Canonical Allele Identifier: CA7967425
Gene: RBBP6 HGNC NCBI
COSMIC:
COSM3999805 (not active)
MyVariant.info:
GRCh38 chr16:g.24567137T>C
GRCh37 chr16:g.24578458T>C
gnomAD v2:
16:24578458 T / C
gnomAD v3:
16:24567137 T / C
gnomAD v4:
chr16-24567137-T-C
Joint Max Group AF 0.83648879 (AFR)
Genomes Max Group AF 0.82906213 (AFR)
Exomes Max Group AF 0.84065429 (AFR)
dbSNP:
7195386
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.24567137T>C , CM000678.2:g.24567137T>C GRCh38
NC_000016.9:g.24578458T>C , CM000678.1:g.24578458T>C GRCh37
NC_000016.8:g.24485959T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000319715.10:c.1590-6T>C MANE Select ENSP00000317872.4:n.1590-6T>C
ENST00000646282.1:c.1704-6T>C ENSP00000496720.1:n.1704-6T>C
ENST00000319715.8:c.1590-6T>C ENSP00000317872.4:n.1590-6T>C
ENST00000348022.6:c.1590-6T>C ENSP00000316291.4:n.1590-6T>C
ENST00000381039.7:c.1290-3739T>C ENSP00000370427.3:n.1290-3739T>C
ENST00000562430.5:n.2380-6T>C
ENST00000564314.5:c.1191-6T>C ENSP00000456750.1:n.1191-6T>C
ENST00000570185.1:n.278-6T>C
NM_006910.4:c.1590-6T>C NP_008841.2:n.1590-6T>C
NM_018703.3:c.1590-6T>C NP_061173.1:n.1590-6T>C
XM_005255461.2:c.1704-6T>C XP_005255518.1:n.1704-6T>C
XM_005255462.2:c.1704-6T>C XP_005255519.1:n.1704-6T>C
NM_006910.5:c.1590-6T>C MANE Select NP_008841.2:n.1590-6T>C
NM_018703.4:c.1590-6T>C NP_061173.1:n.1590-6T>C
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