Canonical Allele Identifier: CA1465395
Gene: LYST HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235702780C>T , CM000663.2:g.235702780C>T GRCh38
NC_000001.10:g.235866080C>T , CM000663.1:g.235866080C>T GRCh37
NC_000001.9:g.233932703C>T NCBI36
NG_007397.1:g.185861G>A , LRG_143:g.185861G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000462376.2:n.1751G>A
ENST00000697178.1:c.*6036G>A ENSP00000513163.1:n.*6036G>A
ENST00000697179.1:n.3050G>A
ENST00000697235.1:c.891G>A ENSP00000513202.1:p.Glu297=
ENST00000697236.1:c.3805G>A ENSP00000513203.1:n.3805G>A
ENST00000697237.1:c.1052G>A
ENST00000697240.1:c.2475G>A ENSP00000513205.1:p.Glu825=
ENST00000389793.7:c.10341G>A MANE Select ENSP00000374443.2:p.Glu3447=
ENST00000389793.6:c.10341G>A ENSP00000374443.2:p.Glu3447=
ENST00000389794.7:c.*5765G>A ENSP00000374444.4:n.*5765G>A
ENST00000473037.5:n.5331G>A
NM_000081.3:c.10341G>A , LRG_143t1:c.10341G>A NP_000072.2:p.Glu3447=
NM_001301365.1:c.10341G>A , LRG_143t2:c.10341G>A NP_001288294.1:p.Glu3447=
XM_011544031.1:c.10503G>A XP_011542333.1:p.Glu3501=
XM_011544032.1:c.10503G>A XP_011542334.1:p.Glu3501=
XM_011544033.1:c.10503G>A XP_011542335.1:p.Glu3501=
XM_011544034.1:c.10365G>A XP_011542336.1:p.Glu3455=
XM_011544036.1:c.8166G>A XP_011542338.1:p.Glu2722=
XM_011544033.2:c.10503G>A XP_011542335.1:p.Glu3501=
XM_011544036.2:c.8166G>A XP_011542338.1:p.Glu2722=
XM_017000150.1:c.10306-5508G>A XP_016855639.1:n.10306-5508G>A
NM_000081.4:c.10341G>A MANE Select NP_000072.2:p.Glu3447=