Canonical Allele Identifier: CA1466159
Community Standard Title: NM_000081.4(LYST):c.7340C>T (p.Ala2447Val)
Gene: LYST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235753164G>A , CM000663.2:g.235753164G>A GRCh38
NC_000001.10:g.235916464G>A , CM000663.1:g.235916464G>A GRCh37
NC_000001.9:g.233983087G>A NCBI36
NG_007397.1:g.135477C>T , LRG_143:g.135477C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000081.4:c.7340C>T MANE Select NP_000072.2:p.Ala2447Val
ENST00000389793.7:c.7340C>T MANE Select ENSP00000374443.2:p.Ala2447Val
NM_000081.3:c.7340C>T , LRG_143t1:c.7340C>T NP_000072.2:p.Ala2447Val
NM_001301365.1:c.7340C>T , LRG_143t2:c.7340C>T NP_001288294.1:p.Ala2447Val
ENST00000389793.6:c.7340C>T ENSP00000374443.2:p.Ala2447Val
ENST00000389794.7:c.*2764C>T ENSP00000374444.4:n.*2764C>T
ENST00000461526.2:c.2015C>T ENSP00000513165.1:p.Ala672Val
ENST00000697178.1:c.*2764C>T ENSP00000513163.1:n.*2764C>T
ENST00000697236.1:c.1049C>T ENSP00000513203.1:p.Ala350Val
ENST00000697241.1:c.1820C>T ENSP00000513206.1:p.Ala607Val
XM_011544031.1:c.7340C>T XP_011542333.1:p.Ala2447Val
XM_011544032.1:c.7340C>T XP_011542334.1:p.Ala2447Val
XM_011544033.1:c.7340C>T XP_011542335.1:p.Ala2447Val
XM_011544033.2:c.7340C>T XP_011542335.1:p.Ala2447Val
XM_011544034.1:c.7202C>T XP_011542336.1:p.Ala2401Val
XM_011544035.1:c.7340C>T XP_011542337.1:p.Ala2447Val
XM_011544035.2:c.7340C>T XP_011542337.1:p.Ala2447Val
XM_011544036.1:c.5003C>T XP_011542338.1:p.Ala1668Val
XM_011544036.2:c.5003C>T XP_011542338.1:p.Ala1668Val
XM_011544037.1:c.7340C>T XP_011542339.1:p.Ala2447Val
XM_011544037.2:c.7340C>T XP_011542339.1:p.Ala2447Val
XM_011544038.1:c.7340C>T XP_011542340.1:p.Ala2447Val
XM_011544039.1:c.7340C>T XP_011542341.1:p.Ala2447Val
XM_011544039.2:c.7340C>T XP_011542341.1:p.Ala2447Val
XM_017000150.1:c.7340C>T XP_016855639.1:p.Ala2447Val
XR_001736946.2:n.7522C>T
XR_001736947.1:n.7522C>T
XR_001736948.1:n.7411+2314C>T