Canonical Allele Identifier: CA412635891

Gene: IL1RAPL1

Linked Data

• COSMIC: COSM457325 ; COSM457326
• MyVariant Identifiers: chrX:g.29935650G>T (hg19) ; chrX:g.29917533G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917533G>T , CM000685.2:g.29917533G>T	GRCh38
NC_000023.10:g.29935650G>T , CM000685.1:g.29935650G>T	GRCh37
NC_000023.9:g.29845571G>T	NCBI36
NG_008292.1:g.1334970G>T
NG_008292.2:g.1334970G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.848G>T MANE Select	ENSP00000368278.1:p.Trp283Leu
ENST00000302196.5:c.71G>T	ENSP00000305200.5:p.Trp24Leu
ENST00000378993.5:c.848G>T	ENSP00000368278.1:p.Trp283Leu
NM_014271.3:c.848G>T	NP_055086.1:p.Trp283Leu
XM_005274441.1:c.848G>T	XP_005274498.1:p.Trp283Leu
XM_011545445.1:c.848G>T	XP_011543747.1:p.Trp283Leu
XM_017029240.1:c.848G>T	XP_016884729.1:p.Trp283Leu
XM_017029241.1:c.470G>T	XP_016884730.1:p.Trp157Leu
NM_014271.4:c.848G>T MANE Select	NP_055086.1:p.Trp283Leu