Canonical Allele Identifier: CA1465137

Gene: LYST

Linked Data

• ClinVar Variation Id: 525177
• ClinVar RCV Id: RCV000629221
• dbSNP Id: rs764016310
• ExAC: 1:235826245 C / G
• gnomAD v2: 1-235826245-C-G
• gnomAD v3: 1-235662945-C-G
• gnomAD v4: 1-235662945-C-G
• MyVariant Identifiers: chr1:g.235826245C>G (hg19) ; chr1:g.235662945C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235662945C>G , CM000663.2:g.235662945C>G	GRCh38
NC_000001.10:g.235826245C>G , CM000663.1:g.235826245C>G	GRCh37
NC_000001.9:g.233892868C>G	NCBI36
NG_007397.1:g.225696G>C , LRG_143:g.225696G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462376.2:n.3220G>C
ENST00000697178.1:c.*7387G>C	ENSP00000513163.1:n.*7387G>C
ENST00000697235.1:c.1951G>C	ENSP00000513202.1:p.Gly651Arg
ENST00000697236.1:c.4865G>C	ENSP00000513203.1:n.4865G>C
ENST00000697237.1:c.2112G>C
ENST00000697238.1:n.555G>C
ENST00000697239.1:n.795G>C
ENST00000697240.1:c.3468G>C	ENSP00000513205.1:n.3468G>C
ENST00000389793.7:c.11401G>C MANE Select	ENSP00000374443.2:p.Gly3801Arg
ENST00000389793.6:c.11401G>C	ENSP00000374443.2:p.Gly3801Arg
ENST00000389794.7:c.*6825G>C	ENSP00000374444.4:n.*6825G>C
ENST00000473037.5:n.6391G>C
NM_000081.3:c.11401G>C , LRG_143t1:c.11401G>C	NP_000072.2:p.Gly3801Arg
NM_001301365.1:c.11401G>C , LRG_143t2:c.11401G>C	NP_001288294.1:p.Gly3801Arg
XM_011544031.1:c.11563G>C	XP_011542333.1:p.Gly3855Arg
XM_011544032.1:c.11563G>C	XP_011542334.1:p.Gly3855Arg
XM_011544033.1:c.11563G>C	XP_011542335.1:p.Gly3855Arg
XM_011544034.1:c.11425G>C	XP_011542336.1:p.Gly3809Arg
XM_011544036.1:c.9226G>C	XP_011542338.1:p.Gly3076Arg
XM_011544033.2:c.11563G>C	XP_011542335.1:p.Gly3855Arg
XM_011544036.2:c.9226G>C	XP_011542338.1:p.Gly3076Arg
XM_017000150.1:c.11332G>C	XP_016855639.1:p.Gly3778Arg
NM_000081.4:c.11401G>C MANE Select	NP_000072.2:p.Gly3801Arg