Canonical Allele Identifier: CA163349

Gene: RPL21

Linked Data

• ClinVar Variation Id: 139638
• ClinVar RCV Id: RCV000128579
• dbSNP Id: rs587777527
• gnomAD v4: 13-27254247-G-A
• COSMIC: COSM3417499
• MyVariant Identifiers: chr13:g.27828384G>A (hg19) ; chr13:g.27254247G>A (hg38)
• PubMed: PMID:19751230 ; PMID:21412954

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27254247G>A , CM000675.2:g.27254247G>A	GRCh38
NC_000013.10:g.27828384G>A , CM000675.1:g.27828384G>A	GRCh37
NC_000013.9:g.26726384G>A	NCBI36
NG_046927.1:g.7693G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000311549.11:c.95G>A MANE Select	ENSP00000346027.4:p.Arg32Gln
ENST00000272274.8:c.95G>A	ENSP00000351021.2:p.Arg32Gln
ENST00000311549.10:c.95G>A	ENSP00000346027.4:p.Arg32Gln
ENST00000319826.8:c.95G>A	ENSP00000370574.1:p.Arg32Gln
ENST00000326092.8:c.95G>A	ENSP00000370569.1:p.Arg32Gln
ENST00000461690.5:c.95G>A	ENSP00000434298.1:p.Arg32Gln
ENST00000466550.1:n.107G>A
ENST00000473558.5:n.331G>A
ENST00000483765.5:c.67+404G>A	ENSP00000473246.1:n.67+404G>A
ENST00000493317.1:c.95G>A	ENSP00000471695.1:p.Arg32Gln
NM_000982.3:c.95G>A	NP_000973.2:p.Arg32Gln
NM_000982.4:c.95G>A MANE Select	NP_000973.2:p.Arg32Gln