Canonical Allele Identifier: CA720709850
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs1355413093

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3777400T>C , CM000678.2:g.3777400T>C GRCh38
NC_000016.9:g.3827401T>C , CM000678.1:g.3827401T>C GRCh37
NC_000016.8:g.3767402T>C NCBI36
NG_009873.1:g.107721A>G
NG_009873.2:g.108314A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.2158+213A>G MANE Select ENSP00000262367.5:n.2158+213A>G
ENST00000262367.9:c.2158+213A>G ENSP00000262367.5:n.2158+213A>G
ENST00000382070.7:c.2044+213A>G ENSP00000371502.3:n.2044+213A>G
ENST00000570939.2:c.763+213A>G ENSP00000461002.2:n.763+213A>G
ENST00000571826.5:c.207+213A>G
ENST00000572134.1:c.426+611A>G
NM_001079846.1:c.2044+213A>G NP_001073315.1:n.2044+213A>G
NM_004380.2:c.2158+213A>G NP_004371.2:n.2158+213A>G
XM_005255124.3:c.2113+611A>G XP_005255181.1:n.2113+611A>G
XM_005255125.3:c.2158+213A>G XP_005255182.1:n.2158+213A>G
XM_006720848.2:c.2158+213A>G XP_006720911.1:n.2158+213A>G
XM_011522380.1:c.2104+213A>G XP_011520682.1:n.2104+213A>G
XM_011522381.1:c.1405+213A>G XP_011520683.1:n.1405+213A>G
XM_011522382.1:c.2158+213A>G XP_011520684.1:n.2158+213A>G
XM_005255124.4:c.2113+611A>G XP_005255181.1:n.2113+611A>G
XM_005255125.4:c.2158+213A>G XP_005255182.1:n.2158+213A>G
XM_006720848.3:c.2158+213A>G XP_006720911.1:n.2158+213A>G
XM_011522381.2:c.1405+213A>G XP_011520683.1:n.1405+213A>G
XM_011522382.3:c.2158+213A>G XP_011520684.1:n.2158+213A>G
XM_017022944.1:c.2158+213A>G XP_016878433.1:n.2158+213A>G
NM_004380.3:c.2158+213A>G MANE Select NP_004371.2:n.2158+213A>G