Canonical Allele Identifier: CA407585911

Gene: NLRP11

Linked Data

• gnomAD v4: 19-55809017-A-C
• MyVariant Identifiers: chr19:g.56320383A>C (hg19) ; chr19:g.55809017A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55809017A>C , CM000681.2:g.55809017A>C	GRCh38
NC_000019.9:g.56320383A>C , CM000681.1:g.56320383A>C	GRCh37
NC_000019.8:g.61012195A>C	NCBI36
NG_054722.1:g.32746T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589093.6:c.1593T>G MANE Select	ENSP00000466285.1:p.His531Gln
ENST00000589093.5:c.1593T>G	ENSP00000466285.1:p.His531Gln
ENST00000589824.6:c.1593T>G	ENSP00000468082.1:p.His531Gln
ENST00000590409.5:c.1296T>G	ENSP00000466582.1:p.His432Gln
ENST00000592953.5:c.1296T>G	ENSP00000468196.1:p.His432Gln
ENST00000593244.5:c.1593T>G	ENSP00000467988.1:p.His531Gln
NM_001297743.1:c.1296T>G	NP_001284672.1:p.His432Gln
NM_145007.3:c.1593T>G	NP_659444.2:p.His531Gln
NM_001297743.3:c.1296T>G	NP_001284672.1:p.His432Gln
NM_001385451.2:c.1593T>G	NP_001372380.1:p.His531Gln
NM_001385453.2:c.1593T>G	NP_001372382.1:p.His531Gln
NM_145007.5:c.1593T>G	NP_659444.2:p.His531Gln
NR_169620.2:n.1784T>G
NR_169621.2:n.2117T>G
NR_169622.2:n.796-7278T>G
NM_001394894.2:c.1593T>G MANE Select	NP_001381823.1:p.His531Gln