Canonical Allele Identifier: CA344938885

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235758991G>A , CM000663.2:g.235758991G>A	GRCh38
NC_000001.10:g.235922291G>A , CM000663.1:g.235922291G>A	GRCh37
NC_000001.9:g.233988914G>A	NCBI36
NG_007397.1:g.129650C>T , LRG_143:g.129650C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.6862C>T MANE Select	NP_000072.2:p.Arg2288Ter
ENST00000389793.7:c.6862C>T MANE Select	ENSP00000374443.2:p.Arg2288Ter
NM_000081.3:c.6862C>T , LRG_143t1:c.6862C>T	NP_000072.2:p.Arg2288Ter
NM_001301365.1:c.6862C>T , LRG_143t2:c.6862C>T	NP_001288294.1:p.Arg2288Ter
ENST00000389793.6:c.6862C>T	ENSP00000374443.2:p.Arg2288Ter
ENST00000389794.7:c.*2286C>T	ENSP00000374444.4:n.*2286C>T
ENST00000461526.2:c.1537C>T	ENSP00000513165.1:p.Arg513Ter
ENST00000697178.1:c.*2286C>T	ENSP00000513163.1:n.*2286C>T
ENST00000697236.1:c.571C>T	ENSP00000513203.1:p.Arg191Ter
ENST00000697241.1:c.1294C>T	ENSP00000513206.1:p.Arg432Ter
XM_011544031.1:c.6862C>T	XP_011542333.1:p.Arg2288Ter
XM_011544032.1:c.6862C>T	XP_011542334.1:p.Arg2288Ter
XM_011544033.1:c.6862C>T	XP_011542335.1:p.Arg2288Ter
XM_011544033.2:c.6862C>T	XP_011542335.1:p.Arg2288Ter
XM_011544034.1:c.6724C>T	XP_011542336.1:p.Arg2242Ter
XM_011544035.1:c.6862C>T	XP_011542337.1:p.Arg2288Ter
XM_011544035.2:c.6862C>T	XP_011542337.1:p.Arg2288Ter
XM_011544036.1:c.4525C>T	XP_011542338.1:p.Arg1509Ter
XM_011544036.2:c.4525C>T	XP_011542338.1:p.Arg1509Ter
XM_011544037.1:c.6862C>T	XP_011542339.1:p.Arg2288Ter
XM_011544037.2:c.6862C>T	XP_011542339.1:p.Arg2288Ter
XM_011544038.1:c.6862C>T	XP_011542340.1:p.Arg2288Ter
XM_011544039.1:c.6862C>T	XP_011542341.1:p.Arg2288Ter
XM_011544039.2:c.6862C>T	XP_011542341.1:p.Arg2288Ter
XM_017000150.1:c.6862C>T	XP_016855639.1:p.Arg2288Ter
XR_001736946.2:n.7044C>T
XR_001736947.1:n.7044C>T
XR_001736948.1:n.7044C>T