Canonical Allele Identifier: CA423858518
Gene: LYST HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235664007G>T , CM000663.2:g.235664007G>T GRCh38
NC_000001.10:g.235827307G>T , CM000663.1:g.235827307G>T GRCh37
NC_000001.9:g.233893930G>T NCBI36
NG_007397.1:g.224634C>A , LRG_143:g.224634C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000462376.2:n.3063C>A
ENST00000697178.1:c.*7230C>A ENSP00000513163.1:n.*7230C>A
ENST00000697235.1:c.1794C>A ENSP00000513202.1:p.Pro598=
ENST00000697236.1:c.4708C>A ENSP00000513203.1:n.4708C>A
ENST00000697237.1:c.1955C>A
ENST00000697238.1:n.398C>A
ENST00000697239.1:n.638C>A
ENST00000697240.1:c.3311C>A ENSP00000513205.1:n.3311C>A
ENST00000389793.7:c.11244C>A MANE Select ENSP00000374443.2:p.Pro3748=
ENST00000389793.6:c.11244C>A ENSP00000374443.2:p.Pro3748=
ENST00000389794.7:c.*6668C>A ENSP00000374444.4:n.*6668C>A
ENST00000473037.5:n.6234C>A
NM_000081.3:c.11244C>A , LRG_143t1:c.11244C>A NP_000072.2:p.Pro3748=
NM_001301365.1:c.11244C>A , LRG_143t2:c.11244C>A NP_001288294.1:p.Pro3748=
XM_011544031.1:c.11406C>A XP_011542333.1:p.Pro3802=
XM_011544032.1:c.11406C>A XP_011542334.1:p.Pro3802=
XM_011544033.1:c.11406C>A XP_011542335.1:p.Pro3802=
XM_011544034.1:c.11268C>A XP_011542336.1:p.Pro3756=
XM_011544036.1:c.9069C>A XP_011542338.1:p.Pro3023=
XM_011544033.2:c.11406C>A XP_011542335.1:p.Pro3802=
XM_011544036.2:c.9069C>A XP_011542338.1:p.Pro3023=
XM_017000150.1:c.11175C>A XP_016855639.1:p.Pro3725=
NM_000081.4:c.11244C>A MANE Select NP_000072.2:p.Pro3748=