Canonical Allele Identifier: CA10357925
Gene: RBBP7 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.16863002T>C
GRCh37 chrX:g.16881125T>C
Revel Score:
ENST00000380087 (MANE Select) 0.113
ENST00000380084 0.113
ENST00000404022 0.113
ENST00000416035 0.113
ENST00000468092 0.113
gnomAD v2:
X:16881125 T / C
gnomAD v3:
X:16863002 T / C
gnomAD v4:
chrX-16863002-T-C
Joint Max Group AF 0.0000081 (NFE)
Genomes Max Group AF 0.00000624 (NFE)
Exomes Max Group AF 0.00000701 (NFE)
ClinVar RCV:
RCV004244267
ClinVar Variation:
2411468
dbSNP:
141907824
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.16863002T>C , CM000685.2:g.16863002T>C GRCh38
NC_000023.10:g.16881125T>C , CM000685.1:g.16881125T>C GRCh37
NC_000023.9:g.16791046T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380087.7:c.260A>G MANE Select ENSP00000369427.3:p.Asn87Ser
ENST00000380084.8:c.392A>G ENSP00000369424.4:p.Asn131Ser
ENST00000380087.6:c.260A>G ENSP00000369427.2:p.Asn87Ser
ENST00000404022.5:c.260A>G ENSP00000386068.1:p.Asn87Ser
ENST00000416035.1:c.20A>G ENSP00000392714.1:p.Asn7Ser
ENST00000468092.1:c.158A>G ENSP00000417791.1:p.Asn53Ser
NM_001198719.1:c.392A>G NP_001185648.1:p.Asn131Ser
NM_002893.3:c.260A>G NP_002884.1:p.Asn87Ser
XM_011545553.1:c.392A>G XP_011543855.1:p.Asn131Ser
XM_011545554.1:c.260A>G XP_011543856.1:p.Asn87Ser
NM_001198719.2:c.392A>G NP_001185648.1:p.Asn131Ser
NM_002893.4:c.260A>G MANE Select NP_002884.1:p.Asn87Ser
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