Canonical Allele Identifier: CA344956633

Gene: LYST

Linked Data

• ClinVar Variation Id: 2164098
• ClinVar RCV Id: RCV003092673
• dbSNP Id: rs1190153122
• gnomAD v2: 1-235969869-G-A
• gnomAD v4: 1-235806569-G-A
• MyVariant Identifiers: chr1:g.235969869G>A (hg19) ; chr1:g.235806569G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235806569G>A , CM000663.2:g.235806569G>A	GRCh38
NC_000001.10:g.235969869G>A , CM000663.1:g.235969869G>A	GRCh37
NC_000001.9:g.234036492G>A	NCBI36
NG_007397.1:g.82072C>T , LRG_143:g.82072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697178.1:c.2567C>T	ENSP00000513163.1:p.Thr856Ile
ENST00000697242.1:c.1970C>T	ENSP00000513207.1:p.Thr657Ile
ENST00000389793.7:c.2567C>T MANE Select	ENSP00000374443.2:p.Thr856Ile
ENST00000389793.6:c.2567C>T	ENSP00000374443.2:p.Thr856Ile
ENST00000389794.7:c.2567C>T	ENSP00000374444.4:p.Thr856Ile
ENST00000465349.5:n.3118C>T
ENST00000489585.5:n.3118C>T
NM_000081.3:c.2567C>T , LRG_143t1:c.2567C>T	NP_000072.2:p.Thr856Ile
NM_001301365.1:c.2567C>T , LRG_143t2:c.2567C>T	NP_001288294.1:p.Thr856Ile
XM_011544031.1:c.2567C>T	XP_011542333.1:p.Thr856Ile
XM_011544032.1:c.2567C>T	XP_011542334.1:p.Thr856Ile
XM_011544033.1:c.2567C>T	XP_011542335.1:p.Thr856Ile
XM_011544034.1:c.2567C>T	XP_011542336.1:p.Thr856Ile
XM_011544035.1:c.2567C>T	XP_011542337.1:p.Thr856Ile
XM_011544036.1:c.230C>T	XP_011542338.1:p.Thr77Ile
XM_011544037.1:c.2567C>T	XP_011542339.1:p.Thr856Ile
XM_011544038.1:c.2567C>T	XP_011542340.1:p.Thr856Ile
XM_011544039.1:c.2567C>T	XP_011542341.1:p.Thr856Ile
XM_011544040.1:c.2567C>T	XP_011542342.1:p.Thr856Ile
XM_011544033.2:c.2567C>T	XP_011542335.1:p.Thr856Ile
XM_011544035.2:c.2567C>T	XP_011542337.1:p.Thr856Ile
XM_011544036.2:c.230C>T	XP_011542338.1:p.Thr77Ile
XM_011544037.2:c.2567C>T	XP_011542339.1:p.Thr856Ile
XM_011544039.2:c.2567C>T	XP_011542341.1:p.Thr856Ile
XM_017000150.1:c.2567C>T	XP_016855639.1:p.Thr856Ile
XM_017000151.1:c.2567C>T	XP_016855640.1:p.Thr856Ile
XR_001736946.2:n.2749C>T
XR_001736947.1:n.2749C>T
XR_001736948.1:n.2749C>T
XR_002959252.1:n.2749C>T
NM_000081.4:c.2567C>T MANE Select	NP_000072.2:p.Thr856Ile