Canonical Allele Identifier: CA412632688

Gene: IL1RAPL1

Linked Data

• MyVariant Identifiers: chrX:g.29417374T>A (hg19) ; chrX:g.29399257T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29399257T>A , CM000685.2:g.29399257T>A	GRCh38
NC_000023.10:g.29417374T>A , CM000685.1:g.29417374T>A	GRCh37
NC_000023.9:g.29327295T>A	NCBI36
NG_008292.1:g.816694T>A
NG_008292.2:g.816694T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.652T>A MANE Select	ENSP00000368278.1:p.Leu218Ile
ENST00000378993.5:c.652T>A	ENSP00000368278.1:p.Leu218Ile
NM_014271.3:c.652T>A	NP_055086.1:p.Leu218Ile
XM_005274441.1:c.652T>A	XP_005274498.1:p.Leu218Ile
XM_011545445.1:c.652T>A	XP_011543747.1:p.Leu218Ile
XM_017029240.1:c.652T>A	XP_016884729.1:p.Leu218Ile
XM_017029241.1:c.274T>A	XP_016884730.1:p.Leu92Ile
NM_014271.4:c.652T>A MANE Select	NP_055086.1:p.Leu218Ile