Canonical Allele Identifier: CA412632668

Gene: IL1RAPL1

Linked Data

• gnomAD v4: X-29399248-A-G
• MyVariant Identifiers: chrX:g.29417365A>G (hg19) ; chrX:g.29399248A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29399248A>G , CM000685.2:g.29399248A>G	GRCh38
NC_000023.10:g.29417365A>G , CM000685.1:g.29417365A>G	GRCh37
NC_000023.9:g.29327286A>G	NCBI36
NG_008292.1:g.816685A>G
NG_008292.2:g.816685A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.643A>G MANE Select	ENSP00000368278.1:p.Thr215Ala
ENST00000378993.5:c.643A>G	ENSP00000368278.1:p.Thr215Ala
NM_014271.3:c.643A>G	NP_055086.1:p.Thr215Ala
XM_005274441.1:c.643A>G	XP_005274498.1:p.Thr215Ala
XM_011545445.1:c.643A>G	XP_011543747.1:p.Thr215Ala
XM_017029240.1:c.643A>G	XP_016884729.1:p.Thr215Ala
XM_017029241.1:c.265A>G	XP_016884730.1:p.Thr89Ala
NM_014271.4:c.643A>G MANE Select	NP_055086.1:p.Thr215Ala