Canonical Allele Identifier: CA515840433
Gene: IL1RAPL1 HGNC NCBI

Linked Data

dbSNP Id: rs1406118182
gnomAD v2: X-29417388-C-G
gnomAD v3: X-29399271-C-G
gnomAD v4: X-29399271-C-G
MyVariant Identifiers: chrX:g.29417388C>G (hg19) chrX:g.29399271C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29399271C>G , CM000685.2:g.29399271C>G GRCh38
NC_000023.10:g.29417388C>G , CM000685.1:g.29417388C>G GRCh37
NC_000023.9:g.29327309C>G NCBI36
NG_008292.1:g.816708C>G
NG_008292.2:g.816708C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.666C>G MANE Select ENSP00000368278.1:p.Gly222=
ENST00000378993.5:c.666C>G ENSP00000368278.1:p.Gly222=
NM_014271.3:c.666C>G NP_055086.1:p.Gly222=
XM_005274441.1:c.666C>G XP_005274498.1:p.Gly222=
XM_011545445.1:c.666C>G XP_011543747.1:p.Gly222=
XM_017029240.1:c.666C>G XP_016884729.1:p.Gly222=
XM_017029241.1:c.288C>G XP_016884730.1:p.Gly96=
NM_014271.4:c.666C>G MANE Select NP_055086.1:p.Gly222=
Search 100 bp 5'
Search 100 bp 3'