Canonical Allele Identifier: CA493393808

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305861
• gnomAD v4: 16-3728903-C-G
• MyVariant Identifiers: chr16:g.3778904C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728903C>G , CM000678.2:g.3728903C>G	GRCh38
NC_000016.9:g.3778904C>G , CM000678.1:g.3778904C>G	GRCh37
NC_000016.8:g.3718905C>G	NCBI36
NG_009873.1:g.156218G>C
NG_009873.2:g.156811G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6144G>C MANE Select	ENSP00000262367.5:p.Val2048=
ENST00000262367.9:c.6144G>C	ENSP00000262367.5:p.Val2048=
ENST00000382070.7:c.6030G>C	ENSP00000371502.3:p.Val2010=
NM_001079846.1:c.6030G>C	NP_001073315.1:p.Val2010=
NM_004380.2:c.6144G>C	NP_004371.2:p.Val2048=
XM_005255124.3:c.6099G>C	XP_005255181.1:p.Val2033=
XM_005255125.3:c.5727G>C	XP_005255182.1:p.Val1909=
XM_006720848.2:c.5883G>C	XP_006720911.1:p.Val1961=
XM_011522380.1:c.6090G>C	XP_011520682.1:p.Val2030=
XM_011522381.1:c.5391G>C	XP_011520683.1:p.Val1797=
XM_005255124.4:c.6099G>C	XP_005255181.1:p.Val2033=
XM_005255125.4:c.5727G>C	XP_005255182.1:p.Val1909=
XM_006720848.3:c.5883G>C	XP_006720911.1:p.Val1961=
XM_011522381.2:c.5391G>C	XP_011520683.1:p.Val1797=
XM_017022944.1:c.6138G>C	XP_016878433.1:p.Val2046=
NM_004380.3:c.6144G>C MANE Select	NP_004371.2:p.Val2048=