Canonical Allele Identifier: CA407586556

Gene: NLRP11

Linked Data

• gnomAD v4: 19-55809150-T-C
• MyVariant Identifiers: chr19:g.56320516T>C (hg19) ; chr19:g.55809150T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55809150T>C , CM000681.2:g.55809150T>C	GRCh38
NC_000019.9:g.56320516T>C , CM000681.1:g.56320516T>C	GRCh37
NC_000019.8:g.61012328T>C	NCBI36
NG_054722.1:g.32613A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589093.6:c.1460A>G MANE Select	ENSP00000466285.1:p.Asp487Gly
ENST00000589093.5:c.1460A>G	ENSP00000466285.1:p.Asp487Gly
ENST00000589824.6:c.1460A>G	ENSP00000468082.1:p.Asp487Gly
ENST00000590409.5:c.1163A>G	ENSP00000466582.1:p.Asp388Gly
ENST00000592953.5:c.1163A>G	ENSP00000468196.1:p.Asp388Gly
ENST00000593244.5:c.1460A>G	ENSP00000467988.1:p.Asp487Gly
NM_001297743.1:c.1163A>G	NP_001284672.1:p.Asp388Gly
NM_145007.3:c.1460A>G	NP_659444.2:p.Asp487Gly
NM_001297743.3:c.1163A>G	NP_001284672.1:p.Asp388Gly
NM_001385451.2:c.1460A>G	NP_001372380.1:p.Asp487Gly
NM_001385453.2:c.1460A>G	NP_001372382.1:p.Asp487Gly
NM_145007.5:c.1460A>G	NP_659444.2:p.Asp487Gly
NR_169620.2:n.1651A>G
NR_169621.2:n.1984A>G
NR_169622.2:n.796-7411A>G
NM_001394894.2:c.1460A>G MANE Select	NP_001381823.1:p.Asp487Gly