Canonical Allele Identifier: CA515840601
Gene: IL1RAPL1 HGNC NCBI

Linked Data

gnomAD v3: X-29917465-T-G
gnomAD v4: X-29917465-T-G
MyVariant Identifiers: chrX:g.29935582T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29917465T>G , CM000685.2:g.29917465T>G GRCh38
NC_000023.10:g.29935582T>G , CM000685.1:g.29935582T>G GRCh37
NC_000023.9:g.29845503T>G NCBI36
NG_008292.1:g.1334902T>G
NG_008292.2:g.1334902T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.780T>G MANE Select ENSP00000368278.1:p.Gly260=
ENST00000302196.5:c.3T>G ENSP00000305200.5:p.Gly1=
ENST00000378993.5:c.780T>G ENSP00000368278.1:p.Gly260=
NM_014271.3:c.780T>G NP_055086.1:p.Gly260=
XM_005274441.1:c.780T>G XP_005274498.1:p.Gly260=
XM_011545445.1:c.780T>G XP_011543747.1:p.Gly260=
XM_017029240.1:c.780T>G XP_016884729.1:p.Gly260=
XM_017029241.1:c.402T>G XP_016884730.1:p.Gly134=
NM_014271.4:c.780T>G MANE Select NP_055086.1:p.Gly260=