Canonical Allele Identifier: CA1465753
Gene: LYST HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235731173C>T , CM000663.2:g.235731173C>T GRCh38
NC_000001.10:g.235894473C>T , CM000663.1:g.235894473C>T GRCh37
NC_000001.9:g.233961096C>T NCBI36
NG_007397.1:g.157468G>A , LRG_143:g.157468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461526.2:c.4334G>A ENSP00000513165.1:n.4334G>A
ENST00000475277.2:c.901G>A ENSP00000513164.1:p.Val301Ile
ENST00000697178.1:c.*4230G>A ENSP00000513163.1:n.*4230G>A
ENST00000697236.1:c.2515G>A ENSP00000513203.1:p.Val839Ile
ENST00000697240.1:c.940G>A ENSP00000513205.1:p.Val314Ile
ENST00000697241.1:c.3286G>A ENSP00000513206.1:p.Val1096Ile
ENST00000389793.7:c.8806G>A MANE Select ENSP00000374443.2:p.Val2936Ile
ENST00000389793.6:c.8806G>A ENSP00000374443.2:p.Val2936Ile
ENST00000389794.7:c.*4230G>A ENSP00000374444.4:n.*4230G>A
ENST00000473037.5:n.3796G>A
NM_000081.3:c.8806G>A , LRG_143t1:c.8806G>A NP_000072.2:p.Val2936Ile
NM_001301365.1:c.8806G>A , LRG_143t2:c.8806G>A NP_001288294.1:p.Val2936Ile
XM_011544031.1:c.8968G>A XP_011542333.1:p.Val2990Ile
XM_011544032.1:c.8968G>A XP_011542334.1:p.Val2990Ile
XM_011544033.1:c.8968G>A XP_011542335.1:p.Val2990Ile
XM_011544034.1:c.8830G>A XP_011542336.1:p.Val2944Ile
XM_011544035.1:c.8968G>A XP_011542337.1:p.Val2990Ile
XM_011544036.1:c.6631G>A XP_011542338.1:p.Val2211Ile
XM_011544033.2:c.8968G>A XP_011542335.1:p.Val2990Ile
XM_011544035.2:c.8968G>A XP_011542337.1:p.Val2990Ile
XM_011544036.2:c.6631G>A XP_011542338.1:p.Val2211Ile
XM_017000150.1:c.8968G>A XP_016855639.1:p.Val2990Ile
XR_001736947.1:n.9841G>A
NM_000081.4:c.8806G>A MANE Select NP_000072.2:p.Val2936Ile