Canonical Allele Identifier: CA1466464

Gene: LYST

Linked Data

• ClinVar Variation Id: 2197844
• ClinVar RCV Id: RCV002638010
• dbSNP Id: rs202201080
• ExAC: 1:235929411 T / C
• gnomAD v2: 1-235929411-T-C
• gnomAD v3: 1-235766111-T-C
• gnomAD v4: 1-235766111-T-C
• COSMIC: COSM1257019
• MyVariant Identifiers: chr1:g.235929411T>C (hg19) ; chr1:g.235766111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235766111T>C , CM000663.2:g.235766111T>C	GRCh38
NC_000001.10:g.235929411T>C , CM000663.1:g.235929411T>C	GRCh37
NC_000001.9:g.233996034T>C	NCBI36
NG_007397.1:g.122530A>G , LRG_143:g.122530A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461526.2:c.764A>G	ENSP00000513165.1:p.Asn255Ser
ENST00000697178.1:c.*1513A>G	ENSP00000513163.1:n.*1513A>G
ENST00000697180.1:c.594A>G
ENST00000697241.1:c.521A>G	ENSP00000513206.1:p.Asn174Ser
ENST00000389793.7:c.6089A>G MANE Select	ENSP00000374443.2:p.Asn2030Ser
ENST00000389793.6:c.6089A>G	ENSP00000374443.2:p.Asn2030Ser
ENST00000389794.7:c.*1513A>G	ENSP00000374444.4:n.*1513A>G
ENST00000489585.5:n.6512+128A>G
NM_000081.3:c.6089A>G , LRG_143t1:c.6089A>G	NP_000072.2:p.Asn2030Ser
NM_001301365.1:c.6089A>G , LRG_143t2:c.6089A>G	NP_001288294.1:p.Asn2030Ser
XM_011544031.1:c.6089A>G	XP_011542333.1:p.Asn2030Ser
XM_011544032.1:c.6089A>G	XP_011542334.1:p.Asn2030Ser
XM_011544033.1:c.6089A>G	XP_011542335.1:p.Asn2030Ser
XM_011544034.1:c.5951A>G	XP_011542336.1:p.Asn1984Ser
XM_011544035.1:c.6089A>G	XP_011542337.1:p.Asn2030Ser
XM_011544036.1:c.3752A>G	XP_011542338.1:p.Asn1251Ser
XM_011544037.1:c.6089A>G	XP_011542339.1:p.Asn2030Ser
XM_011544038.1:c.6089A>G	XP_011542340.1:p.Asn2030Ser
XM_011544039.1:c.6089A>G	XP_011542341.1:p.Asn2030Ser
XM_011544040.1:c.5998A>G	XP_011542342.1:p.Ile2000Val
XM_011544033.2:c.6089A>G	XP_011542335.1:p.Asn2030Ser
XM_011544035.2:c.6089A>G	XP_011542337.1:p.Asn2030Ser
XM_011544036.2:c.3752A>G	XP_011542338.1:p.Asn1251Ser
XM_011544037.2:c.6089A>G	XP_011542339.1:p.Asn2030Ser
XM_011544039.2:c.6089A>G	XP_011542341.1:p.Asn2030Ser
XM_017000150.1:c.6089A>G	XP_016855639.1:p.Asn2030Ser
XM_017000151.1:c.5860A>G	XP_016855640.1:p.Ile1954Val
XR_001736946.2:n.6271A>G
XR_001736947.1:n.6271A>G
XR_001736948.1:n.6271A>G
XR_002959252.1:n.6180A>G
NM_000081.4:c.6089A>G MANE Select	NP_000072.2:p.Asn2030Ser