Canonical Allele Identifier: CA328286131
Gene: IL1RAPL1 HGNC NCBI

Linked Data

dbSNP Id: rs747371577
gnomAD v3: X-29917678-T-C
gnomAD v4: X-29917678-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29917678T>C , CM000685.2:g.29917678T>C GRCh38
NC_000023.10:g.29935795T>C , CM000685.1:g.29935795T>C GRCh37
NC_000023.9:g.29845716T>C NCBI36
NG_008292.1:g.1335115T>C
NG_008292.2:g.1335115T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.911+82T>C MANE Select ENSP00000368278.1:n.911+82T>C
ENST00000302196.5:c.134+82T>C ENSP00000305200.5:n.134+82T>C
ENST00000378993.5:c.911+82T>C ENSP00000368278.1:n.911+82T>C
NM_014271.3:c.911+82T>C NP_055086.1:n.911+82T>C
XM_005274441.1:c.911+82T>C XP_005274498.1:n.911+82T>C
XM_011545445.1:c.911+82T>C XP_011543747.1:n.911+82T>C
XM_017029240.1:c.911+82T>C XP_016884729.1:n.911+82T>C
XM_017029241.1:c.533+82T>C XP_016884730.1:n.533+82T>C
NM_014271.4:c.911+82T>C MANE Select NP_055086.1:n.911+82T>C