Canonical Allele Identifier: CA515840650
Gene: IL1RAPL1 HGNC NCBI

Linked Data

gnomAD v4: X-29917555-T-C
MyVariant Identifiers: chrX:g.29935672T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29917555T>C , CM000685.2:g.29917555T>C GRCh38
NC_000023.10:g.29935672T>C , CM000685.1:g.29935672T>C GRCh37
NC_000023.9:g.29845593T>C NCBI36
NG_008292.1:g.1334992T>C
NG_008292.2:g.1334992T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.870T>C MANE Select ENSP00000368278.1:p.Ile290=
ENST00000302196.5:c.93T>C ENSP00000305200.5:p.Ile31=
ENST00000378993.5:c.870T>C ENSP00000368278.1:p.Ile290=
NM_014271.3:c.870T>C NP_055086.1:p.Ile290=
XM_005274441.1:c.870T>C XP_005274498.1:p.Ile290=
XM_011545445.1:c.870T>C XP_011543747.1:p.Ile290=
XM_017029240.1:c.870T>C XP_016884729.1:p.Ile290=
XM_017029241.1:c.492T>C XP_016884730.1:p.Ile164=
NM_014271.4:c.870T>C MANE Select NP_055086.1:p.Ile290=