Canonical Allele Identifier: CA293100

Gene: RPL11

Linked Data

• ClinVar Variation Id: 138926
• ClinVar RCV Id: RCV000387712 ; RCV001795247
• dbSNP Id: rs10917413
• ExAC: 1:24018277 C / G
• gnomAD v2: 1-24018277-C-G
• gnomAD v3: 1-23691787-C-G
• gnomAD v4: 1-23691787-C-G
• MyVariant Identifiers: chr1:g.24018277C>G (hg19) ; chr1:g.23691787C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23691787C>G , CM000663.2:g.23691787C>G	GRCh38
NC_000001.10:g.24018277C>G , CM000663.1:g.24018277C>G	GRCh37
NC_000001.9:g.23890864C>G	NCBI36
NG_011741.1:g.4984C>G
NG_011741.2:g.5009C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374550.8:c.-37C>G	ENSP00000363676.4:n.-37C>G
ENST00000374550.7:c.-37C>G	ENSP00000363676.3:n.-37C>G
NM_000975.3:c.-37C>G	NP_000966.2:n.-37C>G
NM_001199802.1:c.-37C>G	NP_001186731.1:n.-37C>G