Canonical Allele Identifier: CA515840416
Gene: IL1RAPL1 HGNC NCBI

Linked Data

dbSNP Id: rs1292154002
gnomAD v2: X-29417370-T-C
gnomAD v3: X-29399253-T-C
gnomAD v4: X-29399253-T-C
MyVariant Identifiers: chrX:g.29417370T>C (hg19) chrX:g.29399253T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29399253T>C , CM000685.2:g.29399253T>C GRCh38
NC_000023.10:g.29417370T>C , CM000685.1:g.29417370T>C GRCh37
NC_000023.9:g.29327291T>C NCBI36
NG_008292.1:g.816690T>C
NG_008292.2:g.816690T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.648T>C MANE Select ENSP00000368278.1:p.Cys216=
ENST00000378993.5:c.648T>C ENSP00000368278.1:p.Cys216=
NM_014271.3:c.648T>C NP_055086.1:p.Cys216=
XM_005274441.1:c.648T>C XP_005274498.1:p.Cys216=
XM_011545445.1:c.648T>C XP_011543747.1:p.Cys216=
XM_017029240.1:c.648T>C XP_016884729.1:p.Cys216=
XM_017029241.1:c.270T>C XP_016884730.1:p.Cys90=
NM_014271.4:c.648T>C MANE Select NP_055086.1:p.Cys216=
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