Canonical Allele Identifier: CA8326756

Gene: NLRP1

Linked Data

• ClinVar Variation Id: 1165835
• ClinVar RCV Id: RCV001513313
• dbSNP Id: rs2301583
• ExAC: 17:5424886 G / A
• gnomAD v2: 17-5424886-G-A
• gnomAD v3: 17-5521566-G-A
• gnomAD v4: 17-5521566-G-A
• MyVariant Identifiers: chr17:g.5424886G>A (hg19) ; chr17:g.5521566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5521566G>A , CM000679.2:g.5521566G>A	GRCh38
NC_000017.10:g.5424886G>A , CM000679.1:g.5424886G>A	GRCh37
NC_000017.9:g.5365610G>A	NCBI36
NG_011651.1:g.67947C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262467.11:c.3753C>T	ENSP00000262467.5:p.Thr1251=
ENST00000269280.9:c.3741C>T	ENSP00000269280.4:p.Thr1247=
ENST00000354411.8:c.3651C>T	ENSP00000346390.3:p.Thr1217=
ENST00000544378.7:c.3753C>T	ENSP00000442029.2:p.Thr1251=
ENST00000571451.7:c.3741C>T	ENSP00000459661.3:p.Thr1247=
ENST00000572143.2:c.3732C>T	ENSP00000514476.1:p.Thr1244=
ENST00000576905.6:c.3741C>T	ENSP00000458303.2:p.Thr1247=
ENST00000617618.5:c.3741C>T	ENSP00000478516.1:p.Thr1247=
ENST00000699586.1:c.*514C>T	ENSP00000514458.1:n.*514C>T
ENST00000699612.1:c.225-3679C>T
ENST00000699613.1:c.3741C>T	ENSP00000514477.1:p.Thr1247=
ENST00000699614.1:c.3741C>T	ENSP00000514478.1:p.Thr1247=
ENST00000699615.1:c.*1459C>T	ENSP00000514479.1:n.*1459C>T
ENST00000699622.1:c.1072-3679C>T
ENST00000699623.1:c.3741C>T	ENSP00000514483.1:p.Thr1247=
ENST00000699624.1:n.2981C>T
ENST00000699625.1:c.3754C>T	ENSP00000514484.1:n.3754C>T
ENST00000699629.1:c.*1122C>T	ENSP00000514488.1:n.*1122C>T
ENST00000699630.1:c.*3026C>T	ENSP00000514489.1:n.*3026C>T
ENST00000699631.1:n.4498C>T
ENST00000699632.1:c.3846C>T	ENSP00000514490.1:n.3846C>T
ENST00000699633.1:c.3753C>T	ENSP00000514491.1:p.Thr1251=
ENST00000699634.1:c.3741C>T	ENSP00000514492.1:p.Thr1247=
ENST00000699635.1:n.903C>T
ENST00000699636.1:n.6456C>T
ENST00000699642.1:c.*2926C>T	ENSP00000514495.1:n.*2926C>T
ENST00000699643.1:c.*3389C>T	ENSP00000514496.1:n.*3389C>T
ENST00000699644.1:c.*5297C>T	ENSP00000514497.1:n.*5297C>T
ENST00000699645.1:c.*3026C>T	ENSP00000514498.1:n.*3026C>T
ENST00000699646.1:n.456C>T
ENST00000699665.1:c.*1310C>T	ENSP00000514508.1:n.*1310C>T
ENST00000699705.1:c.3753C>T	ENSP00000514530.1:p.Thr1251=
ENST00000699706.1:c.1213C>T
ENST00000699707.1:c.3651C>T	ENSP00000514532.1:p.Thr1217=
ENST00000699708.1:c.*1310C>T	ENSP00000514533.1:n.*1310C>T
ENST00000699709.1:c.3741C>T	ENSP00000514534.1:p.Thr1247=
ENST00000699710.1:c.3741C>T	ENSP00000514535.1:p.Thr1247=
ENST00000699711.1:c.3521-3679C>T	ENSP00000514536.1:n.3521-3679C>T
ENST00000699712.1:c.3430+8915C>T	ENSP00000514537.1:n.3430+8915C>T
ENST00000699713.1:c.*514C>T	ENSP00000514538.1:n.*514C>T
ENST00000699771.1:c.1040C>T
ENST00000699772.1:c.779C>T
ENST00000699773.1:c.445C>T
ENST00000699774.1:c.608C>T
ENST00000699804.1:c.608C>T
ENST00000699805.1:c.608C>T
ENST00000699806.1:c.388-6049C>T
ENST00000699807.1:c.608C>T
ENST00000262467.10:c.3753C>T	ENSP00000262467.5:p.Thr1251=
ENST00000572272.6:c.3741C>T MANE Select	ENSP00000460475.1:p.Thr1247=
ENST00000262467.9:c.3753C>T	ENSP00000262467.5:p.Thr1251=
ENST00000269280.8:c.3741C>T	ENSP00000269280.4:p.Thr1247=
ENST00000345221.7:c.3741C>T	ENSP00000324366.3:p.Thr1247=
ENST00000354411.7:c.3651C>T	ENSP00000346390.3:p.Thr1217=
ENST00000544378.6:c.3753C>T	ENSP00000442029.2:p.Thr1251=
ENST00000571451.6:c.*587C>T	ENSP00000459661.2:n.*587C>T
ENST00000572272.5:c.3741C>T	ENSP00000460475.1:p.Thr1247=
ENST00000577119.5:c.3651C>T	ENSP00000460216.1:p.Thr1217=
ENST00000613500.4:c.3753C>T	ENSP00000483359.1:p.Thr1251=
ENST00000617618.4:c.3741C>T	ENSP00000478516.1:p.Thr1247=
ENST00000619223.4:c.3651C>T	ENSP00000484692.1:p.Thr1217=
NM_001033053.2:c.3753C>T	NP_001028225.1:p.Thr1251=
NM_014922.4:c.3741C>T	NP_055737.1:p.Thr1247=
NM_033004.3:c.3741C>T	NP_127497.1:p.Thr1247=
NM_033006.3:c.3651C>T	NP_127499.1:p.Thr1217=
NM_033007.3:c.3651C>T	NP_127500.1:p.Thr1217=
NM_033004.4:c.3741C>T MANE Select	NP_127497.1:p.Thr1247=
NM_001033053.3:c.3753C>T	NP_001028225.1:p.Thr1251=
NM_014922.5:c.3741C>T	NP_055737.1:p.Thr1247=
NM_033006.4:c.3651C>T	NP_127499.1:p.Thr1217=
NM_033007.4:c.3651C>T	NP_127500.1:p.Thr1217=