Canonical Allele Identifier: CA394559285

Gene: CREBBP

Linked Data

• dbSNP Id: rs1178134399
• gnomAD v4: 16-3850348-T-G
• MyVariant Identifiers: chr16:g.3900349T>G (hg19) ; chr16:g.3850348T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850348T>G , CM000678.2:g.3850348T>G	GRCh38
NC_000016.9:g.3900349T>G , CM000678.1:g.3900349T>G	GRCh37
NC_000016.8:g.3840350T>G	NCBI36
NG_009873.1:g.34773A>C
NG_009873.2:g.35366A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.747A>C MANE Select	ENSP00000262367.5:p.Gln249His
ENST00000262367.9:c.747A>C	ENSP00000262367.5:p.Gln249His
ENST00000382070.7:c.747A>C	ENSP00000371502.3:p.Gln249His
NM_001079846.1:c.747A>C	NP_001073315.1:p.Gln249His
NM_004380.2:c.747A>C	NP_004371.2:p.Gln249His
XM_005255124.3:c.747A>C	XP_005255181.1:p.Gln249His
XM_005255125.3:c.747A>C	XP_005255182.1:p.Gln249His
XM_006720848.2:c.747A>C	XP_006720911.1:p.Gln249His
XM_011522380.1:c.693A>C	XP_011520682.1:p.Gln231His
XM_011522382.1:c.747A>C	XP_011520684.1:p.Gln249His
XM_005255124.4:c.747A>C	XP_005255181.1:p.Gln249His
XM_005255125.4:c.747A>C	XP_005255182.1:p.Gln249His
XM_006720848.3:c.747A>C	XP_006720911.1:p.Gln249His
XM_011522382.3:c.747A>C	XP_011520684.1:p.Gln249His
XM_017022944.1:c.747A>C	XP_016878433.1:p.Gln249His
NM_004380.3:c.747A>C MANE Select	NP_004371.2:p.Gln249His