Canonical Allele Identifier: CA952466
Gene: RPL5 HGNC NCBI
DIPK1A HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.92836291C>G
GRCh37 chr1:g.93301848C>G
Revel Score:
ENST00000432788 0.380
ENST00000370321 (MANE Select) 0.380
ENST00000315741 0.380
gnomAD v2:
1:93301848 C / G
gnomAD v3:
1:92836291 C / G
gnomAD v4:
chr1-92836291-C-G
Joint Max Group AF 0.0003503 (SAS)
Genomes Max Group AF 0.0002819 (SAS)
Exomes Max Group AF 0.00032954 (SAS)
ClinVar RCV:
RCV000536846
RCV002476139
ClinVar Variation:
463367
dbSNP:
11540836
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92836291C>G , CM000663.2:g.92836291C>G GRCh38
NC_000001.10:g.93301848C>G , CM000663.1:g.93301848C>G GRCh37
NC_000001.9:g.93074436C>G NCBI36
NG_011779.1:g.9255C>G
NG_033051.1:g.130232G>C
NG_011779.2:g.9306C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.426C>G (RPL5) MANE Select ENSP00000359345.2:p.Phe142Leu
ENST00000645119.1:c.324+1378C>G (RPL5) ENSP00000493811.1:n.324+1378C>G
ENST00000645300.1:c.276C>G (RPL5) ENSP00000495589.1:p.Phe92Leu
ENST00000645908.1:n.160C>G (RPL5)
ENST00000315741.5:c.276C>G (RPL5) ENSP00000359338.2:p.Phe92Leu
ENST00000370321.7:c.426C>G (RPL5) ENSP00000359345.2:p.Phe142Leu
ENST00000470843.5:c.*388C>G (RPL5) ENSP00000473675.1:n.*388C>G
ENST00000615519.4:c.475-3257G>C (DIPK1A) ENSP00000483279.1:n.475-3257G>C
NM_000969.3:c.426C>G (RPL5) NP_000960.2:p.Phe142Leu
NM_001252273.1:c.475-3257G>C (DIPK1A) NP_001239202.1:n.475-3257G>C
NM_000969.5:c.426C>G (RPL5) MANE Select NP_000960.2:p.Phe142Leu
NR_146333.1:n.485C>G (RPL5)
NM_001252273.2:c.475-3257G>C (DIPK1A) NP_001239202.1:n.475-3257G>C
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