Canonical Allele Identifier: CA397376958

Gene: NLRP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5539444C>A , CM000679.2:g.5539444C>A	GRCh38
NC_000017.10:g.5442764C>A , CM000679.1:g.5442764C>A	GRCh37
NC_000017.9:g.5383488C>A	NCBI36
NG_011651.1:g.50069G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033004.4:c.2841G>T MANE Select	NP_127497.1:p.Arg947Ser
ENST00000572272.6:c.2841G>T MANE Select	ENSP00000460475.1:p.Arg947Ser
NM_001033053.2:c.2841G>T	NP_001028225.1:p.Arg947Ser
NM_001033053.3:c.2841G>T	NP_001028225.1:p.Arg947Ser
NM_014922.4:c.2841G>T	NP_055737.1:p.Arg947Ser
NM_014922.5:c.2841G>T	NP_055737.1:p.Arg947Ser
NM_033004.3:c.2841G>T	NP_127497.1:p.Arg947Ser
NM_033006.3:c.2841G>T	NP_127499.1:p.Arg947Ser
NM_033006.4:c.2841G>T	NP_127499.1:p.Arg947Ser
NM_033007.3:c.2841G>T	NP_127500.1:p.Arg947Ser
NM_033007.4:c.2841G>T	NP_127500.1:p.Arg947Ser
ENST00000262467.10:c.2841G>T	ENSP00000262467.5:p.Arg947Ser
ENST00000262467.11:c.2841G>T	ENSP00000262467.5:p.Arg947Ser
ENST00000262467.9:c.2841G>T	ENSP00000262467.5:p.Arg947Ser
ENST00000269280.8:c.2841G>T	ENSP00000269280.4:p.Arg947Ser
ENST00000269280.9:c.2841G>T	ENSP00000269280.4:p.Arg947Ser
ENST00000345221.7:c.2841G>T	ENSP00000324366.3:p.Arg947Ser
ENST00000354411.7:c.2841G>T	ENSP00000346390.3:p.Arg947Ser
ENST00000354411.8:c.2841G>T	ENSP00000346390.3:p.Arg947Ser
ENST00000544378.6:c.2841G>T	ENSP00000442029.2:p.Arg947Ser
ENST00000544378.7:c.2841G>T	ENSP00000442029.2:p.Arg947Ser
ENST00000571307.1:n.3207G>T
ENST00000571307.2:c.2841G>T	ENSP00000514459.1:p.Arg947Ser
ENST00000571451.6:c.2841G>T	ENSP00000459661.2:p.Arg947Ser
ENST00000571451.7:c.2841G>T	ENSP00000459661.3:p.Arg947Ser
ENST00000572143.2:c.2841G>T	ENSP00000514476.1:p.Arg947Ser
ENST00000572272.5:c.2841G>T	ENSP00000460475.1:p.Arg947Ser
ENST00000576905.6:c.2841G>T	ENSP00000458303.2:p.Arg947Ser
ENST00000577119.5:c.2841G>T	ENSP00000460216.1:p.Arg947Ser
ENST00000613500.4:c.2841G>T	ENSP00000483359.1:p.Arg947Ser
ENST00000617618.4:c.2841G>T	ENSP00000478516.1:p.Arg947Ser
ENST00000617618.5:c.2841G>T	ENSP00000478516.1:p.Arg947Ser
ENST00000619223.4:c.2841G>T	ENSP00000484692.1:p.Arg947Ser
ENST00000699586.1:c.2841G>T	ENSP00000514458.1:p.Arg947Ser
ENST00000699613.1:c.2841G>T	ENSP00000514477.1:p.Arg947Ser
ENST00000699614.1:c.2841G>T	ENSP00000514478.1:p.Arg947Ser
ENST00000699615.1:c.*547G>T	ENSP00000514479.1:n.*547G>T
ENST00000699616.1:n.117G>T
ENST00000699618.1:n.55G>T
ENST00000699622.1:c.484G>T
ENST00000699623.1:c.2841G>T	ENSP00000514483.1:p.Arg947Ser
ENST00000699624.1:n.2081G>T
ENST00000699625.1:c.2854G>T	ENSP00000514484.1:n.2854G>T
ENST00000699629.1:c.*222G>T	ENSP00000514488.1:n.*222G>T
ENST00000699630.1:c.*2126G>T	ENSP00000514489.1:n.*2126G>T
ENST00000699631.1:n.3598G>T
ENST00000699632.1:c.2946G>T	ENSP00000514490.1:n.2946G>T
ENST00000699633.1:c.2841G>T	ENSP00000514491.1:p.Arg947Ser
ENST00000699634.1:c.2841G>T	ENSP00000514492.1:p.Arg947Ser
ENST00000699636.1:n.5646G>T
ENST00000699637.1:n.1288G>T
ENST00000699642.1:c.*2026G>T	ENSP00000514495.1:n.*2026G>T
ENST00000699643.1:c.*2489G>T	ENSP00000514496.1:n.*2489G>T
ENST00000699644.1:c.*4397G>T	ENSP00000514497.1:n.*4397G>T
ENST00000699645.1:c.*2126G>T	ENSP00000514498.1:n.*2126G>T
ENST00000699665.1:c.*410G>T	ENSP00000514508.1:n.*410G>T
ENST00000699705.1:c.2841G>T	ENSP00000514530.1:p.Arg947Ser
ENST00000699706.1:c.313G>T
ENST00000699707.1:c.2841G>T	ENSP00000514532.1:p.Arg947Ser
ENST00000699708.1:c.*410G>T	ENSP00000514533.1:n.*410G>T
ENST00000699709.1:c.2841G>T	ENSP00000514534.1:p.Arg947Ser
ENST00000699710.1:c.2841G>T	ENSP00000514535.1:p.Arg947Ser
ENST00000699711.1:c.2841G>T	ENSP00000514536.1:p.Arg947Ser
ENST00000699712.1:c.2841G>T	ENSP00000514537.1:p.Arg947Ser
ENST00000699713.1:c.2841G>T	ENSP00000514538.1:p.Arg947Ser
ENST00000699771.1:c.313G>T
ENST00000699772.1:c.142G>T
ENST00000699775.1:c.2874G>T	ENSP00000514581.1:p.Arg958Ser
ENST00000699776.1:c.*382G>T	ENSP00000514582.1:n.*382G>T
ENST00000699809.1:c.2841G>T	ENSP00000514612.1:p.Arg947Ser
ENST00000699810.1:c.2841G>T	ENSP00000514613.1:p.Arg947Ser