Canonical Allele Identifier: CA684223
Gene: RPL11 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.23693907T>G
GRCh37 chr1:g.24020397T>G
gnomAD v2:
1:24020397 T / G
gnomAD v3:
1:23693907 T / G
gnomAD v4:
chr1-23693907-T-G
Joint Max Group AF 0.00008998 (AMR)
Genomes Max Group AF 0.00002262 (AMR)
Exomes Max Group AF 0.00008861 (AMR)
ClinVar RCV:
RCV001442071
RCV003129814
ClinVar Variation:
238201
dbSNP:
760885169
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23693907T>G , CM000663.2:g.23693907T>G GRCh38
NC_000001.10:g.24020397T>G , CM000663.1:g.24020397T>G GRCh37
NC_000001.9:g.23892984T>G NCBI36
NG_011741.1:g.7104T>G
NG_011741.2:g.7129T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374550.8:c.255T>G ENSP00000363676.4:p.Gly85=
ENST00000443624.6:n.276T>G
ENST00000458455.2:c.225T>G ENSP00000398888.2:p.Gly75=
ENST00000467075.2:c.*354T>G ENSP00000493634.1:n.*354T>G
ENST00000482370.2:n.252T>G
ENST00000643754.2:c.258T>G MANE Select ENSP00000496250.1:p.Gly86=
ENST00000374550.7:c.258T>G ENSP00000363676.3:p.Gly86=
ENST00000443624.5:c.252T>G ENSP00000390839.1:p.Gly84=
ENST00000458455.1:c.252T>G ENSP00000398888.1:p.Gly84=
ENST00000482370.1:n.555T>G
NM_000975.3:c.258T>G NP_000966.2:p.Gly86=
NM_001199802.1:c.255T>G NP_001186731.1:p.Gly85=
NM_000975.5:c.258T>G MANE Select NP_000966.2:p.Gly86=
Search 100 bp 5'
Search 100 bp 3'