Canonical Allele Identifier: CA15927862

Gene: RBBP8

Linked Data

• dbSNP Id: rs4474794
• gnomAD v2: 18-20566973-C-A
• gnomAD v3: 18-22987010-C-A
• gnomAD v4: 18-22987010-C-A
• MyVariant Identifiers: chr18:g.20566973C>A (hg19) ; chr18:g.22987010C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.22987010C>A , CM000680.2:g.22987010C>A	GRCh38
NC_000018.9:g.20566973C>A , CM000680.1:g.20566973C>A	GRCh37
NC_000018.8:g.18820971C>A	NCBI36
NG_012121.1:g.58679C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327155.10:c.709+2020C>A MANE Select	ENSP00000323050.5:n.709+2020C>A
ENST00000327155.9:c.709+2020C>A	ENSP00000323050.5:n.709+2020C>A
ENST00000360790.9:c.709+2020C>A	ENSP00000354024.5:n.709+2020C>A
ENST00000399721.6:c.709+2020C>A	ENSP00000382627.2:n.709+2020C>A
ENST00000399722.6:c.709+2020C>A	ENSP00000382628.2:n.709+2020C>A
ENST00000399725.6:c.709+2020C>A	ENSP00000382630.2:n.709+2020C>A
ENST00000577445.1:c.425+2020C>A
ENST00000585177.1:c.418+2020C>A
NM_002894.2:c.709+2020C>A	NP_002885.1:n.709+2020C>A
NM_203291.1:c.709+2020C>A	NP_976036.1:n.709+2020C>A
NM_203292.1:c.709+2020C>A	NP_976037.1:n.709+2020C>A
XM_005258325.1:c.709+2020C>A	XP_005258382.1:n.709+2020C>A
XM_005258326.2:c.-114+1926C>A	XP_005258383.1:n.-114+1926C>A
XM_006722519.1:c.709+2020C>A	XP_006722582.1:n.709+2020C>A
XM_006722520.1:c.709+2020C>A	XP_006722583.1:n.709+2020C>A
XM_006722521.1:c.709+2020C>A	XP_006722584.1:n.709+2020C>A
XM_011526132.1:c.709+2020C>A	XP_011524434.1:n.709+2020C>A
XM_005258325.3:c.709+2020C>A	XP_005258382.1:n.709+2020C>A
XM_005258326.4:c.-114+1926C>A	XP_005258383.1:n.-114+1926C>A
XM_006722519.2:c.709+2020C>A	XP_006722582.1:n.709+2020C>A
XM_006722520.2:c.709+2020C>A	XP_006722583.1:n.709+2020C>A
XM_006722521.2:c.709+2020C>A	XP_006722584.1:n.709+2020C>A
XM_011526132.2:c.709+2020C>A	XP_011524434.1:n.709+2020C>A
XM_017025916.1:c.-114+1926C>A	XP_016881405.1:n.-114+1926C>A
XM_024451233.1:c.415+2020C>A	XP_024307001.1:n.415+2020C>A
NM_002894.3:c.709+2020C>A MANE Select	NP_002885.1:n.709+2020C>A
NM_203291.2:c.709+2020C>A	NP_976036.1:n.709+2020C>A
NM_203292.2:c.709+2020C>A	NP_976037.1:n.709+2020C>A