Canonical Allele Identifier: CA1465214
Gene: LYST HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.235664574C>T
GRCh37 chr1:g.235827874C>T
Revel Score:
ENST00000389794 0.097
ENST00000389793 (MANE Select) 0.097
gnomAD v2:
1:235827874 C / T
gnomAD v3:
1:235664574 C / T
gnomAD v4:
chr1-235664574-C-T
Joint Max Group AF 0.0012034 (AMR)
Genomes Max Group AF 0.00076848 (NFE)
Exomes Max Group AF 0.00143183 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235664574C>T , CM000663.2:g.235664574C>T GRCh38
NC_000001.10:g.235827874C>T , CM000663.1:g.235827874C>T GRCh37
NC_000001.9:g.233894497C>T NCBI36
NG_007397.1:g.224067G>A , LRG_143:g.224067G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000462376.2:n.2496G>A
ENST00000697178.1:c.*7072G>A ENSP00000513163.1:n.*7072G>A
ENST00000697235.1:c.1636G>A ENSP00000513202.1:p.Val546Ile
ENST00000697236.1:c.4550G>A ENSP00000513203.1:n.4550G>A
ENST00000697237.1:c.1797G>A
ENST00000697238.1:n.240G>A
ENST00000697239.1:n.480G>A
ENST00000697240.1:c.3173-20G>A ENSP00000513205.1:n.3173-20G>A
ENST00000389793.7:c.11086G>A MANE Select ENSP00000374443.2:p.Val3696Ile
ENST00000389793.6:c.11086G>A ENSP00000374443.2:p.Val3696Ile
ENST00000389794.7:c.*6510G>A ENSP00000374444.4:n.*6510G>A
ENST00000473037.5:n.6076G>A
NM_000081.3:c.11086G>A , LRG_143t1:c.11086G>A NP_000072.2:p.Val3696Ile
NM_001301365.1:c.11086G>A , LRG_143t2:c.11086G>A NP_001288294.1:p.Val3696Ile
XM_011544031.1:c.11248G>A XP_011542333.1:p.Val3750Ile
XM_011544032.1:c.11248G>A XP_011542334.1:p.Val3750Ile
XM_011544033.1:c.11248G>A XP_011542335.1:p.Val3750Ile
XM_011544034.1:c.11110G>A XP_011542336.1:p.Val3704Ile
XM_011544036.1:c.8911G>A XP_011542338.1:p.Val2971Ile
XM_011544033.2:c.11248G>A XP_011542335.1:p.Val3750Ile
XM_011544036.2:c.8911G>A XP_011542338.1:p.Val2971Ile
XM_017000150.1:c.11017G>A XP_016855639.1:p.Val3673Ile
NM_000081.4:c.11086G>A MANE Select NP_000072.2:p.Val3696Ile
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