Canonical Allele Identifier: CA394563416

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329257
• gnomAD v4: 16-3736678-A-G
• MyVariant Identifiers: chr16:g.3786679A>G (hg19) ; chr16:g.3736678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736678A>G , CM000678.2:g.3736678A>G	GRCh38
NC_000016.9:g.3786679A>G , CM000678.1:g.3786679A>G	GRCh37
NC_000016.8:g.3726680A>G	NCBI36
NG_009873.1:g.148443T>C
NG_009873.2:g.149036T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4532T>C MANE Select	ENSP00000262367.5:p.Phe1511Ser
ENST00000262367.9:c.4532T>C	ENSP00000262367.5:p.Phe1511Ser
ENST00000382070.7:c.4418T>C	ENSP00000371502.3:p.Phe1473Ser
ENST00000570939.2:c.3167T>C	ENSP00000461002.2:p.Phe1056Ser
ENST00000571763.5:n.322T>C
ENST00000574740.1:n.353T>C
ENST00000576720.1:n.3355T>C
NM_001079846.1:c.4418T>C	NP_001073315.1:p.Phe1473Ser
NM_004380.2:c.4532T>C	NP_004371.2:p.Phe1511Ser
XM_005255124.3:c.4487T>C	XP_005255181.1:p.Phe1496Ser
XM_005255125.3:c.4115T>C	XP_005255182.1:p.Phe1372Ser
XM_006720848.2:c.4271T>C	XP_006720911.1:p.Phe1424Ser
XM_011522380.1:c.4478T>C	XP_011520682.1:p.Phe1493Ser
XM_011522381.1:c.3779T>C	XP_011520683.1:p.Phe1260Ser
XM_005255124.4:c.4487T>C	XP_005255181.1:p.Phe1496Ser
XM_005255125.4:c.4115T>C	XP_005255182.1:p.Phe1372Ser
XM_006720848.3:c.4271T>C	XP_006720911.1:p.Phe1424Ser
XM_011522381.2:c.3779T>C	XP_011520683.1:p.Phe1260Ser
XM_017022944.1:c.4526T>C	XP_016878433.1:p.Phe1509Ser
NM_004380.3:c.4532T>C MANE Select	NP_004371.2:p.Phe1511Ser