Canonical Allele Identifier: CA2631426595

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3777492-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777492A>C , CM000678.2:g.3777492A>C	GRCh38
NC_000016.9:g.3827493A>C , CM000678.1:g.3827493A>C	GRCh37
NC_000016.8:g.3767494A>C	NCBI36
NG_009873.1:g.107629T>G
NG_009873.2:g.108222T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2158+121T>G MANE Select	ENSP00000262367.5:n.2158+121T>G
ENST00000262367.9:c.2158+121T>G	ENSP00000262367.5:n.2158+121T>G
ENST00000382070.7:c.2044+121T>G	ENSP00000371502.3:n.2044+121T>G
ENST00000570939.2:c.763+121T>G	ENSP00000461002.2:n.763+121T>G
ENST00000571826.5:c.207+121T>G
ENST00000572134.1:c.426+519T>G
NM_001079846.1:c.2044+121T>G	NP_001073315.1:n.2044+121T>G
NM_004380.2:c.2158+121T>G	NP_004371.2:n.2158+121T>G
XM_005255124.3:c.2113+519T>G	XP_005255181.1:n.2113+519T>G
XM_005255125.3:c.2158+121T>G	XP_005255182.1:n.2158+121T>G
XM_006720848.2:c.2158+121T>G	XP_006720911.1:n.2158+121T>G
XM_011522380.1:c.2104+121T>G	XP_011520682.1:n.2104+121T>G
XM_011522381.1:c.1405+121T>G	XP_011520683.1:n.1405+121T>G
XM_011522382.1:c.2158+121T>G	XP_011520684.1:n.2158+121T>G
XM_005255124.4:c.2113+519T>G	XP_005255181.1:n.2113+519T>G
XM_005255125.4:c.2158+121T>G	XP_005255182.1:n.2158+121T>G
XM_006720848.3:c.2158+121T>G	XP_006720911.1:n.2158+121T>G
XM_011522381.2:c.1405+121T>G	XP_011520683.1:n.1405+121T>G
XM_011522382.3:c.2158+121T>G	XP_011520684.1:n.2158+121T>G
XM_017022944.1:c.2158+121T>G	XP_016878433.1:n.2158+121T>G
NM_004380.3:c.2158+121T>G MANE Select	NP_004371.2:n.2158+121T>G