Canonical Allele Identifier: CA7869148
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs747417208
gnomAD v2: 16-3778752-G-C
gnomAD v4: 16-3728751-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728751G>C , CM000678.2:g.3728751G>C GRCh38
NC_000016.9:g.3778752G>C , CM000678.1:g.3778752G>C GRCh37
NC_000016.8:g.3718753G>C NCBI36
NG_009873.1:g.156370C>G
NG_009873.2:g.156963C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6296C>G MANE Select ENSP00000262367.5:p.Ala2099Gly
ENST00000262367.9:c.6296C>G ENSP00000262367.5:p.Ala2099Gly
ENST00000382070.7:c.6182C>G ENSP00000371502.3:p.Ala2061Gly
NM_001079846.1:c.6182C>G NP_001073315.1:p.Ala2061Gly
NM_004380.2:c.6296C>G NP_004371.2:p.Ala2099Gly
XM_005255124.3:c.6251C>G XP_005255181.1:p.Ala2084Gly
XM_005255125.3:c.5879C>G XP_005255182.1:p.Ala1960Gly
XM_006720848.2:c.6035C>G XP_006720911.1:p.Ala2012Gly
XM_011522380.1:c.6242C>G XP_011520682.1:p.Ala2081Gly
XM_011522381.1:c.5543C>G XP_011520683.1:p.Ala1848Gly
XM_005255124.4:c.6251C>G XP_005255181.1:p.Ala2084Gly
XM_005255125.4:c.5879C>G XP_005255182.1:p.Ala1960Gly
XM_006720848.3:c.6035C>G XP_006720911.1:p.Ala2012Gly
XM_011522381.2:c.5543C>G XP_011520683.1:p.Ala1848Gly
XM_017022944.1:c.6290C>G XP_016878433.1:p.Ala2097Gly
NM_004380.3:c.6296C>G MANE Select NP_004371.2:p.Ala2099Gly