Canonical Allele Identifier: CA10375501

Gene: IL1RAPL1

Linked Data

• dbSNP Id: rs753380346
• ExAC: X:29935759 C / G
• gnomAD v2: X-29935759-C-G
• gnomAD v3: X-29917642-C-G
• gnomAD v4: X-29917642-C-G
• MyVariant Identifiers: chrX:g.29935759C>G (hg19) ; chrX:g.29917642C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917642C>G , CM000685.2:g.29917642C>G	GRCh38
NC_000023.10:g.29935759C>G , CM000685.1:g.29935759C>G	GRCh37
NC_000023.9:g.29845680C>G	NCBI36
NG_008292.1:g.1335079C>G
NG_008292.2:g.1335079C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.911+46C>G MANE Select	ENSP00000368278.1:n.911+46C>G
ENST00000302196.5:c.134+46C>G	ENSP00000305200.5:n.134+46C>G
ENST00000378993.5:c.911+46C>G	ENSP00000368278.1:n.911+46C>G
NM_014271.3:c.911+46C>G	NP_055086.1:n.911+46C>G
XM_005274441.1:c.911+46C>G	XP_005274498.1:n.911+46C>G
XM_011545445.1:c.911+46C>G	XP_011543747.1:n.911+46C>G
XM_017029240.1:c.911+46C>G	XP_016884729.1:n.911+46C>G
XM_017029241.1:c.533+46C>G	XP_016884730.1:n.533+46C>G
NM_014271.4:c.911+46C>G MANE Select	NP_055086.1:n.911+46C>G