Canonical Allele Identifier: CA407586757

Gene: NLRP11

Linked Data

• dbSNP Id: rs568863144
• gnomAD v4: 19-55809199-T-C
• MyVariant Identifiers: chr19:g.56320565T>C (hg19) ; chr19:g.55809199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55809199T>C , CM000681.2:g.55809199T>C	GRCh38
NC_000019.9:g.56320565T>C , CM000681.1:g.56320565T>C	GRCh37
NC_000019.8:g.61012377T>C	NCBI36
NG_054722.1:g.32564A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589093.6:c.1411A>G MANE Select	ENSP00000466285.1:p.Ile471Val
ENST00000589093.5:c.1411A>G	ENSP00000466285.1:p.Ile471Val
ENST00000589824.6:c.1411A>G	ENSP00000468082.1:p.Ile471Val
ENST00000590409.5:c.1114A>G	ENSP00000466582.1:p.Ile372Val
ENST00000592953.5:c.1114A>G	ENSP00000468196.1:p.Ile372Val
ENST00000593244.5:c.1411A>G	ENSP00000467988.1:p.Ile471Val
NM_001297743.1:c.1114A>G	NP_001284672.1:p.Ile372Val
NM_145007.3:c.1411A>G	NP_659444.2:p.Ile471Val
NM_001297743.3:c.1114A>G	NP_001284672.1:p.Ile372Val
NM_001385451.2:c.1411A>G	NP_001372380.1:p.Ile471Val
NM_001385453.2:c.1411A>G	NP_001372382.1:p.Ile471Val
NM_145007.5:c.1411A>G	NP_659444.2:p.Ile471Val
NR_169620.2:n.1602A>G
NR_169621.2:n.1935A>G
NR_169622.2:n.796-7460A>G
NM_001394894.2:c.1411A>G MANE Select	NP_001381823.1:p.Ile471Val