Canonical Allele Identifier: CA1495435

Gene: NLRP3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.247448447A>C , CM000663.2:g.247448447A>C	GRCh38
NC_000001.10:g.247611749A>C , CM000663.1:g.247611749A>C	GRCh37
NC_000001.9:g.245678372A>C	NCBI36
NG_007509.2:g.37275A>C , LRG_197:g.37275A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001243133.2:c.3048A>C MANE Select	NP_001230062.1:p.Leu1016Phe
ENST00000336119.8:c.3048A>C MANE Select	ENSP00000337383.4:p.Leu1016Phe
NM_001079821.2:c.3054A>C	NP_001073289.1:p.Leu1018Phe
NM_001079821.3:c.3048A>C	NP_001073289.2:p.Leu1016Phe
NM_001127461.2:c.2883A>C	NP_001120933.1:p.Leu961Phe
NM_001127461.3:c.2877A>C	NP_001120933.2:p.Leu959Phe
NM_001127462.2:c.2883A>C	NP_001120934.1:p.Leu961Phe
NM_001127462.3:c.2877A>C	NP_001120934.2:p.Leu959Phe
NM_001243133.1:c.3048A>C	NP_001230062.1:p.Leu1016Phe
NM_004895.4:c.3054A>C , LRG_197t1:c.3054A>C	NP_004886.3:p.Leu1018Phe
NM_004895.5:c.3054A>C	NP_004886.3:p.Leu1018Phe
NM_183395.2:c.2712A>C	NP_899632.1:p.Leu904Phe
NM_183395.3:c.2706A>C	NP_899632.2:p.Leu902Phe
ENST00000336119.7:c.3054A>C	ENSP00000337383.3:p.Leu1018Phe
ENST00000348069.6:c.2712A>C	ENSP00000294752.3:p.Leu904Phe
ENST00000348069.7:c.2706A>C	ENSP00000294752.4:p.Leu902Phe
ENST00000366496.6:c.2883A>C	ENSP00000355452.2:p.Leu961Phe
ENST00000366496.7:c.2877A>C	ENSP00000355452.3:p.Leu959Phe
ENST00000366497.6:c.2883A>C	ENSP00000355453.2:p.Leu961Phe
ENST00000391827.2:c.2883A>C	ENSP00000375703.2:p.Leu961Phe
ENST00000391827.3:c.2877A>C	ENSP00000375703.3:p.Leu959Phe
ENST00000391828.7:c.3054A>C	ENSP00000375704.3:p.Leu1018Phe
ENST00000391828.8:c.3048A>C	ENSP00000375704.4:p.Leu1016Phe
ENST00000532083.1:n.450A>C
ENST00000642259.1:c.3084A>C	ENSP00000494332.1:n.3084A>C
ENST00000643234.2:c.2988A>C	ENSP00000493674.2:p.Leu996Phe
ENST00000697350.1:c.3048A>C	ENSP00000513275.1:p.Leu1016Phe
XM_005273036.2:c.3054A>C	XP_005273093.1:p.Leu1018Phe
XM_005273037.2:c.3054A>C	XP_005273094.1:p.Leu1018Phe
XM_011544048.1:c.3054A>C	XP_011542350.1:p.Leu1018Phe
XM_011544048.2:c.3054A>C	XP_011542350.1:p.Leu1018Phe
XM_011544049.1:c.3054A>C	XP_011542351.1:p.Leu1018Phe
XM_011544050.1:c.3054A>C	XP_011542352.1:p.Leu1018Phe
XM_011544051.1:c.3054A>C	XP_011542353.1:p.Leu1018Phe
XM_011544052.1:c.2883A>C	XP_011542354.1:p.Leu961Phe
XM_011544053.1:c.2712A>C	XP_011542355.1:p.Leu904Phe
XM_011544054.1:c.2712A>C	XP_011542356.1:p.Leu904Phe
XM_011544055.1:c.2541A>C	XP_011542357.1:p.Leu847Phe
XM_017000181.1:c.3054A>C	XP_016855670.1:p.Leu1018Phe
XM_017000182.1:c.3054A>C	XP_016855671.1:p.Leu1018Phe
XM_017000183.1:c.2883A>C	XP_016855672.1:p.Leu961Phe
XM_017000184.1:c.2712A>C	XP_016855673.1:p.Leu904Phe
XM_024452862.1:c.2712A>C	XP_024308630.1:p.Leu904Phe
XM_024452874.1:c.2541A>C	XP_024308642.1:p.Leu847Phe