Canonical Allele Identifier: CA206778
Gene: LYST HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235730874T>C , CM000663.2:g.235730874T>C GRCh38
NC_000001.10:g.235894174T>C , CM000663.1:g.235894174T>C GRCh37
NC_000001.9:g.233960797T>C NCBI36
NG_007397.1:g.157767A>G , LRG_143:g.157767A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461526.2:c.4545A>G ENSP00000513165.1:n.4545A>G
ENST00000475277.2:c.1112A>G ENSP00000513164.1:p.Lys371Arg
ENST00000697178.1:c.*4441A>G ENSP00000513163.1:n.*4441A>G
ENST00000697236.1:c.2726A>G ENSP00000513203.1:p.Lys909Arg
ENST00000697240.1:c.1151A>G ENSP00000513205.1:p.Lys384Arg
ENST00000697241.1:c.3497A>G ENSP00000513206.1:p.Lys1166Arg
ENST00000389793.7:c.9017A>G MANE Select ENSP00000374443.2:p.Lys3006Arg
ENST00000389793.6:c.9017A>G ENSP00000374443.2:p.Lys3006Arg
ENST00000389794.7:c.*4441A>G ENSP00000374444.4:n.*4441A>G
ENST00000473037.5:n.4007A>G
NM_000081.3:c.9017A>G , LRG_143t1:c.9017A>G NP_000072.2:p.Lys3006Arg
NM_001301365.1:c.9017A>G , LRG_143t2:c.9017A>G NP_001288294.1:p.Lys3006Arg
XM_011544031.1:c.9179A>G XP_011542333.1:p.Lys3060Arg
XM_011544032.1:c.9179A>G XP_011542334.1:p.Lys3060Arg
XM_011544033.1:c.9179A>G XP_011542335.1:p.Lys3060Arg
XM_011544034.1:c.9041A>G XP_011542336.1:p.Lys3014Arg
XM_011544035.1:c.9179A>G XP_011542337.1:p.Lys3060Arg
XM_011544036.1:c.6842A>G XP_011542338.1:p.Lys2281Arg
XM_011544033.2:c.9179A>G XP_011542335.1:p.Lys3060Arg
XM_011544035.2:c.9179A>G XP_011542337.1:p.Lys3060Arg
XM_011544036.2:c.6842A>G XP_011542338.1:p.Lys2281Arg
XM_017000150.1:c.9179A>G XP_016855639.1:p.Lys3060Arg
XR_001736947.1:n.10052A>G
NM_000081.4:c.9017A>G MANE Select NP_000072.2:p.Lys3006Arg