Canonical Allele Identifier: CA10375490
Gene: IL1RAPL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2377938
ClinVar RCV Id: RCV002692787
dbSNP Id: rs777978404
ExAC: X:29935625 G / A
gnomAD v2: X-29935625-G-A
gnomAD v3: X-29917508-G-A
gnomAD v4: X-29917508-G-A
COSMIC: COSM5005273 COSM5005274
MyVariant Identifiers: chrX:g.29935625G>A (hg19) chrX:g.29917508G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29917508G>A , CM000685.2:g.29917508G>A GRCh38
NC_000023.10:g.29935625G>A , CM000685.1:g.29935625G>A GRCh37
NC_000023.9:g.29845546G>A NCBI36
NG_008292.1:g.1334945G>A
NG_008292.2:g.1334945G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.823G>A MANE Select ENSP00000368278.1:p.Gly275Arg
ENST00000302196.5:c.46G>A ENSP00000305200.5:p.Gly16Arg
ENST00000378993.5:c.823G>A ENSP00000368278.1:p.Gly275Arg
NM_014271.3:c.823G>A NP_055086.1:p.Gly275Arg
XM_005274441.1:c.823G>A XP_005274498.1:p.Gly275Arg
XM_011545445.1:c.823G>A XP_011543747.1:p.Gly275Arg
XM_017029240.1:c.823G>A XP_016884729.1:p.Gly275Arg
XM_017029241.1:c.445G>A XP_016884730.1:p.Gly149Arg
NM_014271.4:c.823G>A MANE Select NP_055086.1:p.Gly275Arg
Search 100 bp 5'
Search 100 bp 3'