Canonical Allele Identifier: CA407860793

Linked Data

dbSNP Id: rs142092846
MyVariant Identifiers: chr19:g.54938186G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54938186G>A , CM000681.2:g.54938186G>A GRCh38
NC_000019.8:g.60141366G>A NCBI36
NG_008056.1:g.14320C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000592784.6:c.1987C>T (NLRP7) MANE Select ENSP00000468706.1:p.Leu663Phe
ENST00000328092.9:c.1932-29C>T (NLRP7) ENSP00000329568.5:n.1932-29C>T
ENST00000340844.6:c.1987C>T (NLRP7) ENSP00000339491.2:p.Leu663Phe
ENST00000586379.5:c.1987C>T (NLRP7) ENSP00000468243.1:p.Leu663Phe
ENST00000588756.5:c.1987C>T (NLRP7) ENSP00000467123.1:p.Leu663Phe
ENST00000590030.5:c.1987C>T (NLRP7) ENSP00000465520.1:p.Leu663Phe
ENST00000592784.5:c.1987C>T (NLRP7) ENSP00000468706.1:p.Leu663Phe
NM_001127255.1:c.1987C>T (NLRP7) NP_001120727.1:p.Leu663Phe
NM_139176.3:c.1932-29C>T (NLRP7) NP_631915.2:n.1932-29C>T
NM_206828.3:c.1987C>T (NLRP7) NP_996611.2:p.Leu663Phe
XM_006723075.2:c.1987C>T (NLRP7) XP_006723138.1:p.Leu663Phe
XM_006723076.2:c.1987C>T (NLRP7) XP_006723139.1:p.Leu663Phe
XM_011526596.1:c.2071C>T (NLRP7) XP_011524898.1:p.Leu691Phe
XM_011526597.1:c.2071C>T (NLRP7) XP_011524899.1:p.Leu691Phe
XM_011526598.1:c.2071C>T (NLRP7) XP_011524900.1:p.Leu691Phe
XM_011526599.1:c.1987C>T (NLRP7) XP_011524901.1:p.Leu663Phe
XM_011526600.1:c.1987C>T (NLRP7) XP_011524902.1:p.Leu663Phe
XM_011526601.1:c.2071C>T (NLRP7) XP_011524903.1:p.Leu691Phe
XM_011527530.1:c.*43G>A (NCR1) XP_011525832.1:n.*43G>A
XR_935761.1:n.2505C>T (NLRP7)
XM_006723075.3:c.1987C>T (NLRP7) XP_006723138.1:p.Leu663Phe
XM_006723076.3:c.1987C>T (NLRP7) XP_006723139.1:p.Leu663Phe
XM_011526596.2:c.2071C>T (NLRP7) XP_011524898.1:p.Leu691Phe
XM_011526599.2:c.1987C>T (NLRP7) XP_011524901.1:p.Leu663Phe
XM_011526601.2:c.2071C>T (NLRP7) XP_011524903.1:p.Leu691Phe
XM_011527530.3:c.*43G>A (NCR1) XP_011525832.1:n.*43G>A