Canonical Allele Identifier: CA10375448
Gene: IL1RAPL1 HGNC NCBI

Linked Data

dbSNP Id: rs768833006
ExAC: X:29417421 T / C
gnomAD v2: X-29417421-T-C
gnomAD v3: X-29399304-T-C
gnomAD v4: X-29399304-T-C
MyVariant Identifiers: chrX:g.29417421T>C (hg19) chrX:g.29399304T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.29399304T>C , CM000685.2:g.29399304T>C GRCh38
NC_000023.10:g.29417421T>C , CM000685.1:g.29417421T>C GRCh37
NC_000023.9:g.29327342T>C NCBI36
NG_008292.1:g.816741T>C
NG_008292.2:g.816741T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378993.6:c.699T>C MANE Select ENSP00000368278.1:p.Val233=
ENST00000378993.5:c.699T>C ENSP00000368278.1:p.Val233=
NM_014271.3:c.699T>C NP_055086.1:p.Val233=
XM_005274441.1:c.699T>C XP_005274498.1:p.Val233=
XM_011545445.1:c.699T>C XP_011543747.1:p.Val233=
XM_017029240.1:c.699T>C XP_016884729.1:p.Val233=
XM_017029241.1:c.321T>C XP_016884730.1:p.Val107=
NM_014271.4:c.699T>C MANE Select NP_055086.1:p.Val233=
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