Canonical Allele Identifier: CA7868907

Gene: CREBBP

Linked Data

• dbSNP Id: rs751483136
• ExAC: 16:3777703 T / C
• gnomAD v2: 16-3777703-T-C
• gnomAD v4: 16-3727702-T-C
• MyVariant Identifiers: chr16:g.3777703T>C (hg19) ; chr16:g.3727702T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727702T>C , CM000678.2:g.3727702T>C	GRCh38
NC_000016.9:g.3777703T>C , CM000678.1:g.3777703T>C	GRCh37
NC_000016.8:g.3717704T>C	NCBI36
NG_009873.1:g.157419A>G
NG_009873.2:g.158012A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.*16A>G MANE Select	ENSP00000262367.5:n.*16A>G
ENST00000262367.9:c.*16A>G	ENSP00000262367.5:n.*16A>G
ENST00000382070.7:c.*16A>G	ENSP00000371502.3:n.*16A>G
NM_001079846.1:c.*16A>G	NP_001073315.1:n.*16A>G
NM_004380.2:c.*16A>G	NP_004371.2:n.*16A>G
XM_005255124.3:c.*16A>G	XP_005255181.1:n.*16A>G
XM_005255125.3:c.*16A>G	XP_005255182.1:n.*16A>G
XM_006720848.2:c.*16A>G	XP_006720911.1:n.*16A>G
XM_011522380.1:c.*16A>G	XP_011520682.1:n.*16A>G
XM_011522381.1:c.*16A>G	XP_011520683.1:n.*16A>G
XM_005255124.4:c.*16A>G	XP_005255181.1:n.*16A>G
XM_005255125.4:c.*16A>G	XP_005255182.1:n.*16A>G
XM_006720848.3:c.*16A>G	XP_006720911.1:n.*16A>G
XM_011522381.2:c.*16A>G	XP_011520683.1:n.*16A>G
XM_017022944.1:c.*16A>G	XP_016878433.1:n.*16A>G
NM_004380.3:c.*16A>G MANE Select	NP_004371.2:n.*16A>G