Canonical Allele Identifier: CA151432
Community Standard Title: NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)
Gene: RBBP8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.22968855C>T , CM000680.2:g.22968855C>T GRCh38
NC_000018.9:g.20548818C>T , CM000680.1:g.20548818C>T GRCh37
NC_000018.8:g.18802816C>T NCBI36
NG_012121.1:g.40524C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002894.3:c.298C>T MANE Select NP_002885.1:p.Arg100Trp
ENST00000327155.10:c.298C>T MANE Select ENSP00000323050.5:p.Arg100Trp
NM_002894.2:c.298C>T NP_002885.1:p.Arg100Trp
NM_203291.1:c.298C>T NP_976036.1:p.Arg100Trp
NM_203291.2:c.298C>T NP_976036.1:p.Arg100Trp
NM_203292.1:c.298C>T NP_976037.1:p.Arg100Trp
NM_203292.2:c.298C>T NP_976037.1:p.Arg100Trp
ENST00000327155.9:c.298C>T ENSP00000323050.5:p.Arg100Trp
ENST00000360790.9:c.298C>T ENSP00000354024.5:p.Arg100Trp
ENST00000399721.6:c.298C>T ENSP00000382627.2:p.Arg100Trp
ENST00000399722.6:c.298C>T ENSP00000382628.2:p.Arg100Trp
ENST00000399725.6:c.298C>T ENSP00000382630.2:p.Arg100Trp
ENST00000577445.1:c.14C>T
ENST00000582354.5:c.298C>T ENSP00000463738.1:p.Arg100Trp
XM_005258325.1:c.298C>T XP_005258382.1:p.Arg100Trp
XM_005258325.3:c.298C>T XP_005258382.1:p.Arg100Trp
XM_005258326.4:c.-619C>T XP_005258383.1:n.-619C>T
XM_006722519.1:c.298C>T XP_006722582.1:p.Arg100Trp
XM_006722519.2:c.298C>T XP_006722582.1:p.Arg100Trp
XM_006722520.1:c.298C>T XP_006722583.1:p.Arg100Trp
XM_006722520.2:c.298C>T XP_006722583.1:p.Arg100Trp
XM_006722521.1:c.298C>T XP_006722584.1:p.Arg100Trp
XM_006722521.2:c.298C>T XP_006722584.1:p.Arg100Trp
XM_011526132.1:c.298C>T XP_011524434.1:p.Arg100Trp
XM_011526132.2:c.298C>T XP_011524434.1:p.Arg100Trp
XM_017025916.1:c.-619C>T XP_016881405.1:n.-619C>T
XM_024451233.1:c.4C>T XP_024307001.1:p.Arg2Trp