Canonical Allele Identifier: CA1465250

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235677164C>G , CM000663.2:g.235677164C>G	GRCh38
NC_000001.10:g.235840464C>G , CM000663.1:g.235840464C>G	GRCh37
NC_000001.9:g.233907087C>G	NCBI36
NG_007397.1:g.211477G>C , LRG_143:g.211477G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.10965G>C MANE Select	NP_000072.2:p.Ala3655=
ENST00000389793.7:c.10965G>C MANE Select	ENSP00000374443.2:p.Ala3655=
NM_000081.3:c.10965G>C , LRG_143t1:c.10965G>C	NP_000072.2:p.Ala3655=
NM_001301365.1:c.10965G>C , LRG_143t2:c.10965G>C	NP_001288294.1:p.Ala3655=
ENST00000389793.6:c.10965G>C	ENSP00000374443.2:p.Ala3655=
ENST00000389794.7:c.*6389G>C	ENSP00000374444.4:n.*6389G>C
ENST00000462376.2:n.2375G>C
ENST00000473037.5:n.5955G>C
ENST00000697178.1:c.*6951G>C	ENSP00000513163.1:n.*6951G>C
ENST00000697235.1:c.1515G>C	ENSP00000513202.1:p.Ala505=
ENST00000697236.1:c.4429G>C	ENSP00000513203.1:n.4429G>C
ENST00000697237.1:c.1676G>C
ENST00000697239.1:n.359G>C
ENST00000697240.1:c.3099G>C	ENSP00000513205.1:p.Ala1033=
XM_011544031.1:c.11127G>C	XP_011542333.1:p.Ala3709=
XM_011544032.1:c.11127G>C	XP_011542334.1:p.Ala3709=
XM_011544033.1:c.11127G>C	XP_011542335.1:p.Ala3709=
XM_011544033.2:c.11127G>C	XP_011542335.1:p.Ala3709=
XM_011544034.1:c.10989G>C	XP_011542336.1:p.Ala3663=
XM_011544036.1:c.8790G>C	XP_011542338.1:p.Ala2930=
XM_011544036.2:c.8790G>C	XP_011542338.1:p.Ala2930=
XM_017000150.1:c.10896G>C	XP_016855639.1:p.Ala3632=