Canonical Allele Identifier: CA412635979

Gene: IL1RAPL1

Linked Data

• ClinVar Variation Id: 1712525
• ClinVar RCV Id: RCV002300697
• MyVariant Identifiers: chrX:g.29935686A>G (hg19) ; chrX:g.29917569A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917569A>G , CM000685.2:g.29917569A>G	GRCh38
NC_000023.10:g.29935686A>G , CM000685.1:g.29935686A>G	GRCh37
NC_000023.9:g.29845607A>G	NCBI36
NG_008292.1:g.1335006A>G
NG_008292.2:g.1335006A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.884A>G MANE Select	ENSP00000368278.1:p.Glu295Gly
ENST00000302196.5:c.107A>G	ENSP00000305200.5:p.Glu36Gly
ENST00000378993.5:c.884A>G	ENSP00000368278.1:p.Glu295Gly
NM_014271.3:c.884A>G	NP_055086.1:p.Glu295Gly
XM_005274441.1:c.884A>G	XP_005274498.1:p.Glu295Gly
XM_011545445.1:c.884A>G	XP_011543747.1:p.Glu295Gly
XM_017029240.1:c.884A>G	XP_016884729.1:p.Glu295Gly
XM_017029241.1:c.506A>G	XP_016884730.1:p.Glu169Gly
NM_014271.4:c.884A>G MANE Select	NP_055086.1:p.Glu295Gly