Canonical Allele Identifier: CA9681918

Gene: NLRP11

Linked Data

• dbSNP Id: rs774063940
• ExAC: 19:56320380 C / A
• gnomAD v2: 19-56320380-C-A
• gnomAD v4: 19-55809014-C-A
• MyVariant Identifiers: chr19:g.56320380C>A (hg19) ; chr19:g.55809014C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55809014C>A , CM000681.2:g.55809014C>A	GRCh38
NC_000019.9:g.56320380C>A , CM000681.1:g.56320380C>A	GRCh37
NC_000019.8:g.61012192C>A	NCBI36
NG_054722.1:g.32749G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589093.6:c.1596G>T MANE Select	ENSP00000466285.1:p.Leu532Phe
ENST00000589093.5:c.1596G>T	ENSP00000466285.1:p.Leu532Phe
ENST00000589824.6:c.1596G>T	ENSP00000468082.1:p.Leu532Phe
ENST00000590409.5:c.1299G>T	ENSP00000466582.1:p.Leu433Phe
ENST00000592953.5:c.1299G>T	ENSP00000468196.1:p.Leu433Phe
ENST00000593244.5:c.1596G>T	ENSP00000467988.1:p.Leu532Phe
NM_001297743.1:c.1299G>T	NP_001284672.1:p.Leu433Phe
NM_145007.3:c.1596G>T	NP_659444.2:p.Leu532Phe
NM_001297743.3:c.1299G>T	NP_001284672.1:p.Leu433Phe
NM_001385451.2:c.1596G>T	NP_001372380.1:p.Leu532Phe
NM_001385453.2:c.1596G>T	NP_001372382.1:p.Leu532Phe
NM_145007.5:c.1596G>T	NP_659444.2:p.Leu532Phe
NR_169620.2:n.1787G>T
NR_169621.2:n.2120G>T
NR_169622.2:n.796-7275G>T
NM_001394894.2:c.1596G>T MANE Select	NP_001381823.1:p.Leu532Phe