Canonical Allele Identifier: CA8910384
Gene: RBBP8 HGNC NCBI

Linked Data

ClinVar Variation Id: 326234
dbSNP Id: rs140196819

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23022190G>A , CM000680.2:g.23022190G>A GRCh38
NC_000018.9:g.20602153G>A , CM000680.1:g.20602153G>A GRCh37
NC_000018.8:g.18856151G>A NCBI36
NG_012121.1:g.93859G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327155.10:c.2516G>A MANE Select ENSP00000323050.5:p.Arg839Gln
ENST00000327155.9:c.2516G>A ENSP00000323050.5:p.Arg839Gln
ENST00000360790.9:c.2531G>A ENSP00000354024.5:p.Arg844Gln
ENST00000399722.6:c.2516G>A ENSP00000382628.2:p.Arg839Gln
ENST00000399725.6:c.2419G>A ENSP00000382630.2:p.Asp807Asn
ENST00000581687.1:c.50G>A ENSP00000463544.1:p.Arg17Gln
ENST00000583057.1:c.790G>A ENSP00000464691.1:p.Asp264Asn
NM_002894.2:c.2516G>A NP_002885.1:p.Arg839Gln
NM_203291.1:c.2516G>A NP_976036.1:p.Arg839Gln
NM_203292.1:c.2419G>A NP_976037.1:p.Asp807Asn
XM_005258325.1:c.2446G>A XP_005258382.1:p.Asp816Asn
XM_005258326.2:c.1694G>A XP_005258383.1:p.Arg565Gln
XM_006722519.1:c.2516G>A XP_006722582.1:p.Arg839Gln
XM_006722520.1:c.2516G>A XP_006722583.1:p.Arg839Gln
XM_006722521.1:c.2516G>A XP_006722584.1:p.Arg839Gln
XM_011526132.1:c.2516G>A XP_011524434.1:p.Arg839Gln
XM_005258325.3:c.2446G>A XP_005258382.1:p.Asp816Asn
XM_005258326.4:c.1694G>A XP_005258383.1:p.Arg565Gln
XM_006722519.2:c.2516G>A XP_006722582.1:p.Arg839Gln
XM_006722520.2:c.2516G>A XP_006722583.1:p.Arg839Gln
XM_006722521.2:c.2516G>A XP_006722584.1:p.Arg839Gln
XM_011526132.2:c.2516G>A XP_011524434.1:p.Arg839Gln
XM_017025916.1:c.1624G>A XP_016881405.1:p.Asp542Asn
XM_024451233.1:c.2222G>A XP_024307001.1:p.Arg741Gln
NM_002894.3:c.2516G>A MANE Select NP_002885.1:p.Arg839Gln
NM_203291.2:c.2516G>A NP_976036.1:p.Arg839Gln
NM_203292.2:c.2419G>A NP_976037.1:p.Asp807Asn