Canonical Allele Identifier: CA297050734

Gene: RBBP8

Linked Data

• dbSNP Id: rs947894101
• gnomAD v2: 18-20572838-C-G
• gnomAD v4: 18-22992875-C-G
• MyVariant Identifiers: chr18:g.20572838C>G (hg19) ; chr18:g.22992875C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.22992875C>G , CM000680.2:g.22992875C>G	GRCh38
NC_000018.9:g.20572838C>G , CM000680.1:g.20572838C>G	GRCh37
NC_000018.8:g.18826836C>G	NCBI36
NG_012121.1:g.64544C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327155.10:c.1048C>G MANE Select	ENSP00000323050.5:p.Leu350Val
ENST00000327155.9:c.1048C>G	ENSP00000323050.5:p.Leu350Val
ENST00000360790.9:c.1048C>G	ENSP00000354024.5:p.Leu350Val
ENST00000399721.6:c.1048C>G	ENSP00000382627.2:p.Leu350Val
ENST00000399722.6:c.1048C>G	ENSP00000382628.2:p.Leu350Val
ENST00000399725.6:c.1048C>G	ENSP00000382630.2:p.Leu350Val
NM_002894.2:c.1048C>G	NP_002885.1:p.Leu350Val
NM_203291.1:c.1048C>G	NP_976036.1:p.Leu350Val
NM_203292.1:c.1048C>G	NP_976037.1:p.Leu350Val
XM_005258325.1:c.1048C>G	XP_005258382.1:p.Leu350Val
XM_005258326.2:c.226C>G	XP_005258383.1:p.Leu76Val
XM_006722519.1:c.1048C>G	XP_006722582.1:p.Leu350Val
XM_006722520.1:c.1048C>G	XP_006722583.1:p.Leu350Val
XM_006722521.1:c.1048C>G	XP_006722584.1:p.Leu350Val
XM_011526132.1:c.1048C>G	XP_011524434.1:p.Leu350Val
XM_005258325.3:c.1048C>G	XP_005258382.1:p.Leu350Val
XM_005258326.4:c.226C>G	XP_005258383.1:p.Leu76Val
XM_006722519.2:c.1048C>G	XP_006722582.1:p.Leu350Val
XM_006722520.2:c.1048C>G	XP_006722583.1:p.Leu350Val
XM_006722521.2:c.1048C>G	XP_006722584.1:p.Leu350Val
XM_011526132.2:c.1048C>G	XP_011524434.1:p.Leu350Val
XM_017025916.1:c.226C>G	XP_016881405.1:p.Leu76Val
XM_024451233.1:c.754C>G	XP_024307001.1:p.Leu252Val
NM_002894.3:c.1048C>G MANE Select	NP_002885.1:p.Leu350Val
NM_203291.2:c.1048C>G	NP_976036.1:p.Leu350Val
NM_203292.2:c.1048C>G	NP_976037.1:p.Leu350Val