Canonical Allele Identifier: CA344950104

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235731110G>A , CM000663.2:g.235731110G>A	GRCh38
NC_000001.10:g.235894410G>A , CM000663.1:g.235894410G>A	GRCh37
NC_000001.9:g.233961033G>A	NCBI36
NG_007397.1:g.157531C>T , LRG_143:g.157531C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.8869C>T MANE Select	NP_000072.2:p.Arg2957Ter
ENST00000389793.7:c.8869C>T MANE Select	ENSP00000374443.2:p.Arg2957Ter
NM_000081.3:c.8869C>T , LRG_143t1:c.8869C>T	NP_000072.2:p.Arg2957Ter
NM_001301365.1:c.8869C>T , LRG_143t2:c.8869C>T	NP_001288294.1:p.Arg2957Ter
ENST00000389793.6:c.8869C>T	ENSP00000374443.2:p.Arg2957Ter
ENST00000389794.7:c.*4293C>T	ENSP00000374444.4:n.*4293C>T
ENST00000461526.2:c.4397C>T	ENSP00000513165.1:n.4397C>T
ENST00000473037.5:n.3859C>T
ENST00000475277.2:c.964C>T	ENSP00000513164.1:p.Arg322Ter
ENST00000697178.1:c.*4293C>T	ENSP00000513163.1:n.*4293C>T
ENST00000697236.1:c.2578C>T	ENSP00000513203.1:p.Arg860Ter
ENST00000697240.1:c.1003C>T	ENSP00000513205.1:p.Arg335Ter
ENST00000697241.1:c.3349C>T	ENSP00000513206.1:p.Arg1117Ter
XM_011544031.1:c.9031C>T	XP_011542333.1:p.Arg3011Ter
XM_011544032.1:c.9031C>T	XP_011542334.1:p.Arg3011Ter
XM_011544033.1:c.9031C>T	XP_011542335.1:p.Arg3011Ter
XM_011544033.2:c.9031C>T	XP_011542335.1:p.Arg3011Ter
XM_011544034.1:c.8893C>T	XP_011542336.1:p.Arg2965Ter
XM_011544035.1:c.9031C>T	XP_011542337.1:p.Arg3011Ter
XM_011544035.2:c.9031C>T	XP_011542337.1:p.Arg3011Ter
XM_011544036.1:c.6694C>T	XP_011542338.1:p.Arg2232Ter
XM_011544036.2:c.6694C>T	XP_011542338.1:p.Arg2232Ter
XM_017000150.1:c.9031C>T	XP_016855639.1:p.Arg3011Ter
XR_001736947.1:n.9904C>T