Canonical Allele Identifier: CA14369542

Gene: NLRP1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5509041C>T , CM000679.2:g.5509041C>T	GRCh38
NC_000017.10:g.5412361C>T , CM000679.1:g.5412361C>T	GRCh37
NC_000017.9:g.5353085C>T	NCBI36
NG_011651.1:g.80472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262467.11:c.4070-7169G>A	ENSP00000262467.5:n.4070-7169G>A
ENST00000544378.7:c.4070-7169G>A	ENSP00000442029.2:n.4070-7169G>A
ENST00000572143.2:c.4049-7169G>A	ENSP00000514476.1:n.4049-7169G>A
ENST00000699612.1:c.367-7169G>A
ENST00000699613.1:c.4102+6432G>A	ENSP00000514477.1:n.4102+6432G>A
ENST00000699614.1:c.3926-7169G>A	ENSP00000514478.1:n.3926-7169G>A
ENST00000699622.1:c.1214-7169G>A
ENST00000699623.1:c.4058-7169G>A	ENSP00000514483.1:n.4058-7169G>A
ENST00000699624.1:n.3298-7169G>A
ENST00000699625.1:c.4071-7169G>A	ENSP00000514484.1:n.4071-7169G>A
ENST00000699629.1:c.*2166+5350G>A	ENSP00000514488.1:n.*2166+5350G>A
ENST00000699630.1:c.*3343-7169G>A	ENSP00000514489.1:n.*3343-7169G>A
ENST00000699631.1:n.4858-7169G>A
ENST00000699705.1:c.3938-7169G>A	ENSP00000514530.1:n.3938-7169G>A
ENST00000699706.1:c.1530-7169G>A
ENST00000699707.1:c.3968-7169G>A	ENSP00000514532.1:n.3968-7169G>A
ENST00000699708.1:c.*1495-7169G>A	ENSP00000514533.1:n.*1495-7169G>A
ENST00000699709.1:c.*363+5350G>A	ENSP00000514534.1:n.*363+5350G>A
ENST00000699710.1:c.4058-7169G>A	ENSP00000514535.1:n.4058-7169G>A
ENST00000699711.1:c.*33-7169G>A	ENSP00000514536.1:n.*33-7169G>A
ENST00000699712.1:c.3431-7169G>A	ENSP00000514537.1:n.3431-7169G>A
ENST00000699713.1:c.*831-7169G>A	ENSP00000514538.1:n.*831-7169G>A
ENST00000699771.1:c.1357-7169G>A
ENST00000699772.1:c.964-7169G>A
ENST00000699773.1:c.806+6432G>A
ENST00000699800.1:c.142+8705G>A	ENSP00000514603.1:n.142+8705G>A
ENST00000699801.1:c.187+6432G>A	ENSP00000514604.1:n.187+6432G>A
ENST00000699802.1:c.143-3064G>A	ENSP00000514605.1:n.143-3064G>A
ENST00000262467.10:c.4070-7169G>A	ENSP00000262467.5:n.4070-7169G>A
ENST00000262467.9:c.4070-7169G>A	ENSP00000262467.5:n.4070-7169G>A
ENST00000544378.6:c.4070-7169G>A	ENSP00000442029.2:n.4070-7169G>A
ENST00000574512.1:n.821-3064G>A
ENST00000613500.4:c.4070-7169G>A	ENSP00000483359.1:n.4070-7169G>A
NM_001033053.2:c.4070-7169G>A	NP_001028225.1:n.4070-7169G>A
NM_001033053.3:c.4070-7169G>A	NP_001028225.1:n.4070-7169G>A