Canonical Allele Identifier: CA412632666
Gene: IL1RAPL1 HGNC NCBI

Linked Data

gnomAD v4: X-29399247-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29399247T>A , CM000685.2:g.29399247T>A GRCh38
NC_000023.10:g.29417364T>A , CM000685.1:g.29417364T>A GRCh37
NC_000023.9:g.29327285T>A NCBI36
NG_008292.1:g.816684T>A
NG_008292.2:g.816684T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.642T>A MANE Select ENSP00000368278.1:p.Tyr214Ter
ENST00000378993.5:c.642T>A ENSP00000368278.1:p.Tyr214Ter
NM_014271.3:c.642T>A NP_055086.1:p.Tyr214Ter
XM_005274441.1:c.642T>A XP_005274498.1:p.Tyr214Ter
XM_011545445.1:c.642T>A XP_011543747.1:p.Tyr214Ter
XM_017029240.1:c.642T>A XP_016884729.1:p.Tyr214Ter
XM_017029241.1:c.264T>A XP_016884730.1:p.Tyr88Ter
NM_014271.4:c.642T>A MANE Select NP_055086.1:p.Tyr214Ter