Canonical Allele Identifier: CA8909803

Gene: RBBP8

Linked Data

• ClinVar Variation Id: 509584
• ClinVar RCV Id: RCV000942364
• dbSNP Id: rs750729123
• ExAC: 18:20555109 T / C
• gnomAD v2: 18-20555109-T-C
• gnomAD v3: 18-22975146-T-C
• gnomAD v4: 18-22975146-T-C
• MyVariant Identifiers: chr18:g.20555109T>C (hg19) ; chr18:g.22975146T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.22975146T>C , CM000680.2:g.22975146T>C	GRCh38
NC_000018.9:g.20555109T>C , CM000680.1:g.20555109T>C	GRCh37
NC_000018.8:g.18809107T>C	NCBI36
NG_012121.1:g.46815T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327155.10:c.362-7T>C MANE Select	ENSP00000323050.5:n.362-7T>C
ENST00000327155.9:c.362-7T>C	ENSP00000323050.5:n.362-7T>C
ENST00000360790.9:c.362-7T>C	ENSP00000354024.5:n.362-7T>C
ENST00000399721.6:c.362-7T>C	ENSP00000382627.2:n.362-7T>C
ENST00000399722.6:c.362-7T>C	ENSP00000382628.2:n.362-7T>C
ENST00000399725.6:c.362-7T>C	ENSP00000382630.2:n.362-7T>C
ENST00000577445.1:c.78-7T>C
ENST00000582354.5:c.362-7T>C	ENSP00000463738.1:n.362-7T>C
NM_002894.2:c.362-7T>C	NP_002885.1:n.362-7T>C
NM_203291.1:c.362-7T>C	NP_976036.1:n.362-7T>C
NM_203292.1:c.362-7T>C	NP_976037.1:n.362-7T>C
XM_005258325.1:c.362-7T>C	XP_005258382.1:n.362-7T>C
XM_006722519.1:c.362-7T>C	XP_006722582.1:n.362-7T>C
XM_006722520.1:c.362-7T>C	XP_006722583.1:n.362-7T>C
XM_006722521.1:c.362-7T>C	XP_006722584.1:n.362-7T>C
XM_011526132.1:c.362-7T>C	XP_011524434.1:n.362-7T>C
XM_005258325.3:c.362-7T>C	XP_005258382.1:n.362-7T>C
XM_005258326.4:c.-555-7T>C	XP_005258383.1:n.-555-7T>C
XM_006722519.2:c.362-7T>C	XP_006722582.1:n.362-7T>C
XM_006722520.2:c.362-7T>C	XP_006722583.1:n.362-7T>C
XM_006722521.2:c.362-7T>C	XP_006722584.1:n.362-7T>C
XM_011526132.2:c.362-7T>C	XP_011524434.1:n.362-7T>C
XM_017025916.1:c.-555-7T>C	XP_016881405.1:n.-555-7T>C
XM_024451233.1:c.68-7T>C	XP_024307001.1:n.68-7T>C
NM_002894.3:c.362-7T>C MANE Select	NP_002885.1:n.362-7T>C
NM_203291.2:c.362-7T>C	NP_976036.1:n.362-7T>C
NM_203292.2:c.362-7T>C	NP_976037.1:n.362-7T>C