Canonical Allele Identifier: CA10375492
Gene: IL1RAPL1 HGNC NCBI

Linked Data

dbSNP Id: rs182138680
ExAC: X:29935648 C / T
gnomAD v2: X-29935648-C-T
gnomAD v3: X-29917531-C-T
gnomAD v4: X-29917531-C-T
MyVariant Identifiers: chrX:g.29935648C>T (hg19) chrX:g.29917531C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29917531C>T , CM000685.2:g.29917531C>T GRCh38
NC_000023.10:g.29935648C>T , CM000685.1:g.29935648C>T GRCh37
NC_000023.9:g.29845569C>T NCBI36
NG_008292.1:g.1334968C>T
NG_008292.2:g.1334968C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.846C>T MANE Select ENSP00000368278.1:p.Tyr282=
ENST00000302196.5:c.69C>T ENSP00000305200.5:p.Tyr23=
ENST00000378993.5:c.846C>T ENSP00000368278.1:p.Tyr282=
NM_014271.3:c.846C>T NP_055086.1:p.Tyr282=
XM_005274441.1:c.846C>T XP_005274498.1:p.Tyr282=
XM_011545445.1:c.846C>T XP_011543747.1:p.Tyr282=
XM_017029240.1:c.846C>T XP_016884729.1:p.Tyr282=
XM_017029241.1:c.468C>T XP_016884730.1:p.Tyr156=
NM_014271.4:c.846C>T MANE Select NP_055086.1:p.Tyr282=
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