Canonical Allele Identifier: CA115081

Linked Data

ClinVar Variation Id: 1588
ClinVar RCV Id: RCV000001655
dbSNP Id: rs104895503
MyVariant Identifiers: chr19:g.54930571T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54930571T>C , CM000681.2:g.54930571T>C GRCh38
NC_000019.8:g.60133751T>C NCBI36
NG_008056.1:g.21935A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000592784.6:c.2738A>G (NLRP7) MANE Select ENSP00000468706.1:p.Asn913Ser
ENST00000328092.9:c.2654A>G (NLRP7) ENSP00000329568.5:p.Asn885Ser
ENST00000340844.6:c.2738A>G (NLRP7) ENSP00000339491.2:p.Asn913Ser
ENST00000586379.5:c.2738A>G (NLRP7) ENSP00000468243.1:p.Asn913Ser
ENST00000588756.5:c.2738A>G (NLRP7) ENSP00000467123.1:p.Asn913Ser
ENST00000590030.5:c.2738A>G (NLRP7) ENSP00000465520.1:p.Asn913Ser
ENST00000592784.5:c.2738A>G (NLRP7) ENSP00000468706.1:p.Asn913Ser
NM_001127255.1:c.2738A>G (NLRP7) NP_001120727.1:p.Asn913Ser
NM_139176.3:c.2654A>G (NLRP7) NP_631915.2:p.Asn885Ser
NM_206828.3:c.2738A>G (NLRP7) NP_996611.2:p.Asn913Ser
XM_006723075.2:c.2738A>G (NLRP7) XP_006723138.1:p.Asn913Ser
XM_006723076.2:c.2738A>G (NLRP7) XP_006723139.1:p.Asn913Ser
XM_011526596.1:c.2822A>G (NLRP7) XP_011524898.1:p.Asn941Ser
XM_011526597.1:c.2822A>G (NLRP7) XP_011524899.1:p.Asn941Ser
XM_011526598.1:c.2822A>G (NLRP7) XP_011524900.1:p.Asn941Ser
XM_011526599.1:c.2738A>G (NLRP7) XP_011524901.1:p.Asn913Ser
XM_011526600.1:c.2738A>G (NLRP7) XP_011524902.1:p.Asn913Ser
XM_011526601.1:c.2822A>G (NLRP7) XP_011524903.1:p.Asn941Ser
XM_011527530.1:c.683-7565T>C (NCR1) XP_011525832.1:n.683-7565T>C
XR_935761.1:n.3256A>G (NLRP7)
XM_006723075.3:c.2738A>G (NLRP7) XP_006723138.1:p.Asn913Ser
XM_006723076.3:c.2738A>G (NLRP7) XP_006723139.1:p.Asn913Ser
XM_011526596.2:c.2822A>G (NLRP7) XP_011524898.1:p.Asn941Ser
XM_011526599.2:c.2738A>G (NLRP7) XP_011524901.1:p.Asn913Ser
XM_011526601.2:c.2822A>G (NLRP7) XP_011524903.1:p.Asn941Ser
XM_011527530.3:c.683-7565T>C (NCR1) XP_011525832.1:n.683-7565T>C