Canonical Allele Identifier: CA8910026

Gene: RBBP8

Linked Data

• ClinVar Variation Id: 1430734
• ClinVar RCV Id: RCV001931564
• dbSNP Id: rs767858966
• ExAC: 18:20572937 G / A
• gnomAD v2: 18-20572937-G-A
• gnomAD v3: 18-22992974-G-A
• gnomAD v4: 18-22992974-G-A
• MyVariant Identifiers: chr18:g.20572937G>A (hg19) ; chr18:g.22992974G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.22992974G>A , CM000680.2:g.22992974G>A	GRCh38
NC_000018.9:g.20572937G>A , CM000680.1:g.20572937G>A	GRCh37
NC_000018.8:g.18826935G>A	NCBI36
NG_012121.1:g.64643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327155.10:c.1147G>A MANE Select	ENSP00000323050.5:p.Ala383Thr
ENST00000327155.9:c.1147G>A	ENSP00000323050.5:p.Ala383Thr
ENST00000360790.9:c.1147G>A	ENSP00000354024.5:p.Ala383Thr
ENST00000399721.6:c.1147G>A	ENSP00000382627.2:p.Ala383Thr
ENST00000399722.6:c.1147G>A	ENSP00000382628.2:p.Ala383Thr
ENST00000399725.6:c.1147G>A	ENSP00000382630.2:p.Ala383Thr
NM_002894.2:c.1147G>A	NP_002885.1:p.Ala383Thr
NM_203291.1:c.1147G>A	NP_976036.1:p.Ala383Thr
NM_203292.1:c.1147G>A	NP_976037.1:p.Ala383Thr
XM_005258325.1:c.1147G>A	XP_005258382.1:p.Ala383Thr
XM_005258326.2:c.325G>A	XP_005258383.1:p.Ala109Thr
XM_006722519.1:c.1147G>A	XP_006722582.1:p.Ala383Thr
XM_006722520.1:c.1147G>A	XP_006722583.1:p.Ala383Thr
XM_006722521.1:c.1147G>A	XP_006722584.1:p.Ala383Thr
XM_011526132.1:c.1147G>A	XP_011524434.1:p.Ala383Thr
XM_005258325.3:c.1147G>A	XP_005258382.1:p.Ala383Thr
XM_005258326.4:c.325G>A	XP_005258383.1:p.Ala109Thr
XM_006722519.2:c.1147G>A	XP_006722582.1:p.Ala383Thr
XM_006722520.2:c.1147G>A	XP_006722583.1:p.Ala383Thr
XM_006722521.2:c.1147G>A	XP_006722584.1:p.Ala383Thr
XM_011526132.2:c.1147G>A	XP_011524434.1:p.Ala383Thr
XM_017025916.1:c.325G>A	XP_016881405.1:p.Ala109Thr
XM_024451233.1:c.853G>A	XP_024307001.1:p.Ala285Thr
NM_002894.3:c.1147G>A MANE Select	NP_002885.1:p.Ala383Thr
NM_203291.2:c.1147G>A	NP_976036.1:p.Ala383Thr
NM_203292.2:c.1147G>A	NP_976037.1:p.Ala383Thr