Canonical Allele Identifier: CA412635795

Gene: IL1RAPL1

Linked Data

• gnomAD v4: X-29917493-T-C
• MyVariant Identifiers: chrX:g.29935610T>C (hg19) ; chrX:g.29917493T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917493T>C , CM000685.2:g.29917493T>C	GRCh38
NC_000023.10:g.29935610T>C , CM000685.1:g.29935610T>C	GRCh37
NC_000023.9:g.29845531T>C	NCBI36
NG_008292.1:g.1334930T>C
NG_008292.2:g.1334930T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.808T>C MANE Select	ENSP00000368278.1:p.Phe270Leu
ENST00000302196.5:c.31T>C	ENSP00000305200.5:p.Phe11Leu
ENST00000378993.5:c.808T>C	ENSP00000368278.1:p.Phe270Leu
NM_014271.3:c.808T>C	NP_055086.1:p.Phe270Leu
XM_005274441.1:c.808T>C	XP_005274498.1:p.Phe270Leu
XM_011545445.1:c.808T>C	XP_011543747.1:p.Phe270Leu
XM_017029240.1:c.808T>C	XP_016884729.1:p.Phe270Leu
XM_017029241.1:c.430T>C	XP_016884730.1:p.Phe144Leu
NM_014271.4:c.808T>C MANE Select	NP_055086.1:p.Phe270Leu