Canonical Allele Identifier: CA9681926

Gene: NLRP11

Linked Data

• ClinVar Variation Id: 2612809
• ClinVar RCV Id: RCV004356215
• dbSNP Id: rs765438265
• ExAC: 19:56320402 G / A
• gnomAD v2: 19-56320402-G-A
• gnomAD v3: 19-55809036-G-A
• gnomAD v4: 19-55809036-G-A
• COSMIC: COSM1722337
• MyVariant Identifiers: chr19:g.56320402G>A (hg19) ; chr19:g.55809036G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55809036G>A , CM000681.2:g.55809036G>A	GRCh38
NC_000019.9:g.56320402G>A , CM000681.1:g.56320402G>A	GRCh37
NC_000019.8:g.61012214G>A	NCBI36
NG_054722.1:g.32727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589093.6:c.1574C>T MANE Select	ENSP00000466285.1:p.Ser525Leu
ENST00000589093.5:c.1574C>T	ENSP00000466285.1:p.Ser525Leu
ENST00000589824.6:c.1574C>T	ENSP00000468082.1:p.Ser525Leu
ENST00000590409.5:c.1277C>T	ENSP00000466582.1:p.Ser426Leu
ENST00000592953.5:c.1277C>T	ENSP00000468196.1:p.Ser426Leu
ENST00000593244.5:c.1574C>T	ENSP00000467988.1:p.Ser525Leu
NM_001297743.1:c.1277C>T	NP_001284672.1:p.Ser426Leu
NM_145007.3:c.1574C>T	NP_659444.2:p.Ser525Leu
NM_001297743.3:c.1277C>T	NP_001284672.1:p.Ser426Leu
NM_001385451.2:c.1574C>T	NP_001372380.1:p.Ser525Leu
NM_001385453.2:c.1574C>T	NP_001372382.1:p.Ser525Leu
NM_145007.5:c.1574C>T	NP_659444.2:p.Ser525Leu
NR_169620.2:n.1765C>T
NR_169621.2:n.2098C>T
NR_169622.2:n.796-7297C>T
NM_001394894.2:c.1574C>T MANE Select	NP_001381823.1:p.Ser525Leu