Canonical Allele Identifier: CA1466801
Gene: LYST HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235788823T>G , CM000663.2:g.235788823T>G GRCh38
NC_000001.10:g.235952123T>G , CM000663.1:g.235952123T>G GRCh37
NC_000001.9:g.234018746T>G NCBI36
NG_007397.1:g.99818A>C , LRG_143:g.99818A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697178.1:c.4139A>C ENSP00000513163.1:p.Gln1380Pro
ENST00000389793.7:c.4566A>C MANE Select ENSP00000374443.2:p.Ala1522=
ENST00000389793.6:c.4566A>C ENSP00000374443.2:p.Ala1522=
ENST00000389794.7:c.4139A>C ENSP00000374444.4:p.Gln1380Pro
ENST00000489585.5:n.5117A>C
ENST00000492844.1:n.26A>C
NM_000081.3:c.4566A>C , LRG_143t1:c.4566A>C NP_000072.2:p.Ala1522=
NM_001301365.1:c.4566A>C , LRG_143t2:c.4566A>C NP_001288294.1:p.Ala1522=
XM_011544031.1:c.4566A>C XP_011542333.1:p.Ala1522=
XM_011544032.1:c.4566A>C XP_011542334.1:p.Ala1522=
XM_011544033.1:c.4566A>C XP_011542335.1:p.Ala1522=
XM_011544034.1:c.4566A>C XP_011542336.1:p.Ala1522=
XM_011544035.1:c.4566A>C XP_011542337.1:p.Ala1522=
XM_011544036.1:c.2229A>C XP_011542338.1:p.Ala743=
XM_011544037.1:c.4566A>C XP_011542339.1:p.Ala1522=
XM_011544038.1:c.4566A>C XP_011542340.1:p.Ala1522=
XM_011544039.1:c.4566A>C XP_011542341.1:p.Ala1522=
XM_011544040.1:c.4566A>C XP_011542342.1:p.Ala1522=
XM_011544033.2:c.4566A>C XP_011542335.1:p.Ala1522=
XM_011544035.2:c.4566A>C XP_011542337.1:p.Ala1522=
XM_011544036.2:c.2229A>C XP_011542338.1:p.Ala743=
XM_011544037.2:c.4566A>C XP_011542339.1:p.Ala1522=
XM_011544039.2:c.4566A>C XP_011542341.1:p.Ala1522=
XM_017000150.1:c.4566A>C XP_016855639.1:p.Ala1522=
XM_017000151.1:c.4566A>C XP_016855640.1:p.Ala1522=
XR_001736946.2:n.4748A>C
XR_001736947.1:n.4748A>C
XR_001736948.1:n.4748A>C
XR_002959252.1:n.4748A>C
NM_000081.4:c.4566A>C MANE Select NP_000072.2:p.Ala1522=