Canonical Allele Identifier: CA401777173

Gene: RBBP8

Linked Data

• dbSNP Id: rs1440071277
• gnomAD v2: 18-20573079-C-T
• MyVariant Identifiers: chr18:g.20573079C>T (hg19) ; chr18:g.22993116C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.22993116C>T , CM000680.2:g.22993116C>T	GRCh38
NC_000018.9:g.20573079C>T , CM000680.1:g.20573079C>T	GRCh37
NC_000018.8:g.18827077C>T	NCBI36
NG_012121.1:g.64785C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327155.10:c.1289C>T MANE Select	ENSP00000323050.5:p.Thr430Ile
ENST00000327155.9:c.1289C>T	ENSP00000323050.5:p.Thr430Ile
ENST00000360790.9:c.1289C>T	ENSP00000354024.5:p.Thr430Ile
ENST00000399721.6:c.1289C>T	ENSP00000382627.2:p.Thr430Ile
ENST00000399722.6:c.1289C>T	ENSP00000382628.2:p.Thr430Ile
ENST00000399725.6:c.1289C>T	ENSP00000382630.2:p.Thr430Ile
NM_002894.2:c.1289C>T	NP_002885.1:p.Thr430Ile
NM_203291.1:c.1289C>T	NP_976036.1:p.Thr430Ile
NM_203292.1:c.1289C>T	NP_976037.1:p.Thr430Ile
XM_005258325.1:c.1289C>T	XP_005258382.1:p.Thr430Ile
XM_005258326.2:c.467C>T	XP_005258383.1:p.Thr156Ile
XM_006722519.1:c.1289C>T	XP_006722582.1:p.Thr430Ile
XM_006722520.1:c.1289C>T	XP_006722583.1:p.Thr430Ile
XM_006722521.1:c.1289C>T	XP_006722584.1:p.Thr430Ile
XM_011526132.1:c.1289C>T	XP_011524434.1:p.Thr430Ile
XM_005258325.3:c.1289C>T	XP_005258382.1:p.Thr430Ile
XM_005258326.4:c.467C>T	XP_005258383.1:p.Thr156Ile
XM_006722519.2:c.1289C>T	XP_006722582.1:p.Thr430Ile
XM_006722520.2:c.1289C>T	XP_006722583.1:p.Thr430Ile
XM_006722521.2:c.1289C>T	XP_006722584.1:p.Thr430Ile
XM_011526132.2:c.1289C>T	XP_011524434.1:p.Thr430Ile
XM_017025916.1:c.467C>T	XP_016881405.1:p.Thr156Ile
XM_024451233.1:c.995C>T	XP_024307001.1:p.Thr332Ile
NM_002894.3:c.1289C>T MANE Select	NP_002885.1:p.Thr430Ile
NM_203291.2:c.1289C>T	NP_976036.1:p.Thr430Ile
NM_203292.2:c.1289C>T	NP_976037.1:p.Thr430Ile