Canonical Allele Identifier: CA344935272

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235709207G>A , CM000663.2:g.235709207G>A	GRCh38
NC_000001.10:g.235872507G>A , CM000663.1:g.235872507G>A	GRCh37
NC_000001.9:g.233939130G>A	NCBI36
NG_007397.1:g.179434C>T , LRG_143:g.179434C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.10027C>T MANE Select	NP_000072.2:p.Gln3343Ter
ENST00000389793.7:c.10027C>T MANE Select	ENSP00000374443.2:p.Gln3343Ter
NM_000081.3:c.10027C>T , LRG_143t1:c.10027C>T	NP_000072.2:p.Gln3343Ter
NM_001301365.1:c.10027C>T , LRG_143t2:c.10027C>T	NP_001288294.1:p.Gln3343Ter
ENST00000389793.6:c.10027C>T	ENSP00000374443.2:p.Gln3343Ter
ENST00000389794.7:c.*5451C>T	ENSP00000374444.4:n.*5451C>T
ENST00000462376.1:n.446C>T
ENST00000462376.2:n.1437C>T
ENST00000473037.5:n.5017C>T
ENST00000697178.1:c.*5722C>T	ENSP00000513163.1:n.*5722C>T
ENST00000697179.1:n.2736C>T
ENST00000697235.1:c.577C>T	ENSP00000513202.1:p.Gln193Ter
ENST00000697236.1:c.3491C>T	ENSP00000513203.1:n.3491C>T
ENST00000697237.1:c.741-3C>T
ENST00000697240.1:c.2161C>T	ENSP00000513205.1:p.Gln721Ter
XM_011544031.1:c.10189C>T	XP_011542333.1:p.Gln3397Ter
XM_011544032.1:c.10189C>T	XP_011542334.1:p.Gln3397Ter
XM_011544033.1:c.10189C>T	XP_011542335.1:p.Gln3397Ter
XM_011544033.2:c.10189C>T	XP_011542335.1:p.Gln3397Ter
XM_011544034.1:c.10051C>T	XP_011542336.1:p.Gln3351Ter
XM_011544036.1:c.7852C>T	XP_011542338.1:p.Gln2618Ter
XM_011544036.2:c.7852C>T	XP_011542338.1:p.Gln2618Ter
XM_017000150.1:c.10189C>T	XP_016855639.1:p.Gln3397Ter