Canonical Allele Identifier: CA1465358
Gene: LYST HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235697170A>G , CM000663.2:g.235697170A>G GRCh38
NC_000001.10:g.235860470A>G , CM000663.1:g.235860470A>G GRCh37
NC_000001.9:g.233927093A>G NCBI36
NG_007397.1:g.191471T>C , LRG_143:g.191471T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000462376.2:n.1887T>C
ENST00000697178.1:c.*6172T>C ENSP00000513163.1:n.*6172T>C
ENST00000697179.1:n.3186T>C
ENST00000697235.1:c.1027T>C ENSP00000513202.1:p.Phe343Leu
ENST00000697236.1:c.3941T>C ENSP00000513203.1:n.3941T>C
ENST00000697237.1:c.1188T>C
ENST00000697240.1:c.2611T>C ENSP00000513205.1:p.Phe871Leu
ENST00000389793.7:c.10477T>C MANE Select ENSP00000374443.2:p.Phe3493Leu
ENST00000389793.6:c.10477T>C ENSP00000374443.2:p.Phe3493Leu
ENST00000389794.7:c.*5901T>C ENSP00000374444.4:n.*5901T>C
ENST00000473037.5:n.5467T>C
NM_000081.3:c.10477T>C , LRG_143t1:c.10477T>C NP_000072.2:p.Phe3493Leu
NM_001301365.1:c.10477T>C , LRG_143t2:c.10477T>C NP_001288294.1:p.Phe3493Leu
XM_011544031.1:c.10639T>C XP_011542333.1:p.Phe3547Leu
XM_011544032.1:c.10639T>C XP_011542334.1:p.Phe3547Leu
XM_011544033.1:c.10639T>C XP_011542335.1:p.Phe3547Leu
XM_011544034.1:c.10501T>C XP_011542336.1:p.Phe3501Leu
XM_011544036.1:c.8302T>C XP_011542338.1:p.Phe2768Leu
XM_011544033.2:c.10639T>C XP_011542335.1:p.Phe3547Leu
XM_011544036.2:c.8302T>C XP_011542338.1:p.Phe2768Leu
XM_017000150.1:c.10408T>C XP_016855639.1:p.Phe3470Leu
NM_000081.4:c.10477T>C MANE Select NP_000072.2:p.Phe3493Leu