Canonical Allele Identifier: CA412635899

Gene: IL1RAPL1

Linked Data

• dbSNP Id: rs1569202784
• gnomAD v4: X-29917536-T-C
• MyVariant Identifiers: chrX:g.29935653T>C (hg19) ; chrX:g.29917536T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917536T>C , CM000685.2:g.29917536T>C	GRCh38
NC_000023.10:g.29935653T>C , CM000685.1:g.29935653T>C	GRCh37
NC_000023.9:g.29845574T>C	NCBI36
NG_008292.1:g.1334973T>C
NG_008292.2:g.1334973T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.851T>C MANE Select	ENSP00000368278.1:p.Met284Thr
ENST00000302196.5:c.74T>C	ENSP00000305200.5:p.Met25Thr
ENST00000378993.5:c.851T>C	ENSP00000368278.1:p.Met284Thr
NM_014271.3:c.851T>C	NP_055086.1:p.Met284Thr
XM_005274441.1:c.851T>C	XP_005274498.1:p.Met284Thr
XM_011545445.1:c.851T>C	XP_011543747.1:p.Met284Thr
XM_017029240.1:c.851T>C	XP_016884729.1:p.Met284Thr
XM_017029241.1:c.473T>C	XP_016884730.1:p.Met158Thr
NM_014271.4:c.851T>C MANE Select	NP_055086.1:p.Met284Thr