Canonical Allele Identifier: CA10375447
Gene: IL1RAPL1 HGNC NCBI

Linked Data

dbSNP Id: rs747203292
ExAC: X:29417397 G / A
gnomAD v2: X-29417397-G-A
gnomAD v3: X-29399280-G-A
gnomAD v4: X-29399280-G-A
COSMIC: COSM5432511 COSM5432512
MyVariant Identifiers: chrX:g.29417397G>A (hg19) chrX:g.29399280G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29399280G>A , CM000685.2:g.29399280G>A GRCh38
NC_000023.10:g.29417397G>A , CM000685.1:g.29417397G>A GRCh37
NC_000023.9:g.29327318G>A NCBI36
NG_008292.1:g.816717G>A
NG_008292.2:g.816717G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.675G>A MANE Select ENSP00000368278.1:p.Val225=
ENST00000378993.5:c.675G>A ENSP00000368278.1:p.Val225=
NM_014271.3:c.675G>A NP_055086.1:p.Val225=
XM_005274441.1:c.675G>A XP_005274498.1:p.Val225=
XM_011545445.1:c.675G>A XP_011543747.1:p.Val225=
XM_017029240.1:c.675G>A XP_016884729.1:p.Val225=
XM_017029241.1:c.297G>A XP_016884730.1:p.Val99=
NM_014271.4:c.675G>A MANE Select NP_055086.1:p.Val225=
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