Canonical Allele Identifier: CA10375502

Gene: IL1RAPL1

Linked Data

• dbSNP Id: rs761246673
• ExAC: X:29935763 A / C
• gnomAD v2: X-29935763-A-C
• gnomAD v3: X-29917646-A-C
• gnomAD v4: X-29917646-A-C
• MyVariant Identifiers: chrX:g.29935763A>C (hg19) ; chrX:g.29917646A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917646A>C , CM000685.2:g.29917646A>C	GRCh38
NC_000023.10:g.29935763A>C , CM000685.1:g.29935763A>C	GRCh37
NC_000023.9:g.29845684A>C	NCBI36
NG_008292.1:g.1335083A>C
NG_008292.2:g.1335083A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.911+50A>C MANE Select	ENSP00000368278.1:n.911+50A>C
ENST00000302196.5:c.134+50A>C	ENSP00000305200.5:n.134+50A>C
ENST00000378993.5:c.911+50A>C	ENSP00000368278.1:n.911+50A>C
NM_014271.3:c.911+50A>C	NP_055086.1:n.911+50A>C
XM_005274441.1:c.911+50A>C	XP_005274498.1:n.911+50A>C
XM_011545445.1:c.911+50A>C	XP_011543747.1:n.911+50A>C
XM_017029240.1:c.911+50A>C	XP_016884729.1:n.911+50A>C
XM_017029241.1:c.533+50A>C	XP_016884730.1:n.533+50A>C
NM_014271.4:c.911+50A>C MANE Select	NP_055086.1:n.911+50A>C