Canonical Allele Identifier: CA412632732

Gene: IL1RAPL1

Linked Data

• dbSNP Id: rs1933958150
• MyVariant Identifiers: chrX:g.29417392G>T (hg19) ; chrX:g.29399275G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29399275G>T , CM000685.2:g.29399275G>T	GRCh38
NC_000023.10:g.29417392G>T , CM000685.1:g.29417392G>T	GRCh37
NC_000023.9:g.29327313G>T	NCBI36
NG_008292.1:g.816712G>T
NG_008292.2:g.816712G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.670G>T MANE Select	ENSP00000368278.1:p.Val224Phe
ENST00000378993.5:c.670G>T	ENSP00000368278.1:p.Val224Phe
NM_014271.3:c.670G>T	NP_055086.1:p.Val224Phe
XM_005274441.1:c.670G>T	XP_005274498.1:p.Val224Phe
XM_011545445.1:c.670G>T	XP_011543747.1:p.Val224Phe
XM_017029240.1:c.670G>T	XP_016884729.1:p.Val224Phe
XM_017029241.1:c.292G>T	XP_016884730.1:p.Val98Phe
NM_014271.4:c.670G>T MANE Select	NP_055086.1:p.Val224Phe