Canonical Allele Identifier: CA344936203
Community Standard Title: NM_000081.4(LYST):c.7010T>A (p.Leu2337Ter)
Gene: LYST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235757330A>T , CM000663.2:g.235757330A>T GRCh38
NC_000001.10:g.235920630A>T , CM000663.1:g.235920630A>T GRCh37
NC_000001.9:g.233987253A>T NCBI36
NG_007397.1:g.131311T>A , LRG_143:g.131311T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000081.4:c.7010T>A MANE Select NP_000072.2:p.Leu2337Ter
ENST00000389793.7:c.7010T>A MANE Select ENSP00000374443.2:p.Leu2337Ter
NM_000081.3:c.7010T>A , LRG_143t1:c.7010T>A NP_000072.2:p.Leu2337Ter
NM_001301365.1:c.7010T>A , LRG_143t2:c.7010T>A NP_001288294.1:p.Leu2337Ter
ENST00000389793.6:c.7010T>A ENSP00000374443.2:p.Leu2337Ter
ENST00000389794.7:c.*2434T>A ENSP00000374444.4:n.*2434T>A
ENST00000461526.2:c.1685T>A ENSP00000513165.1:p.Leu562Ter
ENST00000697178.1:c.*2434T>A ENSP00000513163.1:n.*2434T>A
ENST00000697236.1:c.719T>A ENSP00000513203.1:p.Leu240Ter
ENST00000697241.1:c.1442T>A ENSP00000513206.1:p.Leu481Ter
XM_011544031.1:c.7010T>A XP_011542333.1:p.Leu2337Ter
XM_011544032.1:c.7010T>A XP_011542334.1:p.Leu2337Ter
XM_011544033.1:c.7010T>A XP_011542335.1:p.Leu2337Ter
XM_011544033.2:c.7010T>A XP_011542335.1:p.Leu2337Ter
XM_011544034.1:c.6872T>A XP_011542336.1:p.Leu2291Ter
XM_011544035.1:c.7010T>A XP_011542337.1:p.Leu2337Ter
XM_011544035.2:c.7010T>A XP_011542337.1:p.Leu2337Ter
XM_011544036.1:c.4673T>A XP_011542338.1:p.Leu1558Ter
XM_011544036.2:c.4673T>A XP_011542338.1:p.Leu1558Ter
XM_011544037.1:c.7010T>A XP_011542339.1:p.Leu2337Ter
XM_011544037.2:c.7010T>A XP_011542339.1:p.Leu2337Ter
XM_011544038.1:c.7010T>A XP_011542340.1:p.Leu2337Ter
XM_011544039.1:c.7010T>A XP_011542341.1:p.Leu2337Ter
XM_011544039.2:c.7010T>A XP_011542341.1:p.Leu2337Ter
XM_017000150.1:c.7010T>A XP_016855639.1:p.Leu2337Ter
XR_001736946.2:n.7192T>A
XR_001736947.1:n.7192T>A
XR_001736948.1:n.7192T>A