Canonical Allele Identifier: CA720725739

Gene: CREBBP

Linked Data

• dbSNP Id: rs1253038618
• gnomAD v3: 16-3736922-C-G
• gnomAD v4: 16-3736922-C-G
• MyVariant Identifiers: chr16:g.3786923C>G (hg19) ; chr16:g.3736922C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736922C>G , CM000678.2:g.3736922C>G	GRCh38
NC_000016.9:g.3786923C>G , CM000678.1:g.3786923C>G	GRCh37
NC_000016.8:g.3726924C>G	NCBI36
NG_009873.1:g.148199G>C
NG_009873.2:g.148792G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4395-107G>C MANE Select	ENSP00000262367.5:n.4395-107G>C
ENST00000262367.9:c.4395-107G>C	ENSP00000262367.5:n.4395-107G>C
ENST00000382070.7:c.4281-107G>C	ENSP00000371502.3:n.4281-107G>C
ENST00000570939.2:c.3030-107G>C	ENSP00000461002.2:n.3030-107G>C
ENST00000571763.5:n.78G>C
ENST00000574740.1:n.216-107G>C
ENST00000576720.1:n.3218-107G>C
NM_001079846.1:c.4281-107G>C	NP_001073315.1:n.4281-107G>C
NM_004380.2:c.4395-107G>C	NP_004371.2:n.4395-107G>C
XM_005255124.3:c.4350-107G>C	XP_005255181.1:n.4350-107G>C
XM_005255125.3:c.3978-107G>C	XP_005255182.1:n.3978-107G>C
XM_006720848.2:c.4134-107G>C	XP_006720911.1:n.4134-107G>C
XM_011522380.1:c.4341-107G>C	XP_011520682.1:n.4341-107G>C
XM_011522381.1:c.3642-107G>C	XP_011520683.1:n.3642-107G>C
XM_005255124.4:c.4350-107G>C	XP_005255181.1:n.4350-107G>C
XM_005255125.4:c.3978-107G>C	XP_005255182.1:n.3978-107G>C
XM_006720848.3:c.4134-107G>C	XP_006720911.1:n.4134-107G>C
XM_011522381.2:c.3642-107G>C	XP_011520683.1:n.3642-107G>C
XM_017022944.1:c.4389-107G>C	XP_016878433.1:n.4389-107G>C
NM_004380.3:c.4395-107G>C MANE Select	NP_004371.2:n.4395-107G>C