Canonical Allele Identifier: CA344986638
Gene: LYST HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235664487C>G , CM000663.2:g.235664487C>G GRCh38
NC_000001.10:g.235827787C>G , CM000663.1:g.235827787C>G GRCh37
NC_000001.9:g.233894410C>G NCBI36
NG_007397.1:g.224154G>C , LRG_143:g.224154G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000462376.2:n.2583G>C
ENST00000697178.1:c.*7159G>C ENSP00000513163.1:n.*7159G>C
ENST00000697235.1:c.1723G>C ENSP00000513202.1:p.Gly575Arg
ENST00000697236.1:c.4637G>C ENSP00000513203.1:n.4637G>C
ENST00000697237.1:c.1884G>C
ENST00000697238.1:n.327G>C
ENST00000697239.1:n.567G>C
ENST00000697240.1:c.3240G>C ENSP00000513205.1:n.3240G>C
ENST00000389793.7:c.11173G>C MANE Select ENSP00000374443.2:p.Gly3725Arg
ENST00000389793.6:c.11173G>C ENSP00000374443.2:p.Gly3725Arg
ENST00000389794.7:c.*6597G>C ENSP00000374444.4:n.*6597G>C
ENST00000473037.5:n.6163G>C
NM_000081.3:c.11173G>C , LRG_143t1:c.11173G>C NP_000072.2:p.Gly3725Arg
NM_001301365.1:c.11173G>C , LRG_143t2:c.11173G>C NP_001288294.1:p.Gly3725Arg
XM_011544031.1:c.11335G>C XP_011542333.1:p.Gly3779Arg
XM_011544032.1:c.11335G>C XP_011542334.1:p.Gly3779Arg
XM_011544033.1:c.11335G>C XP_011542335.1:p.Gly3779Arg
XM_011544034.1:c.11197G>C XP_011542336.1:p.Gly3733Arg
XM_011544036.1:c.8998G>C XP_011542338.1:p.Gly3000Arg
XM_011544033.2:c.11335G>C XP_011542335.1:p.Gly3779Arg
XM_011544036.2:c.8998G>C XP_011542338.1:p.Gly3000Arg
XM_017000150.1:c.11104G>C XP_016855639.1:p.Gly3702Arg
NM_000081.4:c.11173G>C MANE Select NP_000072.2:p.Gly3725Arg