Canonical Allele Identifier: CA9681916

Gene: NLRP11

Linked Data

• dbSNP Id: rs115243845
• ExAC: 19:56320376 G / A
• gnomAD v2: 19-56320376-G-A
• gnomAD v3: 19-55809010-G-A
• gnomAD v4: 19-55809010-G-A
• COSMIC: COSM98150
• MyVariant Identifiers: chr19:g.56320376G>A (hg19) ; chr19:g.55809010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55809010G>A , CM000681.2:g.55809010G>A	GRCh38
NC_000019.9:g.56320376G>A , CM000681.1:g.56320376G>A	GRCh37
NC_000019.8:g.61012188G>A	NCBI36
NG_054722.1:g.32753C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589093.6:c.1600C>T MANE Select	ENSP00000466285.1:p.Arg534Cys
ENST00000589093.5:c.1600C>T	ENSP00000466285.1:p.Arg534Cys
ENST00000589824.6:c.1600C>T	ENSP00000468082.1:p.Arg534Cys
ENST00000590409.5:c.1303C>T	ENSP00000466582.1:p.Arg435Cys
ENST00000592953.5:c.1303C>T	ENSP00000468196.1:p.Arg435Cys
ENST00000593244.5:c.1600C>T	ENSP00000467988.1:p.Arg534Cys
NM_001297743.1:c.1303C>T	NP_001284672.1:p.Arg435Cys
NM_145007.3:c.1600C>T	NP_659444.2:p.Arg534Cys
NM_001297743.3:c.1303C>T	NP_001284672.1:p.Arg435Cys
NM_001385451.2:c.1600C>T	NP_001372380.1:p.Arg534Cys
NM_001385453.2:c.1600C>T	NP_001372382.1:p.Arg534Cys
NM_145007.5:c.1600C>T	NP_659444.2:p.Arg534Cys
NR_169620.2:n.1791C>T
NR_169621.2:n.2124C>T
NR_169622.2:n.796-7271C>T
NM_001394894.2:c.1600C>T MANE Select	NP_001381823.1:p.Arg534Cys