Canonical Allele Identifier: CA344947787

Gene: LYST

Linked Data

• dbSNP Id: rs28942077
• gnomAD v2: 1-235929504-A-G
• gnomAD v4: 1-235766204-A-G
• MyVariant Identifiers: chr1:g.235929504A>G (hg19) ; chr1:g.235766204A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235766204A>G , CM000663.2:g.235766204A>G	GRCh38
NC_000001.10:g.235929504A>G , CM000663.1:g.235929504A>G	GRCh37
NC_000001.9:g.233996127A>G	NCBI36
NG_007397.1:g.122437T>C , LRG_143:g.122437T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461526.2:c.671T>C	ENSP00000513165.1:p.Val224Ala
ENST00000697178.1:c.*1420T>C	ENSP00000513163.1:n.*1420T>C
ENST00000697180.1:c.557+35T>C
ENST00000697241.1:c.428T>C	ENSP00000513206.1:p.Val143Ala
ENST00000389793.7:c.5996T>C MANE Select	ENSP00000374443.2:p.Val1999Ala
ENST00000389793.6:c.5996T>C	ENSP00000374443.2:p.Val1999Ala
ENST00000389794.7:c.*1420T>C	ENSP00000374444.4:n.*1420T>C
ENST00000489585.5:n.6512+35T>C
NM_000081.3:c.5996T>C , LRG_143t1:c.5996T>C	NP_000072.2:p.Val1999Ala
NM_001301365.1:c.5996T>C , LRG_143t2:c.5996T>C	NP_001288294.1:p.Val1999Ala
XM_011544031.1:c.5996T>C	XP_011542333.1:p.Val1999Ala
XM_011544032.1:c.5996T>C	XP_011542334.1:p.Val1999Ala
XM_011544033.1:c.5996T>C	XP_011542335.1:p.Val1999Ala
XM_011544034.1:c.5858T>C	XP_011542336.1:p.Val1953Ala
XM_011544035.1:c.5996T>C	XP_011542337.1:p.Val1999Ala
XM_011544036.1:c.3659T>C	XP_011542338.1:p.Val1220Ala
XM_011544037.1:c.5996T>C	XP_011542339.1:p.Val1999Ala
XM_011544038.1:c.5996T>C	XP_011542340.1:p.Val1999Ala
XM_011544039.1:c.5996T>C	XP_011542341.1:p.Val1999Ala
XM_011544040.1:c.5961+35T>C	XP_011542342.1:n.5961+35T>C
XM_011544033.2:c.5996T>C	XP_011542335.1:p.Val1999Ala
XM_011544035.2:c.5996T>C	XP_011542337.1:p.Val1999Ala
XM_011544036.2:c.3659T>C	XP_011542338.1:p.Val1220Ala
XM_011544037.2:c.5996T>C	XP_011542339.1:p.Val1999Ala
XM_011544039.2:c.5996T>C	XP_011542341.1:p.Val1999Ala
XM_017000150.1:c.5996T>C	XP_016855639.1:p.Val1999Ala
XM_017000151.1:c.5823+35T>C	XP_016855640.1:n.5823+35T>C
XR_001736946.2:n.6178T>C
XR_001736947.1:n.6178T>C
XR_001736948.1:n.6178T>C
XR_002959252.1:n.6143+35T>C
NM_000081.4:c.5996T>C MANE Select	NP_000072.2:p.Val1999Ala