Canonical Allele Identifier: CA412635786

Gene: IL1RAPL1

Linked Data

• ClinVar Variation Id: 1215238
• ClinVar RCV Id: RCV001585120
• dbSNP Id: rs1198210140
• gnomAD v2: X-29935606-A-C
• gnomAD v3: X-29917489-A-C
• gnomAD v4: X-29917489-A-C
• MyVariant Identifiers: chrX:g.29935606A>C (hg19) ; chrX:g.29917489A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917489A>C , CM000685.2:g.29917489A>C	GRCh38
NC_000023.10:g.29935606A>C , CM000685.1:g.29935606A>C	GRCh37
NC_000023.9:g.29845527A>C	NCBI36
NG_008292.1:g.1334926A>C
NG_008292.2:g.1334926A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378993.6:c.804A>C MANE Select	ENSP00000368278.1:p.Arg268Ser
ENST00000302196.5:c.27A>C	ENSP00000305200.5:p.Arg9Ser
ENST00000378993.5:c.804A>C	ENSP00000368278.1:p.Arg268Ser
NM_014271.3:c.804A>C	NP_055086.1:p.Arg268Ser
XM_005274441.1:c.804A>C	XP_005274498.1:p.Arg268Ser
XM_011545445.1:c.804A>C	XP_011543747.1:p.Arg268Ser
XM_017029240.1:c.804A>C	XP_016884729.1:p.Arg268Ser
XM_017029241.1:c.426A>C	XP_016884730.1:p.Arg142Ser
NM_014271.4:c.804A>C MANE Select	NP_055086.1:p.Arg268Ser