Canonical Allele Identifier: CA344945487
Community Standard Title: NM_000081.4(LYST):c.9239G>A (p.Trp3080Ter)
Gene: LYST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235724104C>T , CM000663.2:g.235724104C>T GRCh38
NC_000001.10:g.235887404C>T , CM000663.1:g.235887404C>T GRCh37
NC_000001.9:g.233954027C>T NCBI36
NG_007397.1:g.164537G>A , LRG_143:g.164537G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000081.4:c.9239G>A MANE Select NP_000072.2:p.Trp3080Ter
ENST00000389793.7:c.9239G>A MANE Select ENSP00000374443.2:p.Trp3080Ter
NM_000081.3:c.9239G>A , LRG_143t1:c.9239G>A NP_000072.2:p.Trp3080Ter
NM_001301365.1:c.9239G>A , LRG_143t2:c.9239G>A NP_001288294.1:p.Trp3080Ter
ENST00000389793.6:c.9239G>A ENSP00000374443.2:p.Trp3080Ter
ENST00000389794.7:c.*4663G>A ENSP00000374444.4:n.*4663G>A
ENST00000461526.2:c.4767G>A ENSP00000513165.1:n.4767G>A
ENST00000473037.5:n.4229G>A
ENST00000475277.1:n.105G>A
ENST00000475277.2:c.1334G>A ENSP00000513164.1:p.Trp445Ter
ENST00000697178.1:c.*4663G>A ENSP00000513163.1:n.*4663G>A
ENST00000697236.1:c.2948G>A ENSP00000513203.1:p.Trp983Ter
ENST00000697237.1:c.195G>A
ENST00000697240.1:c.1373G>A ENSP00000513205.1:p.Trp458Ter
ENST00000697241.1:c.3719G>A ENSP00000513206.1:p.Trp1240Ter
XM_011544031.1:c.9401G>A XP_011542333.1:p.Trp3134Ter
XM_011544032.1:c.9401G>A XP_011542334.1:p.Trp3134Ter
XM_011544033.1:c.9401G>A XP_011542335.1:p.Trp3134Ter
XM_011544033.2:c.9401G>A XP_011542335.1:p.Trp3134Ter
XM_011544034.1:c.9263G>A XP_011542336.1:p.Trp3088Ter
XM_011544035.1:c.9401G>A XP_011542337.1:p.Trp3134Ter
XM_011544035.2:c.9401G>A XP_011542337.1:p.Trp3134Ter
XM_011544036.1:c.7064G>A XP_011542338.1:p.Trp2355Ter
XM_011544036.2:c.7064G>A XP_011542338.1:p.Trp2355Ter
XM_017000150.1:c.9401G>A XP_016855639.1:p.Trp3134Ter
XR_001736947.1:n.10274G>A