Canonical Allele Identifier: CA344926375
Community Standard Title: NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter)
Gene: LYST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235693408A>T , CM000663.2:g.235693408A>T GRCh38
NC_000001.10:g.235856708A>T , CM000663.1:g.235856708A>T GRCh37
NC_000001.9:g.233923331A>T NCBI36
NG_007397.1:g.195233T>A , LRG_143:g.195233T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000081.4:c.10643T>A MANE Select NP_000072.2:p.Leu3548Ter
ENST00000389793.7:c.10643T>A MANE Select ENSP00000374443.2:p.Leu3548Ter
NM_000081.3:c.10643T>A , LRG_143t1:c.10643T>A NP_000072.2:p.Leu3548Ter
NM_001301365.1:c.10643T>A , LRG_143t2:c.10643T>A NP_001288294.1:p.Leu3548Ter
ENST00000389793.6:c.10643T>A ENSP00000374443.2:p.Leu3548Ter
ENST00000389794.7:c.*6067T>A ENSP00000374444.4:n.*6067T>A
ENST00000462376.2:n.2053T>A
ENST00000473037.5:n.5633T>A
ENST00000697178.1:c.*6338T>A ENSP00000513163.1:n.*6338T>A
ENST00000697235.1:c.1193T>A ENSP00000513202.1:p.Leu398Ter
ENST00000697236.1:c.4107T>A ENSP00000513203.1:n.4107T>A
ENST00000697237.1:c.1354T>A
ENST00000697240.1:c.2777T>A ENSP00000513205.1:p.Leu926Ter
XM_011544031.1:c.10805T>A XP_011542333.1:p.Leu3602Ter
XM_011544032.1:c.10805T>A XP_011542334.1:p.Leu3602Ter
XM_011544033.1:c.10805T>A XP_011542335.1:p.Leu3602Ter
XM_011544033.2:c.10805T>A XP_011542335.1:p.Leu3602Ter
XM_011544034.1:c.10667T>A XP_011542336.1:p.Leu3556Ter
XM_011544036.1:c.8468T>A XP_011542338.1:p.Leu2823Ter
XM_011544036.2:c.8468T>A XP_011542338.1:p.Leu2823Ter
XM_017000150.1:c.10574T>A XP_016855639.1:p.Leu3525Ter