Canonical Allele Identifier: CA287278738

Gene: NLRP1

Linked Data

• dbSNP Id: rs201007063
• gnomAD v2: 17-5424888-T-G
• gnomAD v3: 17-5521568-T-G
• gnomAD v4: 17-5521568-T-G
• MyVariant Identifiers: chr17:g.5424888T>G (hg19) ; chr17:g.5521568T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5521568T>G , CM000679.2:g.5521568T>G	GRCh38
NC_000017.10:g.5424888T>G , CM000679.1:g.5424888T>G	GRCh37
NC_000017.9:g.5365612T>G	NCBI36
NG_011651.1:g.67945A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262467.11:c.3751A>C	ENSP00000262467.5:p.Thr1251Pro
ENST00000269280.9:c.3739A>C	ENSP00000269280.4:p.Thr1247Pro
ENST00000354411.8:c.3649A>C	ENSP00000346390.3:p.Thr1217Pro
ENST00000544378.7:c.3751A>C	ENSP00000442029.2:p.Thr1251Pro
ENST00000571451.7:c.3739A>C	ENSP00000459661.3:p.Thr1247Pro
ENST00000572143.2:c.3730A>C	ENSP00000514476.1:p.Thr1244Pro
ENST00000576905.6:c.3739A>C	ENSP00000458303.2:p.Thr1247Pro
ENST00000617618.5:c.3739A>C	ENSP00000478516.1:p.Thr1247Pro
ENST00000699586.1:c.*512A>C	ENSP00000514458.1:n.*512A>C
ENST00000699612.1:c.225-3681A>C
ENST00000699613.1:c.3739A>C	ENSP00000514477.1:p.Thr1247Pro
ENST00000699614.1:c.3739A>C	ENSP00000514478.1:p.Thr1247Pro
ENST00000699615.1:c.*1457A>C	ENSP00000514479.1:n.*1457A>C
ENST00000699622.1:c.1072-3681A>C
ENST00000699623.1:c.3739A>C	ENSP00000514483.1:p.Thr1247Pro
ENST00000699624.1:n.2979A>C
ENST00000699625.1:c.3752A>C	ENSP00000514484.1:n.3752A>C
ENST00000699629.1:c.*1120A>C	ENSP00000514488.1:n.*1120A>C
ENST00000699630.1:c.*3024A>C	ENSP00000514489.1:n.*3024A>C
ENST00000699631.1:n.4496A>C
ENST00000699632.1:c.3844A>C	ENSP00000514490.1:n.3844A>C
ENST00000699633.1:c.3751A>C	ENSP00000514491.1:p.Thr1251Pro
ENST00000699634.1:c.3739A>C	ENSP00000514492.1:p.Thr1247Pro
ENST00000699635.1:n.901A>C
ENST00000699636.1:n.6454A>C
ENST00000699642.1:c.*2924A>C	ENSP00000514495.1:n.*2924A>C
ENST00000699643.1:c.*3387A>C	ENSP00000514496.1:n.*3387A>C
ENST00000699644.1:c.*5295A>C	ENSP00000514497.1:n.*5295A>C
ENST00000699645.1:c.*3024A>C	ENSP00000514498.1:n.*3024A>C
ENST00000699646.1:n.454A>C
ENST00000699665.1:c.*1308A>C	ENSP00000514508.1:n.*1308A>C
ENST00000699705.1:c.3751A>C	ENSP00000514530.1:p.Thr1251Pro
ENST00000699706.1:c.1211A>C
ENST00000699707.1:c.3649A>C	ENSP00000514532.1:p.Thr1217Pro
ENST00000699708.1:c.*1308A>C	ENSP00000514533.1:n.*1308A>C
ENST00000699709.1:c.3739A>C	ENSP00000514534.1:p.Thr1247Pro
ENST00000699710.1:c.3739A>C	ENSP00000514535.1:p.Thr1247Pro
ENST00000699711.1:c.3521-3681A>C	ENSP00000514536.1:n.3521-3681A>C
ENST00000699712.1:c.3430+8913A>C	ENSP00000514537.1:n.3430+8913A>C
ENST00000699713.1:c.*512A>C	ENSP00000514538.1:n.*512A>C
ENST00000699771.1:c.1038A>C
ENST00000699772.1:c.777A>C
ENST00000699773.1:c.443A>C
ENST00000699774.1:c.606A>C
ENST00000699804.1:c.606A>C
ENST00000699805.1:c.606A>C
ENST00000699806.1:c.388-6051A>C
ENST00000699807.1:c.606A>C
ENST00000262467.10:c.3751A>C	ENSP00000262467.5:p.Thr1251Pro
ENST00000572272.6:c.3739A>C MANE Select	ENSP00000460475.1:p.Thr1247Pro
ENST00000262467.9:c.3751A>C	ENSP00000262467.5:p.Thr1251Pro
ENST00000269280.8:c.3739A>C	ENSP00000269280.4:p.Thr1247Pro
ENST00000345221.7:c.3739A>C	ENSP00000324366.3:p.Thr1247Pro
ENST00000354411.7:c.3649A>C	ENSP00000346390.3:p.Thr1217Pro
ENST00000544378.6:c.3751A>C	ENSP00000442029.2:p.Thr1251Pro
ENST00000571451.6:c.*585A>C	ENSP00000459661.2:n.*585A>C
ENST00000572272.5:c.3739A>C	ENSP00000460475.1:p.Thr1247Pro
ENST00000577119.5:c.3649A>C	ENSP00000460216.1:p.Thr1217Pro
ENST00000613500.4:c.3751A>C	ENSP00000483359.1:p.Thr1251Pro
ENST00000617618.4:c.3739A>C	ENSP00000478516.1:p.Thr1247Pro
ENST00000619223.4:c.3649A>C	ENSP00000484692.1:p.Thr1217Pro
NM_001033053.2:c.3751A>C	NP_001028225.1:p.Thr1251Pro
NM_014922.4:c.3739A>C	NP_055737.1:p.Thr1247Pro
NM_033004.3:c.3739A>C	NP_127497.1:p.Thr1247Pro
NM_033006.3:c.3649A>C	NP_127499.1:p.Thr1217Pro
NM_033007.3:c.3649A>C	NP_127500.1:p.Thr1217Pro
NM_033004.4:c.3739A>C MANE Select	NP_127497.1:p.Thr1247Pro
NM_001033053.3:c.3751A>C	NP_001028225.1:p.Thr1251Pro
NM_014922.5:c.3739A>C	NP_055737.1:p.Thr1247Pro
NM_033006.4:c.3649A>C	NP_127499.1:p.Thr1217Pro
NM_033007.4:c.3649A>C	NP_127500.1:p.Thr1217Pro