Canonical Allele Identifier: CA401775910

Gene: RBBP8

Linked Data

• dbSNP Id: rs1271037098
• gnomAD v2: 18-20572712-T-C
• gnomAD v4: 18-22992749-T-C
• MyVariant Identifiers: chr18:g.20572712T>C (hg19) ; chr18:g.22992749T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.22992749T>C , CM000680.2:g.22992749T>C	GRCh38
NC_000018.9:g.20572712T>C , CM000680.1:g.20572712T>C	GRCh37
NC_000018.8:g.18826710T>C	NCBI36
NG_012121.1:g.64418T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327155.10:c.922T>C MANE Select	ENSP00000323050.5:p.Phe308Leu
ENST00000327155.9:c.922T>C	ENSP00000323050.5:p.Phe308Leu
ENST00000360790.9:c.922T>C	ENSP00000354024.5:p.Phe308Leu
ENST00000399721.6:c.922T>C	ENSP00000382627.2:p.Phe308Leu
ENST00000399722.6:c.922T>C	ENSP00000382628.2:p.Phe308Leu
ENST00000399725.6:c.922T>C	ENSP00000382630.2:p.Phe308Leu
NM_002894.2:c.922T>C	NP_002885.1:p.Phe308Leu
NM_203291.1:c.922T>C	NP_976036.1:p.Phe308Leu
NM_203292.1:c.922T>C	NP_976037.1:p.Phe308Leu
XM_005258325.1:c.922T>C	XP_005258382.1:p.Phe308Leu
XM_005258326.2:c.100T>C	XP_005258383.1:p.Phe34Leu
XM_006722519.1:c.922T>C	XP_006722582.1:p.Phe308Leu
XM_006722520.1:c.922T>C	XP_006722583.1:p.Phe308Leu
XM_006722521.1:c.922T>C	XP_006722584.1:p.Phe308Leu
XM_011526132.1:c.922T>C	XP_011524434.1:p.Phe308Leu
XM_005258325.3:c.922T>C	XP_005258382.1:p.Phe308Leu
XM_005258326.4:c.100T>C	XP_005258383.1:p.Phe34Leu
XM_006722519.2:c.922T>C	XP_006722582.1:p.Phe308Leu
XM_006722520.2:c.922T>C	XP_006722583.1:p.Phe308Leu
XM_006722521.2:c.922T>C	XP_006722584.1:p.Phe308Leu
XM_011526132.2:c.922T>C	XP_011524434.1:p.Phe308Leu
XM_017025916.1:c.100T>C	XP_016881405.1:p.Phe34Leu
XM_024451233.1:c.628T>C	XP_024307001.1:p.Phe210Leu
NM_002894.3:c.922T>C MANE Select	NP_002885.1:p.Phe308Leu
NM_203291.2:c.922T>C	NP_976036.1:p.Phe308Leu
NM_203292.2:c.922T>C	NP_976037.1:p.Phe308Leu