Canonical Allele Identifier: CA7869171

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 3077353
• ClinVar RCV Id: RCV004367233
• dbSNP Id: rs758931614
• ExAC: 16:3778903 C / G
• gnomAD v2: 16-3778903-C-G
• gnomAD v4: 16-3728902-C-G
• MyVariant Identifiers: chr16:g.3778903C>G (hg19) ; chr16:g.3728902C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728902C>G , CM000678.2:g.3728902C>G	GRCh38
NC_000016.9:g.3778903C>G , CM000678.1:g.3778903C>G	GRCh37
NC_000016.8:g.3718904C>G	NCBI36
NG_009873.1:g.156219G>C
NG_009873.2:g.156812G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6145G>C MANE Select	ENSP00000262367.5:p.Ala2049Pro
ENST00000262367.9:c.6145G>C	ENSP00000262367.5:p.Ala2049Pro
ENST00000382070.7:c.6031G>C	ENSP00000371502.3:p.Ala2011Pro
NM_001079846.1:c.6031G>C	NP_001073315.1:p.Ala2011Pro
NM_004380.2:c.6145G>C	NP_004371.2:p.Ala2049Pro
XM_005255124.3:c.6100G>C	XP_005255181.1:p.Ala2034Pro
XM_005255125.3:c.5728G>C	XP_005255182.1:p.Ala1910Pro
XM_006720848.2:c.5884G>C	XP_006720911.1:p.Ala1962Pro
XM_011522380.1:c.6091G>C	XP_011520682.1:p.Ala2031Pro
XM_011522381.1:c.5392G>C	XP_011520683.1:p.Ala1798Pro
XM_005255124.4:c.6100G>C	XP_005255181.1:p.Ala2034Pro
XM_005255125.4:c.5728G>C	XP_005255182.1:p.Ala1910Pro
XM_006720848.3:c.5884G>C	XP_006720911.1:p.Ala1962Pro
XM_011522381.2:c.5392G>C	XP_011520683.1:p.Ala1798Pro
XM_017022944.1:c.6139G>C	XP_016878433.1:p.Ala2047Pro
NM_004380.3:c.6145G>C MANE Select	NP_004371.2:p.Ala2049Pro