Canonical Allele Identifier: CA9681937

Gene: NLRP11

Linked Data

• ClinVar Variation Id: 2550968
• ClinVar RCV Id: RCV004322030
• dbSNP Id: rs747752125
• ExAC: 19:56320465 C / T
• gnomAD v2: 19-56320465-C-T
• gnomAD v4: 19-55809099-C-T
• MyVariant Identifiers: chr19:g.56320465C>T (hg19) ; chr19:g.55809099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55809099C>T , CM000681.2:g.55809099C>T	GRCh38
NC_000019.9:g.56320465C>T , CM000681.1:g.56320465C>T	GRCh37
NC_000019.8:g.61012277C>T	NCBI36
NG_054722.1:g.32664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589093.6:c.1511G>A MANE Select	ENSP00000466285.1:p.Arg504Lys
ENST00000589093.5:c.1511G>A	ENSP00000466285.1:p.Arg504Lys
ENST00000589824.6:c.1511G>A	ENSP00000468082.1:p.Arg504Lys
ENST00000590409.5:c.1214G>A	ENSP00000466582.1:p.Arg405Lys
ENST00000592953.5:c.1214G>A	ENSP00000468196.1:p.Arg405Lys
ENST00000593244.5:c.1511G>A	ENSP00000467988.1:p.Arg504Lys
NM_001297743.1:c.1214G>A	NP_001284672.1:p.Arg405Lys
NM_145007.3:c.1511G>A	NP_659444.2:p.Arg504Lys
NM_001297743.3:c.1214G>A	NP_001284672.1:p.Arg405Lys
NM_001385451.2:c.1511G>A	NP_001372380.1:p.Arg504Lys
NM_001385453.2:c.1511G>A	NP_001372382.1:p.Arg504Lys
NM_145007.5:c.1511G>A	NP_659444.2:p.Arg504Lys
NR_169620.2:n.1702G>A
NR_169621.2:n.2035G>A
NR_169622.2:n.796-7360G>A
NM_001394894.2:c.1511G>A MANE Select	NP_001381823.1:p.Arg504Lys