Canonical Allele Identifier: CA620462748

Gene: CREBBP

Linked Data

• dbSNP Id: rs1163798567
• gnomAD v2: 16-3786841-A-C
• gnomAD v4: 16-3736840-A-C
• MyVariant Identifiers: chr16:g.3786841A>C (hg19) ; chr16:g.3736840A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736840A>C , CM000678.2:g.3736840A>C	GRCh38
NC_000016.9:g.3786841A>C , CM000678.1:g.3786841A>C	GRCh37
NC_000016.8:g.3726842A>C	NCBI36
NG_009873.1:g.148281T>G
NG_009873.2:g.148874T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4395-25T>G MANE Select	ENSP00000262367.5:n.4395-25T>G
ENST00000262367.9:c.4395-25T>G	ENSP00000262367.5:n.4395-25T>G
ENST00000382070.7:c.4281-25T>G	ENSP00000371502.3:n.4281-25T>G
ENST00000570939.2:c.3030-25T>G	ENSP00000461002.2:n.3030-25T>G
ENST00000571763.5:n.160T>G
ENST00000574740.1:n.216-25T>G
ENST00000576720.1:n.3218-25T>G
NM_001079846.1:c.4281-25T>G	NP_001073315.1:n.4281-25T>G
NM_004380.2:c.4395-25T>G	NP_004371.2:n.4395-25T>G
XM_005255124.3:c.4350-25T>G	XP_005255181.1:n.4350-25T>G
XM_005255125.3:c.3978-25T>G	XP_005255182.1:n.3978-25T>G
XM_006720848.2:c.4134-25T>G	XP_006720911.1:n.4134-25T>G
XM_011522380.1:c.4341-25T>G	XP_011520682.1:n.4341-25T>G
XM_011522381.1:c.3642-25T>G	XP_011520683.1:n.3642-25T>G
XM_005255124.4:c.4350-25T>G	XP_005255181.1:n.4350-25T>G
XM_005255125.4:c.3978-25T>G	XP_005255182.1:n.3978-25T>G
XM_006720848.3:c.4134-25T>G	XP_006720911.1:n.4134-25T>G
XM_011522381.2:c.3642-25T>G	XP_011520683.1:n.3642-25T>G
XM_017022944.1:c.4389-25T>G	XP_016878433.1:n.4389-25T>G
NM_004380.3:c.4395-25T>G MANE Select	NP_004371.2:n.4395-25T>G