Canonical Allele Identifier: CA2343150159
Community Standard Title: NM_001127255.2(NLRP7):c.2078G= (p.Arg693=)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54938095C= , CM000681.2:g.54938095C= GRCh38
NC_000019.8:g.60141275C= NCBI36
NG_008056.1:g.14411G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000592784.6:c.2078G= (NLRP7) MANE Select ENSP00000468706.1:p.Arg693=
NM_001127255.1:c.2078G= (NLRP7) NP_001120727.1:p.Arg693=
NM_139176.3:c.1994G= (NLRP7) NP_631915.2:p.Arg665=
NM_206828.3:c.2078G= (NLRP7) NP_996611.2:p.Arg693=
ENST00000328092.9:c.1994G= (NLRP7) ENSP00000329568.5:p.Arg665=
ENST00000340844.6:c.2078G= (NLRP7) ENSP00000339491.2:p.Arg693=
ENST00000586379.5:c.2078G= (NLRP7) ENSP00000468243.1:p.Arg693=
ENST00000588756.5:c.2078G= (NLRP7) ENSP00000467123.1:p.Arg693=
ENST00000590030.5:c.2078G= (NLRP7) ENSP00000465520.1:p.Arg693=
ENST00000592784.5:c.2078G= (NLRP7) ENSP00000468706.1:p.Arg693=
XM_006723075.2:c.2078G= (NLRP7) XP_006723138.1:p.Arg693=
XM_006723075.3:c.2078G= (NLRP7) XP_006723138.1:p.Arg693=
XM_006723076.2:c.2078G= (NLRP7) XP_006723139.1:p.Arg693=
XM_006723076.3:c.2078G= (NLRP7) XP_006723139.1:p.Arg693=
XM_011526596.1:c.2162G= (NLRP7) XP_011524898.1:p.Arg721=
XM_011526596.2:c.2162G= (NLRP7) XP_011524898.1:p.Arg721=
XM_011526597.1:c.2162G= (NLRP7) XP_011524899.1:p.Arg721=
XM_011526598.1:c.2162G= (NLRP7) XP_011524900.1:p.Arg721=
XM_011526599.1:c.2078G= (NLRP7) XP_011524901.1:p.Arg693=
XM_011526599.2:c.2078G= (NLRP7) XP_011524901.1:p.Arg693=
XM_011526600.1:c.2078G= (NLRP7) XP_011524902.1:p.Arg693=
XM_011526601.1:c.2162G= (NLRP7) XP_011524903.1:p.Arg721=
XM_011526601.2:c.2162G= (NLRP7) XP_011524903.1:p.Arg721=
XM_011527530.1:c.683-41C= (NCR1) XP_011525832.1:n.683-41C=
XM_011527530.3:c.683-41C= (NCR1) XP_011525832.1:n.683-41C=
XR_935761.1:n.2596G= (NLRP7)