Canonical Allele Identifier: CA10375348

Gene: IL1RAPL1

Linked Data

• ClinVar Variation Id: 281021
• ClinVar RCV Id: RCV000289385 ; RCV000382997 ; RCV001610769
• dbSNP Id: rs6526806
• ExAC: X:28807442 G / A
• gnomAD v2: X-28807442-G-A
• gnomAD v3: X-28789325-G-A
• gnomAD v4: X-28789325-G-A
• MyVariant Identifiers: chrX:g.28807442G>A (hg19) ; chrX:g.28789325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.28789325G>A , CM000685.2:g.28789325G>A	GRCh38
NC_000023.10:g.28807442G>A , CM000685.1:g.28807442G>A	GRCh37
NC_000023.9:g.28717363G>A	NCBI36
NG_008292.1:g.206762G>A
NG_008292.2:g.206762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.-19G>A MANE Select	ENSP00000368278.1:n.-19G>A
ENST00000378993.5:c.-19G>A	ENSP00000368278.1:n.-19G>A
NM_014271.3:c.-19G>A	NP_055086.1:n.-19G>A
XM_005274441.1:c.-19G>A	XP_005274498.1:n.-19G>A
XM_011545445.1:c.-19G>A	XP_011543747.1:n.-19G>A
XM_017029240.1:c.-19G>A	XP_016884729.1:n.-19G>A
NM_014271.4:c.-19G>A MANE Select	NP_055086.1:n.-19G>A