Canonical Allele Identifier: CA515840669

Gene: IL1RAPL1

Linked Data

• dbSNP Id: rs1280262782
• gnomAD v4: X-29917591-C-T
• MyVariant Identifiers: chrX:g.29935708C>T (hg19) ; chrX:g.29917591C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917591C>T , CM000685.2:g.29917591C>T	GRCh38
NC_000023.10:g.29935708C>T , CM000685.1:g.29935708C>T	GRCh37
NC_000023.9:g.29845629C>T	NCBI36
NG_008292.1:g.1335028C>T
NG_008292.2:g.1335028C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.906C>T MANE Select	ENSP00000368278.1:p.Asp302=
ENST00000302196.5:c.129C>T	ENSP00000305200.5:p.Asp43=
ENST00000378993.5:c.906C>T	ENSP00000368278.1:p.Asp302=
NM_014271.3:c.906C>T	NP_055086.1:p.Asp302=
XM_005274441.1:c.906C>T	XP_005274498.1:p.Asp302=
XM_011545445.1:c.906C>T	XP_011543747.1:p.Asp302=
XM_017029240.1:c.906C>T	XP_016884729.1:p.Asp302=
XM_017029241.1:c.528C>T	XP_016884730.1:p.Asp176=
NM_014271.4:c.906C>T MANE Select	NP_055086.1:p.Asp302=