Canonical Allele Identifier: CA344947232

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235766150A>C , CM000663.2:g.235766150A>C	GRCh38
NC_000001.10:g.235929450A>C , CM000663.1:g.235929450A>C	GRCh37
NC_000001.9:g.233996073A>C	NCBI36
NG_007397.1:g.122491T>G , LRG_143:g.122491T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.6050T>G MANE Select	NP_000072.2:p.Leu2017Ter
ENST00000389793.7:c.6050T>G MANE Select	ENSP00000374443.2:p.Leu2017Ter
NM_000081.3:c.6050T>G , LRG_143t1:c.6050T>G	NP_000072.2:p.Leu2017Ter
NM_001301365.1:c.6050T>G , LRG_143t2:c.6050T>G	NP_001288294.1:p.Leu2017Ter
ENST00000389793.6:c.6050T>G	ENSP00000374443.2:p.Leu2017Ter
ENST00000389794.7:c.*1474T>G	ENSP00000374444.4:n.*1474T>G
ENST00000461526.2:c.725T>G	ENSP00000513165.1:p.Leu242Ter
ENST00000489585.5:n.6512+89T>G
ENST00000697178.1:c.*1474T>G	ENSP00000513163.1:n.*1474T>G
ENST00000697180.1:c.558-3T>G
ENST00000697241.1:c.482T>G	ENSP00000513206.1:p.Leu161Ter
XM_011544031.1:c.6050T>G	XP_011542333.1:p.Leu2017Ter
XM_011544032.1:c.6050T>G	XP_011542334.1:p.Leu2017Ter
XM_011544033.1:c.6050T>G	XP_011542335.1:p.Leu2017Ter
XM_011544033.2:c.6050T>G	XP_011542335.1:p.Leu2017Ter
XM_011544034.1:c.5912T>G	XP_011542336.1:p.Leu1971Ter
XM_011544035.1:c.6050T>G	XP_011542337.1:p.Leu2017Ter
XM_011544035.2:c.6050T>G	XP_011542337.1:p.Leu2017Ter
XM_011544036.1:c.3713T>G	XP_011542338.1:p.Leu1238Ter
XM_011544036.2:c.3713T>G	XP_011542338.1:p.Leu1238Ter
XM_011544037.1:c.6050T>G	XP_011542339.1:p.Leu2017Ter
XM_011544037.2:c.6050T>G	XP_011542339.1:p.Leu2017Ter
XM_011544038.1:c.6050T>G	XP_011542340.1:p.Leu2017Ter
XM_011544039.1:c.6050T>G	XP_011542341.1:p.Leu2017Ter
XM_011544039.2:c.6050T>G	XP_011542341.1:p.Leu2017Ter
XM_011544040.1:c.5962-3T>G	XP_011542342.1:n.5962-3T>G
XM_017000150.1:c.6050T>G	XP_016855639.1:p.Leu2017Ter
XM_017000151.1:c.5824-3T>G	XP_016855640.1:n.5824-3T>G
XR_001736946.2:n.6232T>G
XR_001736947.1:n.6232T>G
XR_001736948.1:n.6232T>G
XR_002959252.1:n.6144-3T>G