Canonical Allele Identifier: CA1466156
Gene: LYST HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235753136A>G , CM000663.2:g.235753136A>G GRCh38
NC_000001.10:g.235916436A>G , CM000663.1:g.235916436A>G GRCh37
NC_000001.9:g.233983059A>G NCBI36
NG_007397.1:g.135505T>C , LRG_143:g.135505T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000461526.2:c.2043T>C ENSP00000513165.1:p.Asn681=
ENST00000697178.1:c.*2792T>C ENSP00000513163.1:n.*2792T>C
ENST00000697236.1:c.1077T>C ENSP00000513203.1:p.Asn359=
ENST00000697241.1:c.1848T>C ENSP00000513206.1:p.Asn616=
ENST00000389793.7:c.7368T>C MANE Select ENSP00000374443.2:p.Asn2456=
ENST00000389793.6:c.7368T>C ENSP00000374443.2:p.Asn2456=
ENST00000389794.7:c.*2792T>C ENSP00000374444.4:n.*2792T>C
NM_000081.3:c.7368T>C , LRG_143t1:c.7368T>C NP_000072.2:p.Asn2456=
NM_001301365.1:c.7368T>C , LRG_143t2:c.7368T>C NP_001288294.1:p.Asn2456=
XM_011544031.1:c.7368T>C XP_011542333.1:p.Asn2456=
XM_011544032.1:c.7368T>C XP_011542334.1:p.Asn2456=
XM_011544033.1:c.7368T>C XP_011542335.1:p.Asn2456=
XM_011544034.1:c.7230T>C XP_011542336.1:p.Asn2410=
XM_011544035.1:c.7368T>C XP_011542337.1:p.Asn2456=
XM_011544036.1:c.5031T>C XP_011542338.1:p.Asn1677=
XM_011544037.1:c.7368T>C XP_011542339.1:p.Asn2456=
XM_011544038.1:c.7368T>C XP_011542340.1:p.Asn2456=
XM_011544039.1:c.7368T>C XP_011542341.1:p.Asn2456=
XM_011544033.2:c.7368T>C XP_011542335.1:p.Asn2456=
XM_011544035.2:c.7368T>C XP_011542337.1:p.Asn2456=
XM_011544036.2:c.5031T>C XP_011542338.1:p.Asn1677=
XM_011544037.2:c.7368T>C XP_011542339.1:p.Asn2456=
XM_011544039.2:c.7368T>C XP_011542341.1:p.Asn2456=
XM_017000150.1:c.7368T>C XP_016855639.1:p.Asn2456=
XR_001736946.2:n.7550T>C
XR_001736947.1:n.7550T>C
XR_001736948.1:n.7411+2342T>C
NM_000081.4:c.7368T>C MANE Select NP_000072.2:p.Asn2456=