Canonical Allele Identifier: CA503521021
Gene: RBBP8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.20573071T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.22993108T>C , CM000680.2:g.22993108T>C GRCh38
NC_000018.9:g.20573071T>C , CM000680.1:g.20573071T>C GRCh37
NC_000018.8:g.18827069T>C NCBI36
NG_012121.1:g.64777T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327155.10:c.1281T>C MANE Select ENSP00000323050.5:p.Asp427=
ENST00000327155.9:c.1281T>C ENSP00000323050.5:p.Asp427=
ENST00000360790.9:c.1281T>C ENSP00000354024.5:p.Asp427=
ENST00000399721.6:c.1281T>C ENSP00000382627.2:p.Asp427=
ENST00000399722.6:c.1281T>C ENSP00000382628.2:p.Asp427=
ENST00000399725.6:c.1281T>C ENSP00000382630.2:p.Asp427=
NM_002894.2:c.1281T>C NP_002885.1:p.Asp427=
NM_203291.1:c.1281T>C NP_976036.1:p.Asp427=
NM_203292.1:c.1281T>C NP_976037.1:p.Asp427=
XM_005258325.1:c.1281T>C XP_005258382.1:p.Asp427=
XM_005258326.2:c.459T>C XP_005258383.1:p.Asp153=
XM_006722519.1:c.1281T>C XP_006722582.1:p.Asp427=
XM_006722520.1:c.1281T>C XP_006722583.1:p.Asp427=
XM_006722521.1:c.1281T>C XP_006722584.1:p.Asp427=
XM_011526132.1:c.1281T>C XP_011524434.1:p.Asp427=
XM_005258325.3:c.1281T>C XP_005258382.1:p.Asp427=
XM_005258326.4:c.459T>C XP_005258383.1:p.Asp153=
XM_006722519.2:c.1281T>C XP_006722582.1:p.Asp427=
XM_006722520.2:c.1281T>C XP_006722583.1:p.Asp427=
XM_006722521.2:c.1281T>C XP_006722584.1:p.Asp427=
XM_011526132.2:c.1281T>C XP_011524434.1:p.Asp427=
XM_017025916.1:c.459T>C XP_016881405.1:p.Asp153=
XM_024451233.1:c.987T>C XP_024307001.1:p.Asp329=
NM_002894.3:c.1281T>C MANE Select NP_002885.1:p.Asp427=
NM_203291.2:c.1281T>C NP_976036.1:p.Asp427=
NM_203292.2:c.1281T>C NP_976037.1:p.Asp427=