Canonical Allele Identifier: CA7870258

Gene: CREBBP

Linked Data

• dbSNP Id: rs771199040
• ExAC: 16:3827670 A / C
• gnomAD v2: 16-3827670-A-C
• gnomAD v4: 16-3777669-A-C
• MyVariant Identifiers: chr16:g.3827670A>C (hg19) ; chr16:g.3777669A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777669A>C , CM000678.2:g.3777669A>C	GRCh38
NC_000016.9:g.3827670A>C , CM000678.1:g.3827670A>C	GRCh37
NC_000016.8:g.3767671A>C	NCBI36
NG_009873.1:g.107452T>G
NG_009873.2:g.108045T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2114-12T>G MANE Select	ENSP00000262367.5:n.2114-12T>G
ENST00000262367.9:c.2114-12T>G	ENSP00000262367.5:n.2114-12T>G
ENST00000382070.7:c.2000-12T>G	ENSP00000371502.3:n.2000-12T>G
ENST00000570939.2:c.719-12T>G	ENSP00000461002.2:n.719-12T>G
ENST00000571826.5:c.163-12T>G
ENST00000572134.1:c.426+342T>G
NM_001079846.1:c.2000-12T>G	NP_001073315.1:n.2000-12T>G
NM_004380.2:c.2114-12T>G	NP_004371.2:n.2114-12T>G
XM_005255124.3:c.2113+342T>G	XP_005255181.1:n.2113+342T>G
XM_005255125.3:c.2114-12T>G	XP_005255182.1:n.2114-12T>G
XM_006720848.2:c.2114-12T>G	XP_006720911.1:n.2114-12T>G
XM_011522380.1:c.2060-12T>G	XP_011520682.1:n.2060-12T>G
XM_011522381.1:c.1361-12T>G	XP_011520683.1:n.1361-12T>G
XM_011522382.1:c.2114-12T>G	XP_011520684.1:n.2114-12T>G
XM_005255124.4:c.2113+342T>G	XP_005255181.1:n.2113+342T>G
XM_005255125.4:c.2114-12T>G	XP_005255182.1:n.2114-12T>G
XM_006720848.3:c.2114-12T>G	XP_006720911.1:n.2114-12T>G
XM_011522381.2:c.1361-12T>G	XP_011520683.1:n.1361-12T>G
XM_011522382.3:c.2114-12T>G	XP_011520684.1:n.2114-12T>G
XM_017022944.1:c.2114-12T>G	XP_016878433.1:n.2114-12T>G
NM_004380.3:c.2114-12T>G MANE Select	NP_004371.2:n.2114-12T>G