Canonical Allele Identifier: CA407586220

Gene: NLRP11

Linked Data

• dbSNP Id: rs781657526
• gnomAD v2: 19-56320436-G-T
• gnomAD v4: 19-55809070-G-T
• MyVariant Identifiers: chr19:g.56320436G>T (hg19) ; chr19:g.55809070G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55809070G>T , CM000681.2:g.55809070G>T	GRCh38
NC_000019.9:g.56320436G>T , CM000681.1:g.56320436G>T	GRCh37
NC_000019.8:g.61012248G>T	NCBI36
NG_054722.1:g.32693C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589093.6:c.1540C>A MANE Select	ENSP00000466285.1:p.Gln514Lys
ENST00000589093.5:c.1540C>A	ENSP00000466285.1:p.Gln514Lys
ENST00000589824.6:c.1540C>A	ENSP00000468082.1:p.Gln514Lys
ENST00000590409.5:c.1243C>A	ENSP00000466582.1:p.Gln415Lys
ENST00000592953.5:c.1243C>A	ENSP00000468196.1:p.Gln415Lys
ENST00000593244.5:c.1540C>A	ENSP00000467988.1:p.Gln514Lys
NM_001297743.1:c.1243C>A	NP_001284672.1:p.Gln415Lys
NM_145007.3:c.1540C>A	NP_659444.2:p.Gln514Lys
NM_001297743.3:c.1243C>A	NP_001284672.1:p.Gln415Lys
NM_001385451.2:c.1540C>A	NP_001372380.1:p.Gln514Lys
NM_001385453.2:c.1540C>A	NP_001372382.1:p.Gln514Lys
NM_145007.5:c.1540C>A	NP_659444.2:p.Gln514Lys
NR_169620.2:n.1731C>A
NR_169621.2:n.2064C>A
NR_169622.2:n.796-7331C>A
NM_001394894.2:c.1540C>A MANE Select	NP_001381823.1:p.Gln514Lys