Canonical Allele Identifier: CA1466331
Community Standard Title: NM_000081.4(LYST):c.6682G>C (p.Asp2228His)
Gene: LYST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235759171C>G , CM000663.2:g.235759171C>G GRCh38
NC_000001.10:g.235922471C>G , CM000663.1:g.235922471C>G GRCh37
NC_000001.9:g.233989094C>G NCBI36
NG_007397.1:g.129470G>C , LRG_143:g.129470G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000081.4:c.6682G>C MANE Select NP_000072.2:p.Asp2228His
ENST00000389793.7:c.6682G>C MANE Select ENSP00000374443.2:p.Asp2228His
NM_000081.3:c.6682G>C , LRG_143t1:c.6682G>C NP_000072.2:p.Asp2228His
NM_001301365.1:c.6682G>C , LRG_143t2:c.6682G>C NP_001288294.1:p.Asp2228His
ENST00000389793.6:c.6682G>C ENSP00000374443.2:p.Asp2228His
ENST00000389794.7:c.*2106G>C ENSP00000374444.4:n.*2106G>C
ENST00000461526.2:c.1357G>C ENSP00000513165.1:p.Asp453His
ENST00000697178.1:c.*2106G>C ENSP00000513163.1:n.*2106G>C
ENST00000697236.1:c.391G>C ENSP00000513203.1:p.Asp131His
ENST00000697241.1:c.1114G>C ENSP00000513206.1:p.Asp372His
XM_011544031.1:c.6682G>C XP_011542333.1:p.Asp2228His
XM_011544032.1:c.6682G>C XP_011542334.1:p.Asp2228His
XM_011544033.1:c.6682G>C XP_011542335.1:p.Asp2228His
XM_011544033.2:c.6682G>C XP_011542335.1:p.Asp2228His
XM_011544034.1:c.6544G>C XP_011542336.1:p.Asp2182His
XM_011544035.1:c.6682G>C XP_011542337.1:p.Asp2228His
XM_011544035.2:c.6682G>C XP_011542337.1:p.Asp2228His
XM_011544036.1:c.4345G>C XP_011542338.1:p.Asp1449His
XM_011544036.2:c.4345G>C XP_011542338.1:p.Asp1449His
XM_011544037.1:c.6682G>C XP_011542339.1:p.Asp2228His
XM_011544037.2:c.6682G>C XP_011542339.1:p.Asp2228His
XM_011544038.1:c.6682G>C XP_011542340.1:p.Asp2228His
XM_011544039.1:c.6682G>C XP_011542341.1:p.Asp2228His
XM_011544039.2:c.6682G>C XP_011542341.1:p.Asp2228His
XM_017000150.1:c.6682G>C XP_016855639.1:p.Asp2228His
XR_001736946.2:n.6864G>C
XR_001736947.1:n.6864G>C
XR_001736948.1:n.6864G>C