Canonical Allele Identifier: CA10375500

Gene: IL1RAPL1

Linked Data

• dbSNP Id: rs763691271
• ExAC: X:29935734 C / A
• gnomAD v2: X-29935734-C-A
• gnomAD v4: X-29917617-C-A
• MyVariant Identifiers: chrX:g.29935734C>A (hg19) ; chrX:g.29917617C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917617C>A , CM000685.2:g.29917617C>A	GRCh38
NC_000023.10:g.29935734C>A , CM000685.1:g.29935734C>A	GRCh37
NC_000023.9:g.29845655C>A	NCBI36
NG_008292.1:g.1335054C>A
NG_008292.2:g.1335054C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.911+21C>A MANE Select	ENSP00000368278.1:n.911+21C>A
ENST00000302196.5:c.134+21C>A	ENSP00000305200.5:n.134+21C>A
ENST00000378993.5:c.911+21C>A	ENSP00000368278.1:n.911+21C>A
NM_014271.3:c.911+21C>A	NP_055086.1:n.911+21C>A
XM_005274441.1:c.911+21C>A	XP_005274498.1:n.911+21C>A
XM_011545445.1:c.911+21C>A	XP_011543747.1:n.911+21C>A
XM_017029240.1:c.911+21C>A	XP_016884729.1:n.911+21C>A
XM_017029241.1:c.533+21C>A	XP_016884730.1:n.533+21C>A
NM_014271.4:c.911+21C>A MANE Select	NP_055086.1:n.911+21C>A