Canonical Allele Identifier: CA276980366

Gene: CREBBP

Linked Data

• dbSNP Id: rs186646400
• gnomAD v3: 16-3736989-C-T
• gnomAD v4: 16-3736989-C-T
• MyVariant Identifiers: chr16:g.3786990C>T (hg19) ; chr16:g.3736989C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736989C>T , CM000678.2:g.3736989C>T	GRCh38
NC_000016.9:g.3786990C>T , CM000678.1:g.3786990C>T	GRCh37
NC_000016.8:g.3726991C>T	NCBI36
NG_009873.1:g.148132G>A
NG_009873.2:g.148725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4395-174G>A MANE Select	ENSP00000262367.5:n.4395-174G>A
ENST00000262367.9:c.4395-174G>A	ENSP00000262367.5:n.4395-174G>A
ENST00000382070.7:c.4281-174G>A	ENSP00000371502.3:n.4281-174G>A
ENST00000570939.2:c.3030-174G>A	ENSP00000461002.2:n.3030-174G>A
ENST00000571763.5:n.11G>A
ENST00000574740.1:n.216-174G>A
ENST00000576720.1:n.3218-174G>A
NM_001079846.1:c.4281-174G>A	NP_001073315.1:n.4281-174G>A
NM_004380.2:c.4395-174G>A	NP_004371.2:n.4395-174G>A
XM_005255124.3:c.4350-174G>A	XP_005255181.1:n.4350-174G>A
XM_005255125.3:c.3978-174G>A	XP_005255182.1:n.3978-174G>A
XM_006720848.2:c.4134-174G>A	XP_006720911.1:n.4134-174G>A
XM_011522380.1:c.4341-174G>A	XP_011520682.1:n.4341-174G>A
XM_011522381.1:c.3642-174G>A	XP_011520683.1:n.3642-174G>A
XM_005255124.4:c.4350-174G>A	XP_005255181.1:n.4350-174G>A
XM_005255125.4:c.3978-174G>A	XP_005255182.1:n.3978-174G>A
XM_006720848.3:c.4134-174G>A	XP_006720911.1:n.4134-174G>A
XM_011522381.2:c.3642-174G>A	XP_011520683.1:n.3642-174G>A
XM_017022944.1:c.4389-174G>A	XP_016878433.1:n.4389-174G>A
NM_004380.3:c.4395-174G>A MANE Select	NP_004371.2:n.4395-174G>A