Canonical Allele Identifier: CA344929087
Community Standard Title: NM_000081.4(LYST):c.10468G>T (p.Gly3490Ter)
Gene: LYST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235697179C>A , CM000663.2:g.235697179C>A GRCh38
NC_000001.10:g.235860479C>A , CM000663.1:g.235860479C>A GRCh37
NC_000001.9:g.233927102C>A NCBI36
NG_007397.1:g.191462G>T , LRG_143:g.191462G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000081.4:c.10468G>T MANE Select NP_000072.2:p.Gly3490Ter
ENST00000389793.7:c.10468G>T MANE Select ENSP00000374443.2:p.Gly3490Ter
NM_000081.3:c.10468G>T , LRG_143t1:c.10468G>T NP_000072.2:p.Gly3490Ter
NM_001301365.1:c.10468G>T , LRG_143t2:c.10468G>T NP_001288294.1:p.Gly3490Ter
ENST00000389793.6:c.10468G>T ENSP00000374443.2:p.Gly3490Ter
ENST00000389794.7:c.*5892G>T ENSP00000374444.4:n.*5892G>T
ENST00000462376.2:n.1878G>T
ENST00000473037.5:n.5458G>T
ENST00000697178.1:c.*6163G>T ENSP00000513163.1:n.*6163G>T
ENST00000697179.1:n.3177G>T
ENST00000697235.1:c.1018G>T ENSP00000513202.1:p.Gly340Ter
ENST00000697236.1:c.3932G>T ENSP00000513203.1:n.3932G>T
ENST00000697237.1:c.1179G>T
ENST00000697240.1:c.2602G>T ENSP00000513205.1:p.Gly868Ter
XM_011544031.1:c.10630G>T XP_011542333.1:p.Gly3544Ter
XM_011544032.1:c.10630G>T XP_011542334.1:p.Gly3544Ter
XM_011544033.1:c.10630G>T XP_011542335.1:p.Gly3544Ter
XM_011544033.2:c.10630G>T XP_011542335.1:p.Gly3544Ter
XM_011544034.1:c.10492G>T XP_011542336.1:p.Gly3498Ter
XM_011544036.1:c.8293G>T XP_011542338.1:p.Gly2765Ter
XM_011544036.2:c.8293G>T XP_011542338.1:p.Gly2765Ter
XM_017000150.1:c.10399G>T XP_016855639.1:p.Gly3467Ter