Canonical Allele Identifier: CA412635963

Gene: IL1RAPL1

Linked Data

• MyVariant Identifiers: chrX:g.29935680T>A (hg19) ; chrX:g.29917563T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917563T>A , CM000685.2:g.29917563T>A	GRCh38
NC_000023.10:g.29935680T>A , CM000685.1:g.29935680T>A	GRCh37
NC_000023.9:g.29845601T>A	NCBI36
NG_008292.1:g.1335000T>A
NG_008292.2:g.1335000T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.878T>A MANE Select	ENSP00000368278.1:p.Leu293Gln
ENST00000302196.5:c.101T>A	ENSP00000305200.5:p.Leu34Gln
ENST00000378993.5:c.878T>A	ENSP00000368278.1:p.Leu293Gln
NM_014271.3:c.878T>A	NP_055086.1:p.Leu293Gln
XM_005274441.1:c.878T>A	XP_005274498.1:p.Leu293Gln
XM_011545445.1:c.878T>A	XP_011543747.1:p.Leu293Gln
XM_017029240.1:c.878T>A	XP_016884729.1:p.Leu293Gln
XM_017029241.1:c.500T>A	XP_016884730.1:p.Leu167Gln
NM_014271.4:c.878T>A MANE Select	NP_055086.1:p.Leu293Gln