Canonical Allele Identifier: CA344941438
Gene: LYST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235759350C>A , CM000663.2:g.235759350C>A GRCh38
NC_000001.10:g.235922650C>A , CM000663.1:g.235922650C>A GRCh37
NC_000001.9:g.233989273C>A NCBI36
NG_007397.1:g.129291G>T , LRG_143:g.129291G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461526.2:c.1178G>T ENSP00000513165.1:p.Cys393Phe
ENST00000697178.1:c.*1927G>T ENSP00000513163.1:n.*1927G>T
ENST00000697236.1:c.212G>T ENSP00000513203.1:p.Cys71Phe
ENST00000697241.1:c.935G>T ENSP00000513206.1:p.Cys312Phe
ENST00000389793.7:c.6503G>T MANE Select ENSP00000374443.2:p.Cys2168Phe
ENST00000389793.6:c.6503G>T ENSP00000374443.2:p.Cys2168Phe
ENST00000389794.7:c.*1927G>T ENSP00000374444.4:n.*1927G>T
ENST00000489585.5:n.6894G>T
NM_000081.3:c.6503G>T , LRG_143t1:c.6503G>T NP_000072.2:p.Cys2168Phe
NM_001301365.1:c.6503G>T , LRG_143t2:c.6503G>T NP_001288294.1:p.Cys2168Phe
XM_011544031.1:c.6503G>T XP_011542333.1:p.Cys2168Phe
XM_011544032.1:c.6503G>T XP_011542334.1:p.Cys2168Phe
XM_011544033.1:c.6503G>T XP_011542335.1:p.Cys2168Phe
XM_011544034.1:c.6365G>T XP_011542336.1:p.Cys2122Phe
XM_011544035.1:c.6503G>T XP_011542337.1:p.Cys2168Phe
XM_011544036.1:c.4166G>T XP_011542338.1:p.Cys1389Phe
XM_011544037.1:c.6503G>T XP_011542339.1:p.Cys2168Phe
XM_011544038.1:c.6503G>T XP_011542340.1:p.Cys2168Phe
XM_011544039.1:c.6503G>T XP_011542341.1:p.Cys2168Phe
XM_011544033.2:c.6503G>T XP_011542335.1:p.Cys2168Phe
XM_011544035.2:c.6503G>T XP_011542337.1:p.Cys2168Phe
XM_011544036.2:c.4166G>T XP_011542338.1:p.Cys1389Phe
XM_011544037.2:c.6503G>T XP_011542339.1:p.Cys2168Phe
XM_011544039.2:c.6503G>T XP_011542341.1:p.Cys2168Phe
XM_017000150.1:c.6503G>T XP_016855639.1:p.Cys2168Phe
XR_001736946.2:n.6685G>T
XR_001736947.1:n.6685G>T
XR_001736948.1:n.6685G>T
NM_000081.4:c.6503G>T MANE Select NP_000072.2:p.Cys2168Phe