Canonical Allele Identifier: CA271362
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 158338
dbSNP Id: rs587783464

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3792041G>A , CM000678.2:g.3792041G>A GRCh38
NC_000016.9:g.3842042G>A , CM000678.1:g.3842042G>A GRCh37
NC_000016.8:g.3782043G>A NCBI36
NG_009873.1:g.93080C>T
NG_009873.2:g.93673C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.1270C>T MANE Select ENSP00000262367.5:p.Arg424Ter
ENST00000262367.9:c.1270C>T ENSP00000262367.5:p.Arg424Ter
ENST00000382070.7:c.1216+1345C>T ENSP00000371502.3:n.1216+1345C>T
NM_001079846.1:c.1216+1345C>T NP_001073315.1:n.1216+1345C>T
NM_004380.2:c.1270C>T NP_004371.2:p.Arg424Ter
XM_005255124.3:c.1270C>T XP_005255181.1:p.Arg424Ter
XM_005255125.3:c.1270C>T XP_005255182.1:p.Arg424Ter
XM_006720848.2:c.1270C>T XP_006720911.1:p.Arg424Ter
XM_011522380.1:c.1216C>T XP_011520682.1:p.Arg406Ter
XM_011522381.1:c.517C>T XP_011520683.1:p.Arg173Ter
XM_011522382.1:c.1270C>T XP_011520684.1:p.Arg424Ter
XM_005255124.4:c.1270C>T XP_005255181.1:p.Arg424Ter
XM_005255125.4:c.1270C>T XP_005255182.1:p.Arg424Ter
XM_006720848.3:c.1270C>T XP_006720911.1:p.Arg424Ter
XM_011522381.2:c.517C>T XP_011520683.1:p.Arg173Ter
XM_011522382.3:c.1270C>T XP_011520684.1:p.Arg424Ter
XM_017022944.1:c.1270C>T XP_016878433.1:p.Arg424Ter
NM_004380.3:c.1270C>T MANE Select NP_004371.2:p.Arg424Ter