Canonical Allele Identifier: CA493393878

Gene: CREBBP

Linked Data

• dbSNP Id: rs554810606
• gnomAD v2: 16-3779183-C-G
• gnomAD v4: 16-3729182-C-G
• MyVariant Identifiers: chr16:g.3779183C>G (hg19) ; chr16:g.3729182C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729182C>G , CM000678.2:g.3729182C>G	GRCh38
NC_000016.9:g.3779183C>G , CM000678.1:g.3779183C>G	GRCh37
NC_000016.8:g.3719184C>G	NCBI36
NG_009873.1:g.155939G>C
NG_009873.2:g.156532G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5865G>C MANE Select	ENSP00000262367.5:p.Ala1955=
ENST00000262367.9:c.5865G>C	ENSP00000262367.5:p.Ala1955=
ENST00000382070.7:c.5751G>C	ENSP00000371502.3:p.Ala1917=
NM_001079846.1:c.5751G>C	NP_001073315.1:p.Ala1917=
NM_004380.2:c.5865G>C	NP_004371.2:p.Ala1955=
XM_005255124.3:c.5820G>C	XP_005255181.1:p.Ala1940=
XM_005255125.3:c.5448G>C	XP_005255182.1:p.Ala1816=
XM_006720848.2:c.5604G>C	XP_006720911.1:p.Ala1868=
XM_011522380.1:c.5811G>C	XP_011520682.1:p.Ala1937=
XM_011522381.1:c.5112G>C	XP_011520683.1:p.Ala1704=
XM_005255124.4:c.5820G>C	XP_005255181.1:p.Ala1940=
XM_005255125.4:c.5448G>C	XP_005255182.1:p.Ala1816=
XM_006720848.3:c.5604G>C	XP_006720911.1:p.Ala1868=
XM_011522381.2:c.5112G>C	XP_011520683.1:p.Ala1704=
XM_017022944.1:c.5859G>C	XP_016878433.1:p.Ala1953=
NM_004380.3:c.5865G>C MANE Select	NP_004371.2:p.Ala1955=