Canonical Allele Identifier: CA7870619

Gene: CREBBP

Linked Data

• dbSNP Id: rs774599450
• ExAC: 16:3900351 G / C
• gnomAD v2: 16-3900351-G-C
• gnomAD v4: 16-3850350-G-C
• MyVariant Identifiers: chr16:g.3900351G>C (hg19) ; chr16:g.3850350G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850350G>C , CM000678.2:g.3850350G>C	GRCh38
NC_000016.9:g.3900351G>C , CM000678.1:g.3900351G>C	GRCh37
NC_000016.8:g.3840352G>C	NCBI36
NG_009873.1:g.34771C>G
NG_009873.2:g.35364C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.745C>G MANE Select	ENSP00000262367.5:p.Gln249Glu
ENST00000262367.9:c.745C>G	ENSP00000262367.5:p.Gln249Glu
ENST00000382070.7:c.745C>G	ENSP00000371502.3:p.Gln249Glu
NM_001079846.1:c.745C>G	NP_001073315.1:p.Gln249Glu
NM_004380.2:c.745C>G	NP_004371.2:p.Gln249Glu
XM_005255124.3:c.745C>G	XP_005255181.1:p.Gln249Glu
XM_005255125.3:c.745C>G	XP_005255182.1:p.Gln249Glu
XM_006720848.2:c.745C>G	XP_006720911.1:p.Gln249Glu
XM_011522380.1:c.691C>G	XP_011520682.1:p.Gln231Glu
XM_011522382.1:c.745C>G	XP_011520684.1:p.Gln249Glu
XM_005255124.4:c.745C>G	XP_005255181.1:p.Gln249Glu
XM_005255125.4:c.745C>G	XP_005255182.1:p.Gln249Glu
XM_006720848.3:c.745C>G	XP_006720911.1:p.Gln249Glu
XM_011522382.3:c.745C>G	XP_011520684.1:p.Gln249Glu
XM_017022944.1:c.745C>G	XP_016878433.1:p.Gln249Glu
NM_004380.3:c.745C>G MANE Select	NP_004371.2:p.Gln249Glu