Canonical Allele Identifier: CA412632769

Gene: IL1RAPL1

Linked Data

• dbSNP Id: rs1933958509
• MyVariant Identifiers: chrX:g.29417411A>C (hg19) ; chrX:g.29399294A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29399294A>C , CM000685.2:g.29399294A>C	GRCh38
NC_000023.10:g.29417411A>C , CM000685.1:g.29417411A>C	GRCh37
NC_000023.9:g.29327332A>C	NCBI36
NG_008292.1:g.816731A>C
NG_008292.2:g.816731A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.689A>C MANE Select	ENSP00000368278.1:p.Glu230Ala
ENST00000378993.5:c.689A>C	ENSP00000368278.1:p.Glu230Ala
NM_014271.3:c.689A>C	NP_055086.1:p.Glu230Ala
XM_005274441.1:c.689A>C	XP_005274498.1:p.Glu230Ala
XM_011545445.1:c.689A>C	XP_011543747.1:p.Glu230Ala
XM_017029240.1:c.689A>C	XP_016884729.1:p.Glu230Ala
XM_017029241.1:c.311A>C	XP_016884730.1:p.Glu104Ala
NM_014271.4:c.689A>C MANE Select	NP_055086.1:p.Glu230Ala