Canonical Allele Identifier: CA397389051

Gene: NLRP1

Linked Data

• MyVariant Identifiers: chr17:g.5424892T>G (hg19) ; chr17:g.5521572T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5521572T>G , CM000679.2:g.5521572T>G	GRCh38
NC_000017.10:g.5424892T>G , CM000679.1:g.5424892T>G	GRCh37
NC_000017.9:g.5365616T>G	NCBI36
NG_011651.1:g.67941A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262467.11:c.3747A>C	ENSP00000262467.5:p.Glu1249Asp
ENST00000269280.9:c.3735A>C	ENSP00000269280.4:p.Glu1245Asp
ENST00000354411.8:c.3645A>C	ENSP00000346390.3:p.Glu1215Asp
ENST00000544378.7:c.3747A>C	ENSP00000442029.2:p.Glu1249Asp
ENST00000571451.7:c.3735A>C	ENSP00000459661.3:p.Glu1245Asp
ENST00000572143.2:c.3726A>C	ENSP00000514476.1:p.Glu1242Asp
ENST00000576905.6:c.3735A>C	ENSP00000458303.2:p.Glu1245Asp
ENST00000617618.5:c.3735A>C	ENSP00000478516.1:p.Glu1245Asp
ENST00000699586.1:c.*508A>C	ENSP00000514458.1:n.*508A>C
ENST00000699612.1:c.225-3685A>C
ENST00000699613.1:c.3735A>C	ENSP00000514477.1:p.Glu1245Asp
ENST00000699614.1:c.3735A>C	ENSP00000514478.1:p.Glu1245Asp
ENST00000699615.1:c.*1453A>C	ENSP00000514479.1:n.*1453A>C
ENST00000699622.1:c.1072-3685A>C
ENST00000699623.1:c.3735A>C	ENSP00000514483.1:p.Glu1245Asp
ENST00000699624.1:n.2975A>C
ENST00000699625.1:c.3748A>C	ENSP00000514484.1:n.3748A>C
ENST00000699629.1:c.*1116A>C	ENSP00000514488.1:n.*1116A>C
ENST00000699630.1:c.*3020A>C	ENSP00000514489.1:n.*3020A>C
ENST00000699631.1:n.4492A>C
ENST00000699632.1:c.3840A>C	ENSP00000514490.1:n.3840A>C
ENST00000699633.1:c.3747A>C	ENSP00000514491.1:p.Glu1249Asp
ENST00000699634.1:c.3735A>C	ENSP00000514492.1:p.Glu1245Asp
ENST00000699635.1:n.897A>C
ENST00000699636.1:n.6450A>C
ENST00000699642.1:c.*2920A>C	ENSP00000514495.1:n.*2920A>C
ENST00000699643.1:c.*3383A>C	ENSP00000514496.1:n.*3383A>C
ENST00000699644.1:c.*5291A>C	ENSP00000514497.1:n.*5291A>C
ENST00000699645.1:c.*3020A>C	ENSP00000514498.1:n.*3020A>C
ENST00000699646.1:n.450A>C
ENST00000699665.1:c.*1304A>C	ENSP00000514508.1:n.*1304A>C
ENST00000699705.1:c.3747A>C	ENSP00000514530.1:p.Glu1249Asp
ENST00000699706.1:c.1207A>C
ENST00000699707.1:c.3645A>C	ENSP00000514532.1:p.Glu1215Asp
ENST00000699708.1:c.*1304A>C	ENSP00000514533.1:n.*1304A>C
ENST00000699709.1:c.3735A>C	ENSP00000514534.1:p.Glu1245Asp
ENST00000699710.1:c.3735A>C	ENSP00000514535.1:p.Glu1245Asp
ENST00000699711.1:c.3521-3685A>C	ENSP00000514536.1:n.3521-3685A>C
ENST00000699712.1:c.3430+8909A>C	ENSP00000514537.1:n.3430+8909A>C
ENST00000699713.1:c.*508A>C	ENSP00000514538.1:n.*508A>C
ENST00000699771.1:c.1034A>C
ENST00000699772.1:c.773A>C
ENST00000699773.1:c.439A>C
ENST00000699774.1:c.602A>C
ENST00000699804.1:c.602A>C
ENST00000699805.1:c.602A>C
ENST00000699806.1:c.388-6055A>C
ENST00000699807.1:c.602A>C
ENST00000262467.10:c.3747A>C	ENSP00000262467.5:p.Glu1249Asp
ENST00000572272.6:c.3735A>C MANE Select	ENSP00000460475.1:p.Glu1245Asp
ENST00000262467.9:c.3747A>C	ENSP00000262467.5:p.Glu1249Asp
ENST00000269280.8:c.3735A>C	ENSP00000269280.4:p.Glu1245Asp
ENST00000345221.7:c.3735A>C	ENSP00000324366.3:p.Glu1245Asp
ENST00000354411.7:c.3645A>C	ENSP00000346390.3:p.Glu1215Asp
ENST00000544378.6:c.3747A>C	ENSP00000442029.2:p.Glu1249Asp
ENST00000571451.6:c.*581A>C	ENSP00000459661.2:n.*581A>C
ENST00000572272.5:c.3735A>C	ENSP00000460475.1:p.Glu1245Asp
ENST00000577119.5:c.3645A>C	ENSP00000460216.1:p.Glu1215Asp
ENST00000613500.4:c.3747A>C	ENSP00000483359.1:p.Glu1249Asp
ENST00000617618.4:c.3735A>C	ENSP00000478516.1:p.Glu1245Asp
ENST00000619223.4:c.3645A>C	ENSP00000484692.1:p.Glu1215Asp
NM_001033053.2:c.3747A>C	NP_001028225.1:p.Glu1249Asp
NM_014922.4:c.3735A>C	NP_055737.1:p.Glu1245Asp
NM_033004.3:c.3735A>C	NP_127497.1:p.Glu1245Asp
NM_033006.3:c.3645A>C	NP_127499.1:p.Glu1215Asp
NM_033007.3:c.3645A>C	NP_127500.1:p.Glu1215Asp
NM_033004.4:c.3735A>C MANE Select	NP_127497.1:p.Glu1245Asp
NM_001033053.3:c.3747A>C	NP_001028225.1:p.Glu1249Asp
NM_014922.5:c.3735A>C	NP_055737.1:p.Glu1245Asp
NM_033006.4:c.3645A>C	NP_127499.1:p.Glu1215Asp
NM_033007.4:c.3645A>C	NP_127500.1:p.Glu1215Asp