Canonical Allele Identifier: CA10375499

Gene: IL1RAPL1

Linked Data

• dbSNP Id: rs760355758
• ExAC: X:29935719 T / A
• gnomAD v2: X-29935719-T-A
• gnomAD v3: X-29917602-T-A
• gnomAD v4: X-29917602-T-A
• MyVariant Identifiers: chrX:g.29935719T>A (hg19) ; chrX:g.29917602T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917602T>A , CM000685.2:g.29917602T>A	GRCh38
NC_000023.10:g.29935719T>A , CM000685.1:g.29935719T>A	GRCh37
NC_000023.9:g.29845640T>A	NCBI36
NG_008292.1:g.1335039T>A
NG_008292.2:g.1335039T>A

Transcript Alleles

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