Canonical Allele Identifier: CA2697554986
Gene: LYST HGNC NCBI

Linked Data

ClinVar Variation Id: 2750641
ClinVar RCV Id: RCV003524394

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235663974A>G , CM000663.2:g.235663974A>G GRCh38
NC_000001.10:g.235827274A>G , CM000663.1:g.235827274A>G GRCh37
NC_000001.9:g.233893897A>G NCBI36
NG_007397.1:g.224667T>C , LRG_143:g.224667T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000462376.2:n.3086+10T>C
ENST00000697178.1:c.*7253+10T>C ENSP00000513163.1:n.*7253+10T>C
ENST00000697235.1:c.1817+10T>C ENSP00000513202.1:n.1817+10T>C
ENST00000697236.1:c.4731+10T>C ENSP00000513203.1:n.4731+10T>C
ENST00000697237.1:c.1978+10T>C
ENST00000697238.1:n.421+10T>C
ENST00000697239.1:n.661+10T>C
ENST00000697240.1:c.3334+10T>C ENSP00000513205.1:n.3334+10T>C
ENST00000389793.7:c.11267+10T>C MANE Select ENSP00000374443.2:n.11267+10T>C
ENST00000389793.6:c.11267+10T>C ENSP00000374443.2:n.11267+10T>C
ENST00000389794.7:c.*6691+10T>C ENSP00000374444.4:n.*6691+10T>C
ENST00000473037.5:n.6257+10T>C
NM_000081.3:c.11267+10T>C , LRG_143t1:c.11267+10T>C NP_000072.2:n.11267+10T>C
NM_001301365.1:c.11267+10T>C , LRG_143t2:c.11267+10T>C NP_001288294.1:n.11267+10T>C
XM_011544031.1:c.11429+10T>C XP_011542333.1:n.11429+10T>C
XM_011544032.1:c.11429+10T>C XP_011542334.1:n.11429+10T>C
XM_011544033.1:c.11429+10T>C XP_011542335.1:n.11429+10T>C
XM_011544034.1:c.11291+10T>C XP_011542336.1:n.11291+10T>C
XM_011544036.1:c.9092+10T>C XP_011542338.1:n.9092+10T>C
XM_011544033.2:c.11429+10T>C XP_011542335.1:n.11429+10T>C
XM_011544036.2:c.9092+10T>C XP_011542338.1:n.9092+10T>C
XM_017000150.1:c.11198+10T>C XP_016855639.1:n.11198+10T>C
NM_000081.4:c.11267+10T>C MANE Select NP_000072.2:n.11267+10T>C