Canonical Allele Identifier: CA1466462

Gene: LYST

Linked Data

• dbSNP Id: rs376038014
• ExAC: 1:235929404 C / A
• gnomAD v2: 1-235929404-C-A
• gnomAD v3: 1-235766104-C-A
• gnomAD v4: 1-235766104-C-A
• MyVariant Identifiers: chr1:g.235929404C>A (hg19) ; chr1:g.235766104C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235766104C>A , CM000663.2:g.235766104C>A	GRCh38
NC_000001.10:g.235929404C>A , CM000663.1:g.235929404C>A	GRCh37
NC_000001.9:g.233996027C>A	NCBI36
NG_007397.1:g.122537G>T , LRG_143:g.122537G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461526.2:c.771G>T	ENSP00000513165.1:p.Thr257=
ENST00000697178.1:c.*1520G>T	ENSP00000513163.1:n.*1520G>T
ENST00000697180.1:c.601G>T
ENST00000697241.1:c.528G>T	ENSP00000513206.1:p.Thr176=
ENST00000389793.7:c.6096G>T MANE Select	ENSP00000374443.2:p.Thr2032=
ENST00000389793.6:c.6096G>T	ENSP00000374443.2:p.Thr2032=
ENST00000389794.7:c.*1520G>T	ENSP00000374444.4:n.*1520G>T
ENST00000489585.5:n.6512+135G>T
NM_000081.3:c.6096G>T , LRG_143t1:c.6096G>T	NP_000072.2:p.Thr2032=
NM_001301365.1:c.6096G>T , LRG_143t2:c.6096G>T	NP_001288294.1:p.Thr2032=
XM_011544031.1:c.6096G>T	XP_011542333.1:p.Thr2032=
XM_011544032.1:c.6096G>T	XP_011542334.1:p.Thr2032=
XM_011544033.1:c.6096G>T	XP_011542335.1:p.Thr2032=
XM_011544034.1:c.5958G>T	XP_011542336.1:p.Thr1986=
XM_011544035.1:c.6096G>T	XP_011542337.1:p.Thr2032=
XM_011544036.1:c.3759G>T	XP_011542338.1:p.Thr1253=
XM_011544037.1:c.6096G>T	XP_011542339.1:p.Thr2032=
XM_011544038.1:c.6096G>T	XP_011542340.1:p.Thr2032=
XM_011544039.1:c.6096G>T	XP_011542341.1:p.Thr2032=
XM_011544040.1:c.6005G>T	XP_011542342.1:p.Arg2002Leu
XM_011544033.2:c.6096G>T	XP_011542335.1:p.Thr2032=
XM_011544035.2:c.6096G>T	XP_011542337.1:p.Thr2032=
XM_011544036.2:c.3759G>T	XP_011542338.1:p.Thr1253=
XM_011544037.2:c.6096G>T	XP_011542339.1:p.Thr2032=
XM_011544039.2:c.6096G>T	XP_011542341.1:p.Thr2032=
XM_017000150.1:c.6096G>T	XP_016855639.1:p.Thr2032=
XM_017000151.1:c.5867G>T	XP_016855640.1:p.Arg1956Leu
XR_001736946.2:n.6278G>T
XR_001736947.1:n.6278G>T
XR_001736948.1:n.6278G>T
XR_002959252.1:n.6187G>T
NM_000081.4:c.6096G>T MANE Select	NP_000072.2:p.Thr2032=