Canonical Allele Identifier: CA412635785

Gene: IL1RAPL1

Linked Data

• gnomAD v4: X-29917488-G-T
• MyVariant Identifiers: chrX:g.29935605G>T (hg19) ; chrX:g.29917488G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917488G>T , CM000685.2:g.29917488G>T	GRCh38
NC_000023.10:g.29935605G>T , CM000685.1:g.29935605G>T	GRCh37
NC_000023.9:g.29845526G>T	NCBI36
NG_008292.1:g.1334925G>T
NG_008292.2:g.1334925G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378993.6:c.803G>T MANE Select	ENSP00000368278.1:p.Arg268Ile
ENST00000302196.5:c.26G>T	ENSP00000305200.5:p.Arg9Ile
ENST00000378993.5:c.803G>T	ENSP00000368278.1:p.Arg268Ile
NM_014271.3:c.803G>T	NP_055086.1:p.Arg268Ile
XM_005274441.1:c.803G>T	XP_005274498.1:p.Arg268Ile
XM_011545445.1:c.803G>T	XP_011543747.1:p.Arg268Ile
XM_017029240.1:c.803G>T	XP_016884729.1:p.Arg268Ile
XM_017029241.1:c.425G>T	XP_016884730.1:p.Arg142Ile
NM_014271.4:c.803G>T MANE Select	NP_055086.1:p.Arg268Ile