Canonical Allele Identifier: CA344921193

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235677127C>A , CM000663.2:g.235677127C>A	GRCh38
NC_000001.10:g.235840427C>A , CM000663.1:g.235840427C>A	GRCh37
NC_000001.9:g.233907050C>A	NCBI36
NG_007397.1:g.211514G>T , LRG_143:g.211514G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.11002G>T MANE Select	NP_000072.2:p.Glu3668Ter
ENST00000389793.7:c.11002G>T MANE Select	ENSP00000374443.2:p.Glu3668Ter
NM_000081.3:c.11002G>T , LRG_143t1:c.11002G>T	NP_000072.2:p.Glu3668Ter
NM_001301365.1:c.11002G>T , LRG_143t2:c.11002G>T	NP_001288294.1:p.Glu3668Ter
ENST00000389793.6:c.11002G>T	ENSP00000374443.2:p.Glu3668Ter
ENST00000389794.7:c.*6426G>T	ENSP00000374444.4:n.*6426G>T
ENST00000462376.2:n.2412G>T
ENST00000473037.5:n.5992G>T
ENST00000697178.1:c.*6988G>T	ENSP00000513163.1:n.*6988G>T
ENST00000697235.1:c.1552G>T	ENSP00000513202.1:p.Glu518Ter
ENST00000697236.1:c.4466G>T	ENSP00000513203.1:n.4466G>T
ENST00000697237.1:c.1713G>T
ENST00000697239.1:n.396G>T
ENST00000697240.1:c.3136G>T	ENSP00000513205.1:p.Glu1046Ter
XM_011544031.1:c.11164G>T	XP_011542333.1:p.Glu3722Ter
XM_011544032.1:c.11164G>T	XP_011542334.1:p.Glu3722Ter
XM_011544033.1:c.11164G>T	XP_011542335.1:p.Glu3722Ter
XM_011544033.2:c.11164G>T	XP_011542335.1:p.Glu3722Ter
XM_011544034.1:c.11026G>T	XP_011542336.1:p.Glu3676Ter
XM_011544036.1:c.8827G>T	XP_011542338.1:p.Glu2943Ter
XM_011544036.2:c.8827G>T	XP_011542338.1:p.Glu2943Ter
XM_017000150.1:c.10933G>T	XP_016855639.1:p.Glu3645Ter