:p.Val2190Ile
XR_001736946.2:n.6750G>A
XR_001736947.1:n.6750G>A
XR_001736948.1:n.6750G>A
NM_000081.4:c.6568G>A MANE Select	NP_000072.2:p.Val2190Ile