Canonical Allele Identifier: CA7870228

Gene: CREBBP

Linked Data

• dbSNP Id: rs749983244
• ExAC: 16:3827563 T / G
• gnomAD v2: 16-3827563-T-G
• gnomAD v3: 16-3777562-T-G
• gnomAD v4: 16-3777562-T-G
• MyVariant Identifiers: chr16:g.3827563T>G (hg19) ; chr16:g.3777562T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777562T>G , CM000678.2:g.3777562T>G	GRCh38
NC_000016.9:g.3827563T>G , CM000678.1:g.3827563T>G	GRCh37
NC_000016.8:g.3767564T>G	NCBI36
NG_009873.1:g.107559A>C
NG_009873.2:g.108152A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2158+51A>C MANE Select	ENSP00000262367.5:n.2158+51A>C
ENST00000262367.9:c.2158+51A>C	ENSP00000262367.5:n.2158+51A>C
ENST00000382070.7:c.2044+51A>C	ENSP00000371502.3:n.2044+51A>C
ENST00000570939.2:c.763+51A>C	ENSP00000461002.2:n.763+51A>C
ENST00000571826.5:c.207+51A>C
ENST00000572134.1:c.426+449A>C
NM_001079846.1:c.2044+51A>C	NP_001073315.1:n.2044+51A>C
NM_004380.2:c.2158+51A>C	NP_004371.2:n.2158+51A>C
XM_005255124.3:c.2113+449A>C	XP_005255181.1:n.2113+449A>C
XM_005255125.3:c.2158+51A>C	XP_005255182.1:n.2158+51A>C
XM_006720848.2:c.2158+51A>C	XP_006720911.1:n.2158+51A>C
XM_011522380.1:c.2104+51A>C	XP_011520682.1:n.2104+51A>C
XM_011522381.1:c.1405+51A>C	XP_011520683.1:n.1405+51A>C
XM_011522382.1:c.2158+51A>C	XP_011520684.1:n.2158+51A>C
XM_005255124.4:c.2113+449A>C	XP_005255181.1:n.2113+449A>C
XM_005255125.4:c.2158+51A>C	XP_005255182.1:n.2158+51A>C
XM_006720848.3:c.2158+51A>C	XP_006720911.1:n.2158+51A>C
XM_011522381.2:c.1405+51A>C	XP_011520683.1:n.1405+51A>C
XM_011522382.3:c.2158+51A>C	XP_011520684.1:n.2158+51A>C
XM_017022944.1:c.2158+51A>C	XP_016878433.1:n.2158+51A>C
NM_004380.3:c.2158+51A>C MANE Select	NP_004371.2:n.2158+51A>C