Canonical Allele Identifier: CA1131983711
Gene: IL1RAPL1 HGNC NCBI

Linked Data

dbSNP Id: rs1932809360
gnomAD v3: X-29917644-C-T
gnomAD v4: X-29917644-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29917644C>T , CM000685.2:g.29917644C>T GRCh38
NC_000023.10:g.29935761C>T , CM000685.1:g.29935761C>T GRCh37
NC_000023.9:g.29845682C>T NCBI36
NG_008292.1:g.1335081C>T
NG_008292.2:g.1335081C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.911+48C>T MANE Select ENSP00000368278.1:n.911+48C>T
ENST00000302196.5:c.134+48C>T ENSP00000305200.5:n.134+48C>T
ENST00000378993.5:c.911+48C>T ENSP00000368278.1:n.911+48C>T
NM_014271.3:c.911+48C>T NP_055086.1:n.911+48C>T
XM_005274441.1:c.911+48C>T XP_005274498.1:n.911+48C>T
XM_011545445.1:c.911+48C>T XP_011543747.1:n.911+48C>T
XM_017029240.1:c.911+48C>T XP_016884729.1:n.911+48C>T
XM_017029241.1:c.533+48C>T XP_016884730.1:n.533+48C>T
NM_014271.4:c.911+48C>T MANE Select NP_055086.1:n.911+48C>T