Canonical Allele Identifier: CA39595134

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235709244C>T , CM000663.2:g.235709244C>T	GRCh38
NC_000001.10:g.235872544C>T , CM000663.1:g.235872544C>T	GRCh37
NC_000001.9:g.233939167C>T	NCBI36
NG_007397.1:g.179397G>A , LRG_143:g.179397G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.9990G>A MANE Select	NP_000072.2:p.Ala3330=
ENST00000389793.7:c.9990G>A MANE Select	ENSP00000374443.2:p.Ala3330=
NM_000081.3:c.9990G>A , LRG_143t1:c.9990G>A	NP_000072.2:p.Ala3330=
NM_001301365.1:c.9990G>A , LRG_143t2:c.9990G>A	NP_001288294.1:p.Ala3330=
ENST00000389793.6:c.9990G>A	ENSP00000374443.2:p.Ala3330=
ENST00000389794.7:c.*5414G>A	ENSP00000374444.4:n.*5414G>A
ENST00000462376.1:n.409G>A
ENST00000462376.2:n.1400G>A
ENST00000473037.5:n.4980G>A
ENST00000697178.1:c.*5685G>A	ENSP00000513163.1:n.*5685G>A
ENST00000697179.1:n.2699G>A
ENST00000697235.1:c.540G>A	ENSP00000513202.1:p.Ala180=
ENST00000697236.1:c.3454G>A	ENSP00000513203.1:n.3454G>A
ENST00000697237.1:c.741-40G>A
ENST00000697240.1:c.2124G>A	ENSP00000513205.1:p.Ala708=
XM_011544031.1:c.10152G>A	XP_011542333.1:p.Ala3384=
XM_011544032.1:c.10152G>A	XP_011542334.1:p.Ala3384=
XM_011544033.1:c.10152G>A	XP_011542335.1:p.Ala3384=
XM_011544033.2:c.10152G>A	XP_011542335.1:p.Ala3384=
XM_011544034.1:c.10014G>A	XP_011542336.1:p.Ala3338=
XM_011544036.1:c.7815G>A	XP_011542338.1:p.Ala2605=
XM_011544036.2:c.7815G>A	XP_011542338.1:p.Ala2605=
XM_017000150.1:c.10152G>A	XP_016855639.1:p.Ala3384=