Canonical Allele Identifier: CA344929045
Gene: LYST HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235697168A>T , CM000663.2:g.235697168A>T GRCh38
NC_000001.10:g.235860468A>T , CM000663.1:g.235860468A>T GRCh37
NC_000001.9:g.233927091A>T NCBI36
NG_007397.1:g.191473T>A , LRG_143:g.191473T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000462376.2:n.1889T>A
ENST00000697178.1:c.*6174T>A ENSP00000513163.1:n.*6174T>A
ENST00000697179.1:n.3188T>A
ENST00000697235.1:c.1029T>A ENSP00000513202.1:p.Phe343Leu
ENST00000697236.1:c.3943T>A ENSP00000513203.1:n.3943T>A
ENST00000697237.1:c.1190T>A
ENST00000697240.1:c.2613T>A ENSP00000513205.1:p.Phe871Leu
ENST00000389793.7:c.10479T>A MANE Select ENSP00000374443.2:p.Phe3493Leu
ENST00000389793.6:c.10479T>A ENSP00000374443.2:p.Phe3493Leu
ENST00000389794.7:c.*5903T>A ENSP00000374444.4:n.*5903T>A
ENST00000473037.5:n.5469T>A
NM_000081.3:c.10479T>A , LRG_143t1:c.10479T>A NP_000072.2:p.Phe3493Leu
NM_001301365.1:c.10479T>A , LRG_143t2:c.10479T>A NP_001288294.1:p.Phe3493Leu
XM_011544031.1:c.10641T>A XP_011542333.1:p.Phe3547Leu
XM_011544032.1:c.10641T>A XP_011542334.1:p.Phe3547Leu
XM_011544033.1:c.10641T>A XP_011542335.1:p.Phe3547Leu
XM_011544034.1:c.10503T>A XP_011542336.1:p.Phe3501Leu
XM_011544036.1:c.8304T>A XP_011542338.1:p.Phe2768Leu
XM_011544033.2:c.10641T>A XP_011542335.1:p.Phe3547Leu
XM_011544036.2:c.8304T>A XP_011542338.1:p.Phe2768Leu
XM_017000150.1:c.10410T>A XP_016855639.1:p.Phe3470Leu
NM_000081.4:c.10479T>A MANE Select NP_000072.2:p.Phe3493Leu