Canonical Allele Identifier: CA397389019

Gene: NLRP1

Linked Data

• MyVariant Identifiers: chr17:g.5424878A>C (hg19) ; chr17:g.5521558A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5521558A>C , CM000679.2:g.5521558A>C	GRCh38
NC_000017.10:g.5424878A>C , CM000679.1:g.5424878A>C	GRCh37
NC_000017.9:g.5365602A>C	NCBI36
NG_011651.1:g.67955T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262467.11:c.3761T>G	ENSP00000262467.5:p.Leu1254Arg
ENST00000269280.9:c.3749T>G	ENSP00000269280.4:p.Leu1250Arg
ENST00000354411.8:c.3659T>G	ENSP00000346390.3:p.Leu1220Arg
ENST00000544378.7:c.3761T>G	ENSP00000442029.2:p.Leu1254Arg
ENST00000571451.7:c.3749T>G	ENSP00000459661.3:p.Leu1250Arg
ENST00000572143.2:c.3740T>G	ENSP00000514476.1:p.Leu1247Arg
ENST00000576905.6:c.3749T>G	ENSP00000458303.2:p.Leu1250Arg
ENST00000617618.5:c.3749T>G	ENSP00000478516.1:p.Leu1250Arg
ENST00000699586.1:c.*522T>G	ENSP00000514458.1:n.*522T>G
ENST00000699612.1:c.225-3671T>G
ENST00000699613.1:c.3749T>G	ENSP00000514477.1:p.Leu1250Arg
ENST00000699614.1:c.3749T>G	ENSP00000514478.1:p.Leu1250Arg
ENST00000699615.1:c.*1467T>G	ENSP00000514479.1:n.*1467T>G
ENST00000699622.1:c.1072-3671T>G
ENST00000699623.1:c.3749T>G	ENSP00000514483.1:p.Leu1250Arg
ENST00000699624.1:n.2989T>G
ENST00000699625.1:c.3762T>G	ENSP00000514484.1:n.3762T>G
ENST00000699629.1:c.*1130T>G	ENSP00000514488.1:n.*1130T>G
ENST00000699630.1:c.*3034T>G	ENSP00000514489.1:n.*3034T>G
ENST00000699631.1:n.4506T>G
ENST00000699632.1:c.3854T>G	ENSP00000514490.1:n.3854T>G
ENST00000699633.1:c.3761T>G	ENSP00000514491.1:p.Leu1254Arg
ENST00000699634.1:c.3749T>G	ENSP00000514492.1:p.Leu1250Arg
ENST00000699635.1:n.911T>G
ENST00000699636.1:n.6464T>G
ENST00000699642.1:c.*2934T>G	ENSP00000514495.1:n.*2934T>G
ENST00000699643.1:c.*3397T>G	ENSP00000514496.1:n.*3397T>G
ENST00000699644.1:c.*5305T>G	ENSP00000514497.1:n.*5305T>G
ENST00000699645.1:c.*3034T>G	ENSP00000514498.1:n.*3034T>G
ENST00000699646.1:n.464T>G
ENST00000699665.1:c.*1318T>G	ENSP00000514508.1:n.*1318T>G
ENST00000699705.1:c.3761T>G	ENSP00000514530.1:p.Leu1254Arg
ENST00000699706.1:c.1221T>G
ENST00000699707.1:c.3659T>G	ENSP00000514532.1:p.Leu1220Arg
ENST00000699708.1:c.*1318T>G	ENSP00000514533.1:n.*1318T>G
ENST00000699709.1:c.3749T>G	ENSP00000514534.1:p.Leu1250Arg
ENST00000699710.1:c.3749T>G	ENSP00000514535.1:p.Leu1250Arg
ENST00000699711.1:c.3521-3671T>G	ENSP00000514536.1:n.3521-3671T>G
ENST00000699712.1:c.3430+8923T>G	ENSP00000514537.1:n.3430+8923T>G
ENST00000699713.1:c.*522T>G	ENSP00000514538.1:n.*522T>G
ENST00000699771.1:c.1048T>G
ENST00000699772.1:c.787T>G
ENST00000699773.1:c.453T>G
ENST00000699774.1:c.616T>G
ENST00000699804.1:c.616T>G
ENST00000699805.1:c.616T>G
ENST00000699806.1:c.388-6041T>G
ENST00000699807.1:c.616T>G
ENST00000262467.10:c.3761T>G	ENSP00000262467.5:p.Leu1254Arg
ENST00000572272.6:c.3749T>G MANE Select	ENSP00000460475.1:p.Leu1250Arg
ENST00000262467.9:c.3761T>G	ENSP00000262467.5:p.Leu1254Arg
ENST00000269280.8:c.3749T>G	ENSP00000269280.4:p.Leu1250Arg
ENST00000345221.7:c.3749T>G	ENSP00000324366.3:p.Leu1250Arg
ENST00000354411.7:c.3659T>G	ENSP00000346390.3:p.Leu1220Arg
ENST00000544378.6:c.3761T>G	ENSP00000442029.2:p.Leu1254Arg
ENST00000571451.6:c.*595T>G	ENSP00000459661.2:n.*595T>G
ENST00000572272.5:c.3749T>G	ENSP00000460475.1:p.Leu1250Arg
ENST00000577119.5:c.3659T>G	ENSP00000460216.1:p.Leu1220Arg
ENST00000613500.4:c.3761T>G	ENSP00000483359.1:p.Leu1254Arg
ENST00000617618.4:c.3749T>G	ENSP00000478516.1:p.Leu1250Arg
ENST00000619223.4:c.3659T>G	ENSP00000484692.1:p.Leu1220Arg
NM_001033053.2:c.3761T>G	NP_001028225.1:p.Leu1254Arg
NM_014922.4:c.3749T>G	NP_055737.1:p.Leu1250Arg
NM_033004.3:c.3749T>G	NP_127497.1:p.Leu1250Arg
NM_033006.3:c.3659T>G	NP_127499.1:p.Leu1220Arg
NM_033007.3:c.3659T>G	NP_127500.1:p.Leu1220Arg
NM_033004.4:c.3749T>G MANE Select	NP_127497.1:p.Leu1250Arg
NM_001033053.3:c.3761T>G	NP_001028225.1:p.Leu1254Arg
NM_014922.5:c.3749T>G	NP_055737.1:p.Leu1250Arg
NM_033006.4:c.3659T>G	NP_127499.1:p.Leu1220Arg
NM_033007.4:c.3659T>G	NP_127500.1:p.Leu1220Arg