Canonical Allele Identifier: CA412635977

Gene: IL1RAPL1

Linked Data

• gnomAD v4: X-29917569-A-C
• MyVariant Identifiers: chrX:g.29935686A>C (hg19) ; chrX:g.29917569A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917569A>C , CM000685.2:g.29917569A>C	GRCh38
NC_000023.10:g.29935686A>C , CM000685.1:g.29935686A>C	GRCh37
NC_000023.9:g.29845607A>C	NCBI36
NG_008292.1:g.1335006A>C
NG_008292.2:g.1335006A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.884A>C MANE Select	ENSP00000368278.1:p.Glu295Ala
ENST00000302196.5:c.107A>C	ENSP00000305200.5:p.Glu36Ala
ENST00000378993.5:c.884A>C	ENSP00000368278.1:p.Glu295Ala
NM_014271.3:c.884A>C	NP_055086.1:p.Glu295Ala
XM_005274441.1:c.884A>C	XP_005274498.1:p.Glu295Ala
XM_011545445.1:c.884A>C	XP_011543747.1:p.Glu295Ala
XM_017029240.1:c.884A>C	XP_016884729.1:p.Glu295Ala
XM_017029241.1:c.506A>C	XP_016884730.1:p.Glu169Ala
NM_014271.4:c.884A>C MANE Select	NP_055086.1:p.Glu295Ala