Canonical Allele Identifier: CA407586179
Gene: NLRP11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55809060A>G , CM000681.2:g.55809060A>G GRCh38
NC_000019.9:g.56320426A>G , CM000681.1:g.56320426A>G GRCh37
NC_000019.8:g.61012238A>G NCBI36
NG_054722.1:g.32703T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000589093.6:c.1550T>C MANE Select ENSP00000466285.1:p.Met517Thr
ENST00000589093.5:c.1550T>C ENSP00000466285.1:p.Met517Thr
ENST00000589824.6:c.1550T>C ENSP00000468082.1:p.Met517Thr
ENST00000590409.5:c.1253T>C ENSP00000466582.1:p.Met418Thr
ENST00000592953.5:c.1253T>C ENSP00000468196.1:p.Met418Thr
ENST00000593244.5:c.1550T>C ENSP00000467988.1:p.Met517Thr
NM_001297743.1:c.1253T>C NP_001284672.1:p.Met418Thr
NM_145007.3:c.1550T>C NP_659444.2:p.Met517Thr
NM_001297743.3:c.1253T>C NP_001284672.1:p.Met418Thr
NM_001385451.2:c.1550T>C NP_001372380.1:p.Met517Thr
NM_001385453.2:c.1550T>C NP_001372382.1:p.Met517Thr
NM_145007.5:c.1550T>C NP_659444.2:p.Met517Thr
NR_169620.2:n.1741T>C
NR_169621.2:n.2074T>C
NR_169622.2:n.796-7321T>C
NM_001394894.2:c.1550T>C MANE Select NP_001381823.1:p.Met517Thr