Canonical Allele Identifier: CA1466258
Community Standard Title: NM_000081.4(LYST):c.6931C>T (p.Leu2311=)
Gene: LYST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235757409G>A , CM000663.2:g.235757409G>A GRCh38
NC_000001.10:g.235920709G>A , CM000663.1:g.235920709G>A GRCh37
NC_000001.9:g.233987332G>A NCBI36
NG_007397.1:g.131232C>T , LRG_143:g.131232C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000081.4:c.6931C>T MANE Select NP_000072.2:p.Leu2311=
ENST00000389793.7:c.6931C>T MANE Select ENSP00000374443.2:p.Leu2311=
NM_000081.3:c.6931C>T , LRG_143t1:c.6931C>T NP_000072.2:p.Leu2311=
NM_001301365.1:c.6931C>T , LRG_143t2:c.6931C>T NP_001288294.1:p.Leu2311=
ENST00000389793.6:c.6931C>T ENSP00000374443.2:p.Leu2311=
ENST00000389794.7:c.*2355C>T ENSP00000374444.4:n.*2355C>T
ENST00000461526.2:c.1606C>T ENSP00000513165.1:p.Leu536=
ENST00000697178.1:c.*2355C>T ENSP00000513163.1:n.*2355C>T
ENST00000697236.1:c.640C>T ENSP00000513203.1:p.Leu214=
ENST00000697241.1:c.1363C>T ENSP00000513206.1:p.Leu455=
XM_011544031.1:c.6931C>T XP_011542333.1:p.Leu2311=
XM_011544032.1:c.6931C>T XP_011542334.1:p.Leu2311=
XM_011544033.1:c.6931C>T XP_011542335.1:p.Leu2311=
XM_011544033.2:c.6931C>T XP_011542335.1:p.Leu2311=
XM_011544034.1:c.6793C>T XP_011542336.1:p.Leu2265=
XM_011544035.1:c.6931C>T XP_011542337.1:p.Leu2311=
XM_011544035.2:c.6931C>T XP_011542337.1:p.Leu2311=
XM_011544036.1:c.4594C>T XP_011542338.1:p.Leu1532=
XM_011544036.2:c.4594C>T XP_011542338.1:p.Leu1532=
XM_011544037.1:c.6931C>T XP_011542339.1:p.Leu2311=
XM_011544037.2:c.6931C>T XP_011542339.1:p.Leu2311=
XM_011544038.1:c.6931C>T XP_011542340.1:p.Leu2311=
XM_011544039.1:c.6931C>T XP_011542341.1:p.Leu2311=
XM_011544039.2:c.6931C>T XP_011542341.1:p.Leu2311=
XM_017000150.1:c.6931C>T XP_016855639.1:p.Leu2311=
XR_001736946.2:n.7113C>T
XR_001736947.1:n.7113C>T
XR_001736948.1:n.7113C>T