Canonical Allele Identifier: CA115093
Gene: NLRP7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1593
ClinVar RCV Id: RCV000001660
dbSNP Id: rs104895549
MyVariant Identifiers: chr19:g.54938222G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54938222G>A , CM000681.2:g.54938222G>A GRCh38
NC_000019.8:g.60141402G>A NCBI36
NG_008056.1:g.14284C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000592784.6:c.1951C>T MANE Select ENSP00000468706.1:p.Pro651Ser
ENST00000328092.9:c.1932-65C>T ENSP00000329568.5:n.1932-65C>T
ENST00000340844.6:c.1951C>T ENSP00000339491.2:p.Pro651Ser
ENST00000586379.5:c.1951C>T ENSP00000468243.1:p.Pro651Ser
ENST00000588756.5:c.1951C>T ENSP00000467123.1:p.Pro651Ser
ENST00000590030.5:c.1951C>T ENSP00000465520.1:p.Pro651Ser
ENST00000592784.5:c.1951C>T ENSP00000468706.1:p.Pro651Ser
NM_001127255.1:c.1951C>T NP_001120727.1:p.Pro651Ser
NM_139176.3:c.1932-65C>T NP_631915.2:n.1932-65C>T
NM_206828.3:c.1951C>T NP_996611.2:p.Pro651Ser
XM_006723075.2:c.1951C>T XP_006723138.1:p.Pro651Ser
XM_006723076.2:c.1951C>T XP_006723139.1:p.Pro651Ser
XM_011526596.1:c.2035C>T XP_011524898.1:p.Pro679Ser
XM_011526597.1:c.2035C>T XP_011524899.1:p.Pro679Ser
XM_011526598.1:c.2035C>T XP_011524900.1:p.Pro679Ser
XM_011526599.1:c.1951C>T XP_011524901.1:p.Pro651Ser
XM_011526600.1:c.1951C>T XP_011524902.1:p.Pro651Ser
XM_011526601.1:c.2035C>T XP_011524903.1:p.Pro679Ser
XR_935761.1:n.2469C>T
XM_006723075.3:c.1951C>T XP_006723138.1:p.Pro651Ser
XM_006723076.3:c.1951C>T XP_006723139.1:p.Pro651Ser
XM_011526596.2:c.2035C>T XP_011524898.1:p.Pro679Ser
XM_011526599.2:c.1951C>T XP_011524901.1:p.Pro651Ser
XM_011526601.2:c.2035C>T XP_011524903.1:p.Pro679Ser