Human (GRCh37.p13)
Description

NLR family, pyrin domain containing 1 [Source:HGNC Symbol;Acc:14374]

Gene Synonyms

CARD7, CIDED, CLR17.1, DEFCAP, DEFCAP-L/S, DKFZp586O1822, KIAA0926, NAC, NALP1, PP1044, SLEV1, VAMAS1

Location

Chromosome 17: 5,402,747-5,522,744 reverse strand.

GRCh37:CM000679.1

About this gene

This gene has 14 transcripts (splice variants), 6 paralogues and is associated with 5 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000345221.3NLRP1-20154801429aaENSP00000324366.3
 
Protein coding
CCDS42245I3L0S2 I3L2G5 Q9C000
NM_033007.3GENCODE basic
ENST00000262467.5NLRP1-00151311375aaENSP00000262467.5
 
Protein coding
CCDS32537E9PE50 I3L0S2 Q9H5Z7
NM_001033053.2GENCODE basic
ENST00000269280.4NLRP1-01050751429aaENSP00000269280.4
 
Protein coding
CCDS42245I3L0S2 I3L2G5 Q9C000
-GENCODE basic
ENST00000572272.1NLRP1-01144221473aaENSP00000460475.1
 
Protein coding
CCDS42246I3L0S2 I3L2G5 Q9C000
-GENCODE basic
ENST00000354411.3NLRP1-01243321443aaENSP00000346390.3
 
Protein coding
CCDS42244I3L0S2 Q9C000 NM_033006.3GENCODE basic
ENST00000577119.1NLRP1-00942001399aaENSP00000460216.1
 
Protein coding
CCDS58508I3L0S2 Q9C000 -GENCODE basic
ENST00000576905.1NLRP1-01455535aaENSP00000458303.1
 
Protein coding
I3L0S2 -CDS 3' incomplete
ENST00000571451.2NLRP1-00854441051aaENSP00000459661.2
 
Nonsense mediated decay
I3L0S2 I3L2G5 --
ENST00000544378.2NLRP1-00252811375aaENSP00000442029.2
 
Nonsense mediated decay
CCDS32537E9PE50 I3L0S2 Q9H5Z7
--
ENST00000571307.1NLRP1-0074050No protein-
 
Processed transcript
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ENST00000574406.1NLRP1-0031750No protein-
 
Processed transcript
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ENST00000568641.1NLRP1-0041627No protein-
 
Processed transcript
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ENST00000572143.1NLRP1-013578No protein-
 
Processed transcript
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ENST00000574512.1NLRP1-0054506No protein-
 
Retained intron
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