Canonical Allele Identifier: CA344986863

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235664543C>G , CM000663.2:g.235664543C>G	GRCh38
NC_000001.10:g.235827843C>G , CM000663.1:g.235827843C>G	GRCh37
NC_000001.9:g.233894466C>G	NCBI36
NG_007397.1:g.224098G>C , LRG_143:g.224098G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.11117G>C MANE Select	NP_000072.2:p.Cys3706Ser
ENST00000389793.7:c.11117G>C MANE Select	ENSP00000374443.2:p.Cys3706Ser
NM_000081.3:c.11117G>C , LRG_143t1:c.11117G>C	NP_000072.2:p.Cys3706Ser
NM_001301365.1:c.11117G>C , LRG_143t2:c.11117G>C	NP_001288294.1:p.Cys3706Ser
ENST00000389793.6:c.11117G>C	ENSP00000374443.2:p.Cys3706Ser
ENST00000389794.7:c.*6541G>C	ENSP00000374444.4:n.*6541G>C
ENST00000462376.2:n.2527G>C
ENST00000473037.5:n.6107G>C
ENST00000697178.1:c.*7103G>C	ENSP00000513163.1:n.*7103G>C
ENST00000697235.1:c.1667G>C	ENSP00000513202.1:p.Cys556Ser
ENST00000697236.1:c.4581G>C	ENSP00000513203.1:n.4581G>C
ENST00000697237.1:c.1828G>C
ENST00000697238.1:n.271G>C
ENST00000697239.1:n.511G>C
ENST00000697240.1:c.3184G>C	ENSP00000513205.1:p.Val1062Leu
XM_011544031.1:c.11279G>C	XP_011542333.1:p.Cys3760Ser
XM_011544032.1:c.11279G>C	XP_011542334.1:p.Cys3760Ser
XM_011544033.1:c.11279G>C	XP_011542335.1:p.Cys3760Ser
XM_011544033.2:c.11279G>C	XP_011542335.1:p.Cys3760Ser
XM_011544034.1:c.11141G>C	XP_011542336.1:p.Cys3714Ser
XM_011544036.1:c.8942G>C	XP_011542338.1:p.Cys2981Ser
XM_011544036.2:c.8942G>C	XP_011542338.1:p.Cys2981Ser
XM_017000150.1:c.11048G>C	XP_016855639.1:p.Cys3683Ser