Canonical Allele Identifier: CA394554605
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1709029
ClinVar RCV Id: RCV002288313
dbSNP Id: rs2151306711

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3729034G>A , CM000678.2:g.3729034G>A GRCh38
NC_000016.9:g.3779035G>A , CM000678.1:g.3779035G>A GRCh37
NC_000016.8:g.3719036G>A NCBI36
NG_009873.1:g.156087C>T
NG_009873.2:g.156680C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6013C>T MANE Select ENSP00000262367.5:p.Pro2005Ser
ENST00000262367.9:c.6013C>T ENSP00000262367.5:p.Pro2005Ser
ENST00000382070.7:c.5899C>T ENSP00000371502.3:p.Pro1967Ser
NM_001079846.1:c.5899C>T NP_001073315.1:p.Pro1967Ser
NM_004380.2:c.6013C>T NP_004371.2:p.Pro2005Ser
XM_005255124.3:c.5968C>T XP_005255181.1:p.Pro1990Ser
XM_005255125.3:c.5596C>T XP_005255182.1:p.Pro1866Ser
XM_006720848.2:c.5752C>T XP_006720911.1:p.Pro1918Ser
XM_011522380.1:c.5959C>T XP_011520682.1:p.Pro1987Ser
XM_011522381.1:c.5260C>T XP_011520683.1:p.Pro1754Ser
XM_005255124.4:c.5968C>T XP_005255181.1:p.Pro1990Ser
XM_005255125.4:c.5596C>T XP_005255182.1:p.Pro1866Ser
XM_006720848.3:c.5752C>T XP_006720911.1:p.Pro1918Ser
XM_011522381.2:c.5260C>T XP_011520683.1:p.Pro1754Ser
XM_017022944.1:c.6007C>T XP_016878433.1:p.Pro2003Ser
NM_004380.3:c.6013C>T MANE Select NP_004371.2:p.Pro2005Ser