Canonical Allele Identifier: CA1465580
Gene: LYST HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235720701C>T , CM000663.2:g.235720701C>T GRCh38
NC_000001.10:g.235884001C>T , CM000663.1:g.235884001C>T GRCh37
NC_000001.9:g.233950624C>T NCBI36
NG_007397.1:g.167940G>A , LRG_143:g.167940G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461526.2:c.5048G>A ENSP00000513165.1:n.5048G>A
ENST00000475277.2:c.1615G>A ENSP00000513164.1:p.Val539Ile
ENST00000697178.1:c.*4944G>A ENSP00000513163.1:n.*4944G>A
ENST00000697235.1:c.75-5G>A ENSP00000513202.1:n.75-5G>A
ENST00000697236.1:c.3024+3327G>A ENSP00000513203.1:n.3024+3327G>A
ENST00000697237.1:c.476G>A
ENST00000697240.1:c.1654G>A ENSP00000513205.1:p.Val552Ile
ENST00000697241.1:c.4000G>A ENSP00000513206.1:p.Val1334Ile
ENST00000389793.7:c.9520G>A MANE Select ENSP00000374443.2:p.Val3174Ile
ENST00000389793.6:c.9520G>A ENSP00000374443.2:p.Val3174Ile
ENST00000389794.7:c.*4944G>A ENSP00000374444.4:n.*4944G>A
ENST00000473037.5:n.4510G>A
ENST00000475277.1:n.386G>A
NM_000081.3:c.9520G>A , LRG_143t1:c.9520G>A NP_000072.2:p.Val3174Ile
NM_001301365.1:c.9520G>A , LRG_143t2:c.9520G>A NP_001288294.1:p.Val3174Ile
XM_011544031.1:c.9682G>A XP_011542333.1:p.Val3228Ile
XM_011544032.1:c.9682G>A XP_011542334.1:p.Val3228Ile
XM_011544033.1:c.9682G>A XP_011542335.1:p.Val3228Ile
XM_011544034.1:c.9544G>A XP_011542336.1:p.Val3182Ile
XM_011544035.1:c.9682G>A XP_011542337.1:p.Val3228Ile
XM_011544036.1:c.7345G>A XP_011542338.1:p.Val2449Ile
XM_011544033.2:c.9682G>A XP_011542335.1:p.Val3228Ile
XM_011544035.2:c.9682G>A XP_011542337.1:p.Val3228Ile
XM_011544036.2:c.7345G>A XP_011542338.1:p.Val2449Ile
XM_017000150.1:c.9682G>A XP_016855639.1:p.Val3228Ile
XR_001736947.1:n.10555G>A
NM_000081.4:c.9520G>A MANE Select NP_000072.2:p.Val3174Ile