Canonical Allele Identifier: CA1465602
Gene: LYST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235720874G>A , CM000663.2:g.235720874G>A GRCh38
NC_000001.10:g.235884174G>A , CM000663.1:g.235884174G>A GRCh37
NC_000001.9:g.233950797G>A NCBI36
NG_007397.1:g.167767C>T , LRG_143:g.167767C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461526.2:c.4875C>T ENSP00000513165.1:n.4875C>T
ENST00000475277.2:c.1442C>T ENSP00000513164.1:p.Thr481Ile
ENST00000697178.1:c.*4771C>T ENSP00000513163.1:n.*4771C>T
ENST00000697235.1:c.17C>T ENSP00000513202.1:p.Thr6Ile
ENST00000697236.1:c.3024+3154C>T ENSP00000513203.1:n.3024+3154C>T
ENST00000697237.1:c.303C>T
ENST00000697240.1:c.1481C>T ENSP00000513205.1:p.Thr494Ile
ENST00000697241.1:c.3827C>T ENSP00000513206.1:p.Thr1276Ile
ENST00000389793.7:c.9347C>T MANE Select ENSP00000374443.2:p.Thr3116Ile
ENST00000389793.6:c.9347C>T ENSP00000374443.2:p.Thr3116Ile
ENST00000389794.7:c.*4771C>T ENSP00000374444.4:n.*4771C>T
ENST00000473037.5:n.4337C>T
ENST00000475277.1:n.213C>T
NM_000081.3:c.9347C>T , LRG_143t1:c.9347C>T NP_000072.2:p.Thr3116Ile
NM_001301365.1:c.9347C>T , LRG_143t2:c.9347C>T NP_001288294.1:p.Thr3116Ile
XM_011544031.1:c.9509C>T XP_011542333.1:p.Thr3170Ile
XM_011544032.1:c.9509C>T XP_011542334.1:p.Thr3170Ile
XM_011544033.1:c.9509C>T XP_011542335.1:p.Thr3170Ile
XM_011544034.1:c.9371C>T XP_011542336.1:p.Thr3124Ile
XM_011544035.1:c.9509C>T XP_011542337.1:p.Thr3170Ile
XM_011544036.1:c.7172C>T XP_011542338.1:p.Thr2391Ile
XM_011544033.2:c.9509C>T XP_011542335.1:p.Thr3170Ile
XM_011544035.2:c.9509C>T XP_011542337.1:p.Thr3170Ile
XM_011544036.2:c.7172C>T XP_011542338.1:p.Thr2391Ile
XM_017000150.1:c.9509C>T XP_016855639.1:p.Thr3170Ile
XR_001736947.1:n.10382C>T
NM_000081.4:c.9347C>T MANE Select NP_000072.2:p.Thr3116Ile