Canonical Allele Identifier: CA412632805
Gene: IL1RAPL1 HGNC NCBI

Linked Data

gnomAD v4: X-29399310-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29399310T>C , CM000685.2:g.29399310T>C GRCh38
NC_000023.10:g.29417427T>C , CM000685.1:g.29417427T>C GRCh37
NC_000023.9:g.29327348T>C NCBI36
NG_008292.1:g.816747T>C
NG_008292.2:g.816747T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.703+2T>C MANE Select ENSP00000368278.1:n.703+2T>C
ENST00000378993.5:c.703+2T>C ENSP00000368278.1:n.703+2T>C
NM_014271.3:c.703+2T>C NP_055086.1:n.703+2T>C
XM_005274441.1:c.703+2T>C XP_005274498.1:n.703+2T>C
XM_011545445.1:c.703+2T>C XP_011543747.1:n.703+2T>C
XM_017029240.1:c.703+2T>C XP_016884729.1:n.703+2T>C
XM_017029241.1:c.325+2T>C XP_016884730.1:n.325+2T>C
NM_014271.4:c.703+2T>C MANE Select NP_055086.1:n.703+2T>C