Canonical Allele Identifier: CA412635961

Gene: IL1RAPL1

Linked Data

• gnomAD v4: X-29917562-C-A
• MyVariant Identifiers: chrX:g.29935679C>A (hg19) ; chrX:g.29917562C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917562C>A , CM000685.2:g.29917562C>A	GRCh38
NC_000023.10:g.29935679C>A , CM000685.1:g.29935679C>A	GRCh37
NC_000023.9:g.29845600C>A	NCBI36
NG_008292.1:g.1334999C>A
NG_008292.2:g.1334999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.877C>A MANE Select	ENSP00000368278.1:p.Leu293Met
ENST00000302196.5:c.100C>A	ENSP00000305200.5:p.Leu34Met
ENST00000378993.5:c.877C>A	ENSP00000368278.1:p.Leu293Met
NM_014271.3:c.877C>A	NP_055086.1:p.Leu293Met
XM_005274441.1:c.877C>A	XP_005274498.1:p.Leu293Met
XM_011545445.1:c.877C>A	XP_011543747.1:p.Leu293Met
XM_017029240.1:c.877C>A	XP_016884729.1:p.Leu293Met
XM_017029241.1:c.499C>A	XP_016884730.1:p.Leu167Met
NM_014271.4:c.877C>A MANE Select	NP_055086.1:p.Leu293Met