Canonical Allele Identifier: CA7869826
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3758065T>A , CM000678.2:g.3758065T>A GRCh38
NC_000016.9:g.3808066T>A , CM000678.1:g.3808066T>A GRCh37
NC_000016.8:g.3748067T>A NCBI36
NG_009873.1:g.127056A>T
NG_009873.2:g.127649A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.3370-17A>T MANE Select ENSP00000262367.5:n.3370-17A>T
ENST00000262367.9:c.3370-17A>T ENSP00000262367.5:n.3370-17A>T
ENST00000382070.7:c.3256-17A>T ENSP00000371502.3:n.3256-17A>T
ENST00000570939.2:c.1975-17A>T ENSP00000461002.2:n.1975-17A>T
NM_001079846.1:c.3256-17A>T NP_001073315.1:n.3256-17A>T
NM_004380.2:c.3370-17A>T NP_004371.2:n.3370-17A>T
XM_005255124.3:c.3325-17A>T XP_005255181.1:n.3325-17A>T
XM_005255125.3:c.2953-17A>T XP_005255182.1:n.2953-17A>T
XM_006720848.2:c.3370-17A>T XP_006720911.1:n.3370-17A>T
XM_011522380.1:c.3316-17A>T XP_011520682.1:n.3316-17A>T
XM_011522381.1:c.2617-17A>T XP_011520683.1:n.2617-17A>T
XM_011522382.1:c.3370-17A>T XP_011520684.1:n.3370-17A>T
XM_005255124.4:c.3325-17A>T XP_005255181.1:n.3325-17A>T
XM_005255125.4:c.2953-17A>T XP_005255182.1:n.2953-17A>T
XM_006720848.3:c.3370-17A>T XP_006720911.1:n.3370-17A>T
XM_011522381.2:c.2617-17A>T XP_011520683.1:n.2617-17A>T
XM_011522382.3:c.3370-17A>T XP_011520684.1:n.3370-17A>T
XM_017022944.1:c.3364-17A>T XP_016878433.1:n.3364-17A>T
NM_004380.3:c.3370-17A>T MANE Select NP_004371.2:n.3370-17A>T