Canonical Allele Identifier: CA10375485

Gene: IL1RAPL1

Linked Data

• dbSNP Id: rs753934234
• ExAC: X:29935550 T / C
• gnomAD v2: X-29935550-T-C
• gnomAD v4: X-29917433-T-C
• MyVariant Identifiers: chrX:g.29935550T>C (hg19) ; chrX:g.29917433T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.29917433T>C , CM000685.2:g.29917433T>C	GRCh38
NC_000023.10:g.29935550T>C , CM000685.1:g.29935550T>C	GRCh37
NC_000023.9:g.29845471T>C	NCBI36
NG_008292.1:g.1334870T>C
NG_008292.2:g.1334870T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378993.6:c.779-31T>C MANE Select	ENSP00000368278.1:n.779-31T>C
ENST00000378993.5:c.779-31T>C	ENSP00000368278.1:n.779-31T>C
NM_014271.3:c.779-31T>C	NP_055086.1:n.779-31T>C
XM_005274441.1:c.779-31T>C	XP_005274498.1:n.779-31T>C
XM_011545445.1:c.779-31T>C	XP_011543747.1:n.779-31T>C
XM_017029240.1:c.779-31T>C	XP_016884729.1:n.779-31T>C
XM_017029241.1:c.401-31T>C	XP_016884730.1:n.401-31T>C
NM_014271.4:c.779-31T>C MANE Select	NP_055086.1:n.779-31T>C