Canonical Allele Identifier: CA412635992

Gene: IL1RAPL1

Linked Data

• ClinVar Variation Id: 3109256
• ClinVar RCV Id: RCV004405123
• gnomAD v4: X-29917575-G-A
• MyVariant Identifiers: chrX:g.29935692G>A (hg19) ; chrX:g.29917575G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917575G>A , CM000685.2:g.29917575G>A	GRCh38
NC_000023.10:g.29935692G>A , CM000685.1:g.29935692G>A	GRCh37
NC_000023.9:g.29845613G>A	NCBI36
NG_008292.1:g.1335012G>A
NG_008292.2:g.1335012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.890G>A MANE Select	ENSP00000368278.1:p.Arg297Gln
ENST00000302196.5:c.113G>A	ENSP00000305200.5:p.Arg38Gln
ENST00000378993.5:c.890G>A	ENSP00000368278.1:p.Arg297Gln
NM_014271.3:c.890G>A	NP_055086.1:p.Arg297Gln
XM_005274441.1:c.890G>A	XP_005274498.1:p.Arg297Gln
XM_011545445.1:c.890G>A	XP_011543747.1:p.Arg297Gln
XM_017029240.1:c.890G>A	XP_016884729.1:p.Arg297Gln
XM_017029241.1:c.512G>A	XP_016884730.1:p.Arg171Gln
NM_014271.4:c.890G>A MANE Select	NP_055086.1:p.Arg297Gln