Canonical Allele Identifier: CA412635917

Gene: IL1RAPL1

Linked Data

• COSMIC: COSM261412 ; COSM261413
• MyVariant Identifiers: chrX:g.29935661G>A (hg19) ; chrX:g.29917544G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917544G>A , CM000685.2:g.29917544G>A	GRCh38
NC_000023.10:g.29935661G>A , CM000685.1:g.29935661G>A	GRCh37
NC_000023.9:g.29845582G>A	NCBI36
NG_008292.1:g.1334981G>A
NG_008292.2:g.1334981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.859G>A MANE Select	ENSP00000368278.1:p.Glu287Lys
ENST00000302196.5:c.82G>A	ENSP00000305200.5:p.Glu28Lys
ENST00000378993.5:c.859G>A	ENSP00000368278.1:p.Glu287Lys
NM_014271.3:c.859G>A	NP_055086.1:p.Glu287Lys
XM_005274441.1:c.859G>A	XP_005274498.1:p.Glu287Lys
XM_011545445.1:c.859G>A	XP_011543747.1:p.Glu287Lys
XM_017029240.1:c.859G>A	XP_016884729.1:p.Glu287Lys
XM_017029241.1:c.481G>A	XP_016884730.1:p.Glu161Lys
NM_014271.4:c.859G>A MANE Select	NP_055086.1:p.Glu287Lys