Canonical Allele Identifier: CA1466353

Gene: LYST

Linked Data

• dbSNP Id: rs768272074
• ExAC: 1:235922629 C / A
• gnomAD v2: 1-235922629-C-A
• gnomAD v4: 1-235759329-C-A
• MyVariant Identifiers: chr1:g.235922629C>A (hg19) ; chr1:g.235759329C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235759329C>A , CM000663.2:g.235759329C>A	GRCh38
NC_000001.10:g.235922629C>A , CM000663.1:g.235922629C>A	GRCh37
NC_000001.9:g.233989252C>A	NCBI36
NG_007397.1:g.129312G>T , LRG_143:g.129312G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461526.2:c.1199G>T	ENSP00000513165.1:p.Cys400Phe
ENST00000697178.1:c.*1948G>T	ENSP00000513163.1:n.*1948G>T
ENST00000697236.1:c.233G>T	ENSP00000513203.1:p.Cys78Phe
ENST00000697241.1:c.956G>T	ENSP00000513206.1:p.Cys319Phe
ENST00000389793.7:c.6524G>T MANE Select	ENSP00000374443.2:p.Cys2175Phe
ENST00000389793.6:c.6524G>T	ENSP00000374443.2:p.Cys2175Phe
ENST00000389794.7:c.*1948G>T	ENSP00000374444.4:n.*1948G>T
ENST00000489585.5:n.6915G>T
NM_000081.3:c.6524G>T , LRG_143t1:c.6524G>T	NP_000072.2:p.Cys2175Phe
NM_001301365.1:c.6524G>T , LRG_143t2:c.6524G>T	NP_001288294.1:p.Cys2175Phe
XM_011544031.1:c.6524G>T	XP_011542333.1:p.Cys2175Phe
XM_011544032.1:c.6524G>T	XP_011542334.1:p.Cys2175Phe
XM_011544033.1:c.6524G>T	XP_011542335.1:p.Cys2175Phe
XM_011544034.1:c.6386G>T	XP_011542336.1:p.Cys2129Phe
XM_011544035.1:c.6524G>T	XP_011542337.1:p.Cys2175Phe
XM_011544036.1:c.4187G>T	XP_011542338.1:p.Cys1396Phe
XM_011544037.1:c.6524G>T	XP_011542339.1:p.Cys2175Phe
XM_011544038.1:c.6524G>T	XP_011542340.1:p.Cys2175Phe
XM_011544039.1:c.6524G>T	XP_011542341.1:p.Cys2175Phe
XM_011544033.2:c.6524G>T	XP_011542335.1:p.Cys2175Phe
XM_011544035.2:c.6524G>T	XP_011542337.1:p.Cys2175Phe
XM_011544036.2:c.4187G>T	XP_011542338.1:p.Cys1396Phe
XM_011544037.2:c.6524G>T	XP_011542339.1:p.Cys2175Phe
XM_011544039.2:c.6524G>T	XP_011542341.1:p.Cys2175Phe
XM_017000150.1:c.6524G>T	XP_016855639.1:p.Cys2175Phe
XR_001736946.2:n.6706G>T
XR_001736947.1:n.6706G>T
XR_001736948.1:n.6706G>T
NM_000081.4:c.6524G>T MANE Select	NP_000072.2:p.Cys2175Phe