Canonical Allele Identifier: CA39597018

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235712108C>A , CM000663.2:g.235712108C>A	GRCh38
NC_000001.10:g.235875408C>A , CM000663.1:g.235875408C>A	GRCh37
NC_000001.9:g.233942031C>A	NCBI36
NG_007397.1:g.176533G>T , LRG_143:g.176533G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.9874G>T MANE Select	NP_000072.2:p.Glu3292Ter
ENST00000389793.7:c.9874G>T MANE Select	ENSP00000374443.2:p.Glu3292Ter
NM_000081.3:c.9874G>T , LRG_143t1:c.9874G>T	NP_000072.2:p.Glu3292Ter
NM_001301365.1:c.9874G>T , LRG_143t2:c.9874G>T	NP_001288294.1:p.Glu3292Ter
ENST00000389793.6:c.9874G>T	ENSP00000374443.2:p.Glu3292Ter
ENST00000389794.7:c.*5298G>T	ENSP00000374444.4:n.*5298G>T
ENST00000462376.1:n.293G>T
ENST00000462376.2:n.1284G>T
ENST00000473037.5:n.4864G>T
ENST00000697178.1:c.*5569G>T	ENSP00000513163.1:n.*5569G>T
ENST00000697179.1:n.2583G>T
ENST00000697235.1:c.424G>T	ENSP00000513202.1:p.Glu142Ter
ENST00000697236.1:c.3338G>T	ENSP00000513203.1:n.3338G>T
ENST00000697237.1:c.741-2904G>T
ENST00000697240.1:c.2008G>T	ENSP00000513205.1:p.Glu670Ter
XM_011544031.1:c.10036G>T	XP_011542333.1:p.Glu3346Ter
XM_011544032.1:c.10036G>T	XP_011542334.1:p.Glu3346Ter
XM_011544033.1:c.10036G>T	XP_011542335.1:p.Glu3346Ter
XM_011544033.2:c.10036G>T	XP_011542335.1:p.Glu3346Ter
XM_011544034.1:c.9898G>T	XP_011542336.1:p.Glu3300Ter
XM_011544036.1:c.7699G>T	XP_011542338.1:p.Glu2567Ter
XM_011544036.2:c.7699G>T	XP_011542338.1:p.Glu2567Ter
XM_017000150.1:c.10036G>T	XP_016855639.1:p.Glu3346Ter