Canonical Allele Identifier: CA8326654

Gene: NLRP1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5515479G>A , CM000679.2:g.5515479G>A	GRCh38
NC_000017.10:g.5418799G>A , CM000679.1:g.5418799G>A	GRCh37
NC_000017.9:g.5359523G>A	NCBI36
NG_011651.1:g.74034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262467.11:c.4069+2267C>T	ENSP00000262467.5:n.4069+2267C>T
ENST00000269280.9:c.3964C>T	ENSP00000269280.4:p.Arg1322Cys
ENST00000354411.8:c.4006C>T	ENSP00000346390.3:p.Arg1336Cys
ENST00000544378.7:c.4069+2267C>T	ENSP00000442029.2:n.4069+2267C>T
ENST00000571451.7:c.3964C>T	ENSP00000459661.3:p.Arg1322Cys
ENST00000572143.2:c.4048+2267C>T	ENSP00000514476.1:n.4048+2267C>T
ENST00000576905.6:c.3964C>T	ENSP00000458303.2:p.Arg1322Cys
ENST00000617618.5:c.4096C>T	ENSP00000478516.1:p.Arg1366Cys
ENST00000699586.1:c.*869C>T	ENSP00000514458.1:n.*869C>T
ENST00000699612.1:c.366+2267C>T
ENST00000699613.1:c.4096C>T	ENSP00000514477.1:p.Arg1366Cys
ENST00000699614.1:c.3925+2267C>T	ENSP00000514478.1:n.3925+2267C>T
ENST00000699615.1:c.*1814C>T	ENSP00000514479.1:n.*1814C>T
ENST00000699622.1:c.1213+2267C>T
ENST00000699623.1:c.4057+2267C>T	ENSP00000514483.1:n.4057+2267C>T
ENST00000699624.1:n.3297+2267C>T
ENST00000699625.1:c.4070+2267C>T	ENSP00000514484.1:n.4070+2267C>T
ENST00000699629.1:c.*1477C>T	ENSP00000514488.1:n.*1477C>T
ENST00000699630.1:c.*3342+2267C>T	ENSP00000514489.1:n.*3342+2267C>T
ENST00000699631.1:n.4857+2267C>T
ENST00000699632.1:c.4201C>T	ENSP00000514490.1:n.4201C>T
ENST00000699633.1:c.4108C>T	ENSP00000514491.1:p.Arg1370Cys
ENST00000699634.1:c.4096C>T	ENSP00000514492.1:p.Arg1366Cys
ENST00000699635.1:n.1258C>T
ENST00000699636.1:n.6811C>T
ENST00000699642.1:c.*3281C>T	ENSP00000514495.1:n.*3281C>T
ENST00000699643.1:c.*3744C>T	ENSP00000514496.1:n.*3744C>T
ENST00000699644.1:c.*5652C>T	ENSP00000514497.1:n.*5652C>T
ENST00000699645.1:c.*3381C>T	ENSP00000514498.1:n.*3381C>T
ENST00000699665.1:c.*1665C>T	ENSP00000514508.1:n.*1665C>T
ENST00000699705.1:c.3937+2267C>T	ENSP00000514530.1:n.3937+2267C>T
ENST00000699706.1:c.1529+2267C>T
ENST00000699707.1:c.3967+2267C>T	ENSP00000514532.1:n.3967+2267C>T
ENST00000699708.1:c.*1494+2267C>T	ENSP00000514533.1:n.*1494+2267C>T
ENST00000699709.1:c.4096C>T	ENSP00000514534.1:p.Arg1366Cys
ENST00000699710.1:c.4057+2267C>T	ENSP00000514535.1:n.4057+2267C>T
ENST00000699711.1:c.*32+2267C>T	ENSP00000514536.1:n.*32+2267C>T
ENST00000699712.1:c.3431-13607C>T	ENSP00000514537.1:n.3431-13607C>T
ENST00000699713.1:c.*830+2267C>T	ENSP00000514538.1:n.*830+2267C>T
ENST00000699771.1:c.1356+2267C>T
ENST00000699772.1:c.963+2267C>T
ENST00000699773.1:c.800C>T
ENST00000699774.1:c.963C>T
ENST00000699800.1:c.142+2267C>T	ENSP00000514603.1:n.142+2267C>T
ENST00000699801.1:c.181C>T	ENSP00000514604.1:p.Arg61Cys
ENST00000699802.1:c.142+2267C>T	ENSP00000514605.1:n.142+2267C>T
ENST00000699803.1:c.181C>T	ENSP00000514606.1:p.Arg61Cys
ENST00000699804.1:c.863C>T
ENST00000699805.1:c.874C>T
ENST00000699806.1:c.426C>T
ENST00000262467.10:c.4069+2267C>T	ENSP00000262467.5:n.4069+2267C>T
ENST00000572272.6:c.4096C>T MANE Select	ENSP00000460475.1:p.Arg1366Cys
ENST00000262467.9:c.4069+2267C>T	ENSP00000262467.5:n.4069+2267C>T
ENST00000269280.8:c.3964C>T	ENSP00000269280.4:p.Arg1322Cys
ENST00000345221.7:c.3964C>T	ENSP00000324366.3:p.Arg1322Cys
ENST00000354411.7:c.4006C>T	ENSP00000346390.3:p.Arg1336Cys
ENST00000544378.6:c.4069+2267C>T	ENSP00000442029.2:n.4069+2267C>T
ENST00000571451.6:c.*810C>T	ENSP00000459661.2:n.*810C>T
ENST00000572272.5:c.4096C>T	ENSP00000460475.1:p.Arg1366Cys
ENST00000574512.1:n.820+2267C>T
ENST00000577119.5:c.3874C>T	ENSP00000460216.1:p.Arg1292Cys
ENST00000613500.4:c.4069+2267C>T	ENSP00000483359.1:n.4069+2267C>T
ENST00000617618.4:c.4096C>T	ENSP00000478516.1:p.Arg1366Cys
ENST00000619223.4:c.4006C>T	ENSP00000484692.1:p.Arg1336Cys
NM_001033053.2:c.4069+2267C>T	NP_001028225.1:n.4069+2267C>T
NM_014922.4:c.3964C>T	NP_055737.1:p.Arg1322Cys
NM_033004.3:c.4096C>T	NP_127497.1:p.Arg1366Cys
NM_033006.3:c.4006C>T	NP_127499.1:p.Arg1336Cys
NM_033007.3:c.3874C>T	NP_127500.1:p.Arg1292Cys
NM_033004.4:c.4096C>T MANE Select	NP_127497.1:p.Arg1366Cys
NM_001033053.3:c.4069+2267C>T	NP_001028225.1:n.4069+2267C>T
NM_014922.5:c.3964C>T	NP_055737.1:p.Arg1322Cys
NM_033006.4:c.4006C>T	NP_127499.1:p.Arg1336Cys
NM_033007.4:c.3874C>T	NP_127500.1:p.Arg1292Cys