Canonical Allele Identifier: CA2838868409
Gene: NLRP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5521693dup , CM000679.2:g.5521693dup GRCh38
NC_000017.10:g.5425013dup , CM000679.1:g.5425013dup GRCh37
NC_000017.9:g.5365737dup NCBI36
NG_011651.1:g.67820dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262467.11:c.3626dup ENSP00000262467.5:p.Val1210SerfsTer19
ENST00000269280.9:c.3614dup ENSP00000269280.4:p.Val1206SerfsTer19
ENST00000354411.8:c.3524dup ENSP00000346390.3:p.Val1176SerfsTer19
ENST00000544378.7:c.3626dup ENSP00000442029.2:p.Val1210SerfsTer19
ENST00000571451.7:c.3614dup ENSP00000459661.3:p.Val1206SerfsTer19
ENST00000572143.2:c.3605dup ENSP00000514476.1:p.Val1203SerfsTer19
ENST00000576905.6:c.3614dup ENSP00000458303.2:p.Val1206SerfsTer19
ENST00000617618.5:c.3614dup ENSP00000478516.1:p.Val1206SerfsTer19
ENST00000699586.1:c.*387dup ENSP00000514458.1:n.*387dup
ENST00000699612.1:c.225-3806dup
ENST00000699613.1:c.3614dup ENSP00000514477.1:p.Val1206SerfsTer19
ENST00000699614.1:c.3614dup ENSP00000514478.1:p.Val1206SerfsTer19
ENST00000699615.1:c.*1332dup ENSP00000514479.1:n.*1332dup
ENST00000699622.1:c.1072-3806dup
ENST00000699623.1:c.3614dup ENSP00000514483.1:p.Val1206SerfsTer19
ENST00000699624.1:n.2854dup
ENST00000699625.1:c.3627dup ENSP00000514484.1:n.3627dup
ENST00000699629.1:c.*995dup ENSP00000514488.1:n.*995dup
ENST00000699630.1:c.*2899dup ENSP00000514489.1:n.*2899dup
ENST00000699631.1:n.4371dup
ENST00000699632.1:c.3719dup ENSP00000514490.1:n.3719dup
ENST00000699633.1:c.3626dup ENSP00000514491.1:p.Val1210SerfsTer19
ENST00000699634.1:c.3614dup ENSP00000514492.1:p.Val1206SerfsTer19
ENST00000699635.1:n.776dup
ENST00000699636.1:n.6329dup
ENST00000699642.1:c.*2799dup ENSP00000514495.1:n.*2799dup
ENST00000699643.1:c.*3262dup ENSP00000514496.1:n.*3262dup
ENST00000699644.1:c.*5170dup ENSP00000514497.1:n.*5170dup
ENST00000699645.1:c.*2899dup ENSP00000514498.1:n.*2899dup
ENST00000699646.1:n.329dup
ENST00000699665.1:c.*1183dup ENSP00000514508.1:n.*1183dup
ENST00000699705.1:c.3626dup ENSP00000514530.1:p.Val1210SerfsTer19
ENST00000699706.1:c.1086dup
ENST00000699707.1:c.3524dup ENSP00000514532.1:p.Val1176SerfsTer19
ENST00000699708.1:c.*1183dup ENSP00000514533.1:n.*1183dup
ENST00000699709.1:c.3614dup ENSP00000514534.1:p.Val1206SerfsTer19
ENST00000699710.1:c.3614dup ENSP00000514535.1:p.Val1206SerfsTer19
ENST00000699711.1:c.3521-3806dup ENSP00000514536.1:n.3521-3806dup
ENST00000699712.1:c.3430+8788dup ENSP00000514537.1:n.3430+8788dup
ENST00000699713.1:c.*387dup ENSP00000514538.1:n.*387dup
ENST00000699771.1:c.913dup
ENST00000699772.1:c.652dup
ENST00000699773.1:c.318dup
ENST00000699774.1:c.481dup
ENST00000699804.1:c.481dup
ENST00000699805.1:c.481dup
ENST00000699806.1:c.388-6176dup
ENST00000699807.1:c.481dup
ENST00000262467.10:c.3626dup ENSP00000262467.5:p.Val1210SerfsTer19
ENST00000572272.6:c.3614dup MANE Select ENSP00000460475.1:p.Val1206SerfsTer19
ENST00000262467.9:c.3626dup ENSP00000262467.5:p.Val1210SerfsTer19
ENST00000269280.8:c.3614dup ENSP00000269280.4:p.Val1206SerfsTer19
ENST00000345221.7:c.3614dup ENSP00000324366.3:p.Val1206SerfsTer19
ENST00000354411.7:c.3524dup ENSP00000346390.3:p.Val1176SerfsTer19
ENST00000544378.6:c.3626dup ENSP00000442029.2:p.Val1210SerfsTer19
ENST00000571451.6:c.*460dup ENSP00000459661.2:n.*460dup
ENST00000572272.5:c.3614dup ENSP00000460475.1:p.Val1206SerfsTer19
ENST00000577119.5:c.3524dup ENSP00000460216.1:p.Val1176SerfsTer19
ENST00000613500.4:c.3626dup ENSP00000483359.1:p.Val1210SerfsTer19
ENST00000617618.4:c.3614dup ENSP00000478516.1:p.Val1206SerfsTer19
ENST00000619223.4:c.3524dup ENSP00000484692.1:p.Val1176SerfsTer19
NM_001033053.2:c.3626dup NP_001028225.1:p.Val1210SerfsTer19
NM_014922.4:c.3614dup NP_055737.1:p.Val1206SerfsTer19
NM_033004.3:c.3614dup NP_127497.1:p.Val1206SerfsTer19
NM_033006.3:c.3524dup NP_127499.1:p.Val1176SerfsTer19
NM_033007.3:c.3524dup NP_127500.1:p.Val1176SerfsTer19
NM_033004.4:c.3614dup MANE Select NP_127497.1:p.Val1206SerfsTer19
NM_001033053.3:c.3626dup NP_001028225.1:p.Val1210SerfsTer19
NM_014922.5:c.3614dup NP_055737.1:p.Val1206SerfsTer19
NM_033006.4:c.3524dup NP_127499.1:p.Val1176SerfsTer19
NM_033007.4:c.3524dup NP_127500.1:p.Val1176SerfsTer19