Canonical Allele Identifier: CA344920668
Gene: LYST HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235733859C>G , CM000663.2:g.235733859C>G GRCh38
NC_000001.10:g.235897159C>G , CM000663.1:g.235897159C>G GRCh37
NC_000001.9:g.233963782C>G NCBI36
NG_007397.1:g.154782G>C , LRG_143:g.154782G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000461526.2:c.4111G>C ENSP00000513165.1:n.4111G>C
ENST00000475277.2:c.678G>C ENSP00000513164.1:p.Trp226Cys
ENST00000697178.1:c.*4007G>C ENSP00000513163.1:n.*4007G>C
ENST00000697236.1:c.2292G>C ENSP00000513203.1:p.Trp764Cys
ENST00000697240.1:c.717G>C ENSP00000513205.1:p.Trp239Cys
ENST00000697241.1:c.3063G>C ENSP00000513206.1:p.Trp1021Cys
ENST00000389793.7:c.8583G>C MANE Select ENSP00000374443.2:p.Trp2861Cys
ENST00000389793.6:c.8583G>C ENSP00000374443.2:p.Trp2861Cys
ENST00000389794.7:c.*4007G>C ENSP00000374444.4:n.*4007G>C
ENST00000473037.5:n.3573G>C
NM_000081.3:c.8583G>C , LRG_143t1:c.8583G>C NP_000072.2:p.Trp2861Cys
NM_001301365.1:c.8583G>C , LRG_143t2:c.8583G>C NP_001288294.1:p.Trp2861Cys
XM_011544031.1:c.8745G>C XP_011542333.1:p.Trp2915Cys
XM_011544032.1:c.8745G>C XP_011542334.1:p.Trp2915Cys
XM_011544033.1:c.8745G>C XP_011542335.1:p.Trp2915Cys
XM_011544034.1:c.8607G>C XP_011542336.1:p.Trp2869Cys
XM_011544035.1:c.8745G>C XP_011542337.1:p.Trp2915Cys
XM_011544036.1:c.6408G>C XP_011542338.1:p.Trp2136Cys
XM_011544033.2:c.8745G>C XP_011542335.1:p.Trp2915Cys
XM_011544035.2:c.8745G>C XP_011542337.1:p.Trp2915Cys
XM_011544036.2:c.6408G>C XP_011542338.1:p.Trp2136Cys
XM_017000150.1:c.8745G>C XP_016855639.1:p.Trp2915Cys
XR_001736947.1:n.9618G>C
NM_000081.4:c.8583G>C MANE Select NP_000072.2:p.Trp2861Cys