Canonical Allele Identifier: CA39605025

Gene: LYST

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235724099A>G , CM000663.2:g.235724099A>G	GRCh38
NC_000001.10:g.235887399A>G , CM000663.1:g.235887399A>G	GRCh37
NC_000001.9:g.233954022A>G	NCBI36
NG_007397.1:g.164542T>C , LRG_143:g.164542T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000081.4:c.9244T>C MANE Select	NP_000072.2:p.Leu3082=
ENST00000389793.7:c.9244T>C MANE Select	ENSP00000374443.2:p.Leu3082=
NM_000081.3:c.9244T>C , LRG_143t1:c.9244T>C	NP_000072.2:p.Leu3082=
NM_001301365.1:c.9244T>C , LRG_143t2:c.9244T>C	NP_001288294.1:p.Leu3082=
ENST00000389793.6:c.9244T>C	ENSP00000374443.2:p.Leu3082=
ENST00000389794.7:c.*4668T>C	ENSP00000374444.4:n.*4668T>C
ENST00000461526.2:c.4772T>C	ENSP00000513165.1:n.4772T>C
ENST00000473037.5:n.4234T>C
ENST00000475277.1:n.110T>C
ENST00000475277.2:c.1339T>C	ENSP00000513164.1:p.Leu447=
ENST00000697178.1:c.*4668T>C	ENSP00000513163.1:n.*4668T>C
ENST00000697236.1:c.2953T>C	ENSP00000513203.1:p.Leu985=
ENST00000697237.1:c.200T>C
ENST00000697240.1:c.1378T>C	ENSP00000513205.1:p.Leu460=
ENST00000697241.1:c.3724T>C	ENSP00000513206.1:p.Leu1242=
XM_011544031.1:c.9406T>C	XP_011542333.1:p.Leu3136=
XM_011544032.1:c.9406T>C	XP_011542334.1:p.Leu3136=
XM_011544033.1:c.9406T>C	XP_011542335.1:p.Leu3136=
XM_011544033.2:c.9406T>C	XP_011542335.1:p.Leu3136=
XM_011544034.1:c.9268T>C	XP_011542336.1:p.Leu3090=
XM_011544035.1:c.9406T>C	XP_011542337.1:p.Leu3136=
XM_011544035.2:c.9406T>C	XP_011542337.1:p.Leu3136=
XM_011544036.1:c.7069T>C	XP_011542338.1:p.Leu2357=
XM_011544036.2:c.7069T>C	XP_011542338.1:p.Leu2357=
XM_017000150.1:c.9406T>C	XP_016855639.1:p.Leu3136=
XR_001736947.1:n.10279T>C