Canonical Allele Identifier: CA1465289
Gene: LYST HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.235686945C>A
GRCh37 chr1:g.235850245C>A
gnomAD v2:
1:235850245 C / A
gnomAD v3:
1:235686945 C / A
gnomAD v4:
chr1-235686945-C-A
Joint Max Group AF 0.013356 (AMR)
Genomes Max Group AF 0.0062936 (NFE)
Exomes Max Group AF 0.01566739 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235686945C>A , CM000663.2:g.235686945C>A GRCh38
NC_000001.10:g.235850245C>A , CM000663.1:g.235850245C>A GRCh37
NC_000001.9:g.233916868C>A NCBI36
NG_007397.1:g.201696G>T , LRG_143:g.201696G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000462376.2:n.2210+4G>T
ENST00000697178.1:c.*6495+4G>T ENSP00000513163.1:n.*6495+4G>T
ENST00000697235.1:c.1350+4G>T ENSP00000513202.1:n.1350+4G>T
ENST00000697236.1:c.4264+4G>T ENSP00000513203.1:n.4264+4G>T
ENST00000697237.1:c.1511+4G>T
ENST00000697239.1:n.194+4G>T
ENST00000697240.1:c.2934+4G>T ENSP00000513205.1:n.2934+4G>T
ENST00000389793.7:c.10800+4G>T MANE Select ENSP00000374443.2:n.10800+4G>T
ENST00000389793.6:c.10800+4G>T ENSP00000374443.2:n.10800+4G>T
ENST00000389794.7:c.*6224+4G>T ENSP00000374444.4:n.*6224+4G>T
ENST00000473037.5:n.5790+4G>T
NM_000081.3:c.10800+4G>T , LRG_143t1:c.10800+4G>T NP_000072.2:n.10800+4G>T
NM_001301365.1:c.10800+4G>T , LRG_143t2:c.10800+4G>T NP_001288294.1:n.10800+4G>T
XM_011544031.1:c.10962+4G>T XP_011542333.1:n.10962+4G>T
XM_011544032.1:c.10962+4G>T XP_011542334.1:n.10962+4G>T
XM_011544033.1:c.10962+4G>T XP_011542335.1:n.10962+4G>T
XM_011544034.1:c.10824+4G>T XP_011542336.1:n.10824+4G>T
XM_011544036.1:c.8625+4G>T XP_011542338.1:n.8625+4G>T
XM_011544033.2:c.10962+4G>T XP_011542335.1:n.10962+4G>T
XM_011544036.2:c.8625+4G>T XP_011542338.1:n.8625+4G>T
XM_017000150.1:c.10731+4G>T XP_016855639.1:n.10731+4G>T
NM_000081.4:c.10800+4G>T MANE Select NP_000072.2:n.10800+4G>T
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