Canonical Allele Identifier: CA10375496

Gene: IL1RAPL1

Linked Data

• dbSNP Id: rs775048888
• ExAC: X:29935709 A / G
• gnomAD v2: X-29935709-A-G
• gnomAD v4: X-29917592-A-G
• MyVariant Identifiers: chrX:g.29935709A>G (hg19) ; chrX:g.29917592A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917592A>G , CM000685.2:g.29917592A>G	GRCh38
NC_000023.10:g.29935709A>G , CM000685.1:g.29935709A>G	GRCh37
NC_000023.9:g.29845630A>G	NCBI36
NG_008292.1:g.1335029A>G
NG_008292.2:g.1335029A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.907A>G MANE Select	ENSP00000368278.1:p.Ile303Val
ENST00000302196.5:c.130A>G	ENSP00000305200.5:p.Ile44Val
ENST00000378993.5:c.907A>G	ENSP00000368278.1:p.Ile303Val
NM_014271.3:c.907A>G	NP_055086.1:p.Ile303Val
XM_005274441.1:c.907A>G	XP_005274498.1:p.Ile303Val
XM_011545445.1:c.907A>G	XP_011543747.1:p.Ile303Val
XM_017029240.1:c.907A>G	XP_016884729.1:p.Ile303Val
XM_017029241.1:c.529A>G	XP_016884730.1:p.Ile177Val
NM_014271.4:c.907A>G MANE Select	NP_055086.1:p.Ile303Val