Canonical Allele Identifier: CA579378
Gene: RBP7 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.9997295A>G
GRCh37 chr1:g.10057353A>G
Revel Score:
ENST00000294435 (MANE Select) 0.175
gnomAD v2:
1:10057353 A / G
gnomAD v3:
1:9997295 A / G
gnomAD v4:
chr1-9997295-A-G
Joint Max Group AF 0.00007519 (SAS)
Genomes Max Group AF 0.0002836 (SAS)
Exomes Max Group AF 0.00004586 (SAS)
ClinVar RCV:
RCV004091832
ClinVar Variation:
2231330
dbSNP:
754851993
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9997295A>G , CM000663.2:g.9997295A>G GRCh38
NC_000001.10:g.10057353A>G , CM000663.1:g.10057353A>G GRCh37
NC_000001.9:g.9979940A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000294435.8:c.37A>G MANE Select ENSP00000294435.7:p.Ser13Gly
ENST00000294435.7:c.37A>G ENSP00000294435.7:p.Ser13Gly
ENST00000315901.4:c.37A>G ENSP00000324228.4:p.Ser13Gly
NM_052960.2:c.37A>G NP_443192.1:p.Ser13Gly
XM_011542505.1:c.349+387T>C XP_011540807.1:n.349+387T>C
NR_138250.1:n.99A>G
NM_052960.3:c.37A>G MANE Select NP_443192.1:p.Ser13Gly
NR_138250.2:n.68A>G
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