Canonical Allele Identifier: CA412632673
Gene: IL1RAPL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29399251T>C , CM000685.2:g.29399251T>C GRCh38
NC_000023.10:g.29417368T>C , CM000685.1:g.29417368T>C GRCh37
NC_000023.9:g.29327289T>C NCBI36
NG_008292.1:g.816688T>C
NG_008292.2:g.816688T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.646T>C MANE Select ENSP00000368278.1:p.Cys216Arg
ENST00000378993.5:c.646T>C ENSP00000368278.1:p.Cys216Arg
NM_014271.3:c.646T>C NP_055086.1:p.Cys216Arg
XM_005274441.1:c.646T>C XP_005274498.1:p.Cys216Arg
XM_011545445.1:c.646T>C XP_011543747.1:p.Cys216Arg
XM_017029240.1:c.646T>C XP_016884729.1:p.Cys216Arg
XM_017029241.1:c.268T>C XP_016884730.1:p.Cys90Arg
NM_014271.4:c.646T>C MANE Select NP_055086.1:p.Cys216Arg