Canonical Allele Identifier: CA412632627

Gene: IL1RAPL1

Linked Data

• gnomAD v4: X-29399230-G-C
• MyVariant Identifiers: chrX:g.29417347G>C (hg19) ; chrX:g.29399230G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29399230G>C , CM000685.2:g.29399230G>C	GRCh38
NC_000023.10:g.29417347G>C , CM000685.1:g.29417347G>C	GRCh37
NC_000023.9:g.29327268G>C	NCBI36
NG_008292.1:g.816667G>C
NG_008292.2:g.816667G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.625G>C MANE Select	ENSP00000368278.1:p.Asp209His
ENST00000378993.5:c.625G>C	ENSP00000368278.1:p.Asp209His
NM_014271.3:c.625G>C	NP_055086.1:p.Asp209His
XM_005274441.1:c.625G>C	XP_005274498.1:p.Asp209His
XM_011545445.1:c.625G>C	XP_011543747.1:p.Asp209His
XM_017029240.1:c.625G>C	XP_016884729.1:p.Asp209His
XM_017029241.1:c.247G>C	XP_016884730.1:p.Asp83His
NM_014271.4:c.625G>C MANE Select	NP_055086.1:p.Asp209His