Canonical Allele Identifier: CA344957843

Gene: LYST

Linked Data

• ClinVar Variation Id: 571664
• ClinVar RCV Id: RCV000692870
• MyVariant Identifiers: chr1:g.235970023C>A (hg19) ; chr1:g.235806723C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235806723C>A , CM000663.2:g.235806723C>A	GRCh38
NC_000001.10:g.235970023C>A , CM000663.1:g.235970023C>A	GRCh37
NC_000001.9:g.234036646C>A	NCBI36
NG_007397.1:g.81918G>T , LRG_143:g.81918G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697178.1:c.2413G>T	ENSP00000513163.1:p.Glu805Ter
ENST00000697242.1:c.1816G>T	ENSP00000513207.1:p.Glu606Ter
ENST00000389793.7:c.2413G>T MANE Select	ENSP00000374443.2:p.Glu805Ter
ENST00000389793.6:c.2413G>T	ENSP00000374443.2:p.Glu805Ter
ENST00000389794.7:c.2413G>T	ENSP00000374444.4:p.Glu805Ter
ENST00000465349.5:n.2964G>T
ENST00000489585.5:n.2964G>T
NM_000081.3:c.2413G>T , LRG_143t1:c.2413G>T	NP_000072.2:p.Glu805Ter
NM_001301365.1:c.2413G>T , LRG_143t2:c.2413G>T	NP_001288294.1:p.Glu805Ter
XM_011544031.1:c.2413G>T	XP_011542333.1:p.Glu805Ter
XM_011544032.1:c.2413G>T	XP_011542334.1:p.Glu805Ter
XM_011544033.1:c.2413G>T	XP_011542335.1:p.Glu805Ter
XM_011544034.1:c.2413G>T	XP_011542336.1:p.Glu805Ter
XM_011544035.1:c.2413G>T	XP_011542337.1:p.Glu805Ter
XM_011544036.1:c.76G>T	XP_011542338.1:p.Glu26Ter
XM_011544037.1:c.2413G>T	XP_011542339.1:p.Glu805Ter
XM_011544038.1:c.2413G>T	XP_011542340.1:p.Glu805Ter
XM_011544039.1:c.2413G>T	XP_011542341.1:p.Glu805Ter
XM_011544040.1:c.2413G>T	XP_011542342.1:p.Glu805Ter
XM_011544033.2:c.2413G>T	XP_011542335.1:p.Glu805Ter
XM_011544035.2:c.2413G>T	XP_011542337.1:p.Glu805Ter
XM_011544036.2:c.76G>T	XP_011542338.1:p.Glu26Ter
XM_011544037.2:c.2413G>T	XP_011542339.1:p.Glu805Ter
XM_011544039.2:c.2413G>T	XP_011542341.1:p.Glu805Ter
XM_017000150.1:c.2413G>T	XP_016855639.1:p.Glu805Ter
XM_017000151.1:c.2413G>T	XP_016855640.1:p.Glu805Ter
XR_001736946.2:n.2595G>T
XR_001736947.1:n.2595G>T
XR_001736948.1:n.2595G>T
XR_002959252.1:n.2595G>T
NM_000081.4:c.2413G>T MANE Select	NP_000072.2:p.Glu805Ter