Canonical Allele Identifier: CA1466052

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235751208G>A , CM000663.2:g.235751208G>A	GRCh38
NC_000001.10:g.235914508G>A , CM000663.1:g.235914508G>A	GRCh37
NC_000001.9:g.233981131G>A	NCBI36
NG_007397.1:g.137433C>T , LRG_143:g.137433C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.7780+2C>T MANE Select	NP_000072.2:n.7780+2C>T
ENST00000389793.7:c.7780+2C>T MANE Select	ENSP00000374443.2:n.7780+2C>T
NM_000081.3:c.7780+2C>T , LRG_143t1:c.7780+2C>T	NP_000072.2:n.7780+2C>T
NM_001301365.1:c.7780+2C>T , LRG_143t2:c.7780+2C>T	NP_001288294.1:n.7780+2C>T
ENST00000389793.6:c.7780+2C>T	ENSP00000374443.2:n.7780+2C>T
ENST00000389794.7:c.*3204+2C>T	ENSP00000374444.4:n.*3204+2C>T
ENST00000461526.2:c.2455+2C>T	ENSP00000513165.1:n.2455+2C>T
ENST00000487530.2:c.320+2C>T
ENST00000697178.1:c.*3204+2C>T	ENSP00000513163.1:n.*3204+2C>T
ENST00000697236.1:c.1489+2C>T	ENSP00000513203.1:n.1489+2C>T
ENST00000697241.1:c.2260+2C>T	ENSP00000513206.1:n.2260+2C>T
XM_011544031.1:c.7780+2C>T	XP_011542333.1:n.7780+2C>T
XM_011544032.1:c.7780+2C>T	XP_011542334.1:n.7780+2C>T
XM_011544033.1:c.7780+2C>T	XP_011542335.1:n.7780+2C>T
XM_011544033.2:c.7780+2C>T	XP_011542335.1:n.7780+2C>T
XM_011544034.1:c.7642+2C>T	XP_011542336.1:n.7642+2C>T
XM_011544035.1:c.7780+2C>T	XP_011542337.1:n.7780+2C>T
XM_011544035.2:c.7780+2C>T	XP_011542337.1:n.7780+2C>T
XM_011544036.1:c.5443+2C>T	XP_011542338.1:n.5443+2C>T
XM_011544036.2:c.5443+2C>T	XP_011542338.1:n.5443+2C>T
XM_011544037.1:c.7780+2C>T	XP_011542339.1:n.7780+2C>T
XM_011544037.2:c.7780+2C>T	XP_011542339.1:n.7780+2C>T
XM_011544038.1:c.7780+2C>T	XP_011542340.1:n.7780+2C>T
XM_017000150.1:c.7780+2C>T	XP_016855639.1:n.7780+2C>T
XR_001736946.2:n.7962+2C>T
XR_001736947.1:n.7962+2C>T
XR_001736948.1:n.7411+4270C>T