Canonical Allele Identifier: CA271410
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3738683G>C , CM000678.2:g.3738683G>C GRCh38
NC_000016.9:g.3788684G>C , CM000678.1:g.3788684G>C GRCh37
NC_000016.8:g.3728685G>C NCBI36
NG_009873.1:g.146438C>G
NG_009873.2:g.147031C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4281-11C>G MANE Select ENSP00000262367.5:n.4281-11C>G
ENST00000262367.9:c.4281-11C>G ENSP00000262367.5:n.4281-11C>G
ENST00000382070.7:c.4167-11C>G ENSP00000371502.3:n.4167-11C>G
ENST00000570939.2:c.2916-11C>G ENSP00000461002.2:n.2916-11C>G
ENST00000574740.1:n.215+1716C>G
ENST00000576720.1:n.3217+895C>G
NM_001079846.1:c.4167-11C>G NP_001073315.1:n.4167-11C>G
NM_004380.2:c.4281-11C>G NP_004371.2:n.4281-11C>G
XM_005255124.3:c.4236-11C>G XP_005255181.1:n.4236-11C>G
XM_005255125.3:c.3864-11C>G XP_005255182.1:n.3864-11C>G
XM_006720848.2:c.4133+1716C>G XP_006720911.1:n.4133+1716C>G
XM_011522380.1:c.4227-11C>G XP_011520682.1:n.4227-11C>G
XM_011522381.1:c.3528-11C>G XP_011520683.1:n.3528-11C>G
XM_005255124.4:c.4236-11C>G XP_005255181.1:n.4236-11C>G
XM_005255125.4:c.3864-11C>G XP_005255182.1:n.3864-11C>G
XM_006720848.3:c.4133+1716C>G XP_006720911.1:n.4133+1716C>G
XM_011522381.2:c.3528-11C>G XP_011520683.1:n.3528-11C>G
XM_017022944.1:c.4275-11C>G XP_016878433.1:n.4275-11C>G
NM_004380.3:c.4281-11C>G MANE Select NP_004371.2:n.4281-11C>G