Canonical Allele Identifier: CA394554261

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 3077352
• ClinVar RCV Id: RCV004367232
• dbSNP Id: rs1475564310
• gnomAD v2: 16-3778956-G-T
• gnomAD v4: 16-3728955-G-T
• MyVariant Identifiers: chr16:g.3778956G>T (hg19) ; chr16:g.3728955G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728955G>T , CM000678.2:g.3728955G>T	GRCh38
NC_000016.9:g.3778956G>T , CM000678.1:g.3778956G>T	GRCh37
NC_000016.8:g.3718957G>T	NCBI36
NG_009873.1:g.156166C>A
NG_009873.2:g.156759C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6092C>A MANE Select	ENSP00000262367.5:p.Pro2031His
ENST00000262367.9:c.6092C>A	ENSP00000262367.5:p.Pro2031His
ENST00000382070.7:c.5978C>A	ENSP00000371502.3:p.Pro1993His
NM_001079846.1:c.5978C>A	NP_001073315.1:p.Pro1993His
NM_004380.2:c.6092C>A	NP_004371.2:p.Pro2031His
XM_005255124.3:c.6047C>A	XP_005255181.1:p.Pro2016His
XM_005255125.3:c.5675C>A	XP_005255182.1:p.Pro1892His
XM_006720848.2:c.5831C>A	XP_006720911.1:p.Pro1944His
XM_011522380.1:c.6038C>A	XP_011520682.1:p.Pro2013His
XM_011522381.1:c.5339C>A	XP_011520683.1:p.Pro1780His
XM_005255124.4:c.6047C>A	XP_005255181.1:p.Pro2016His
XM_005255125.4:c.5675C>A	XP_005255182.1:p.Pro1892His
XM_006720848.3:c.5831C>A	XP_006720911.1:p.Pro1944His
XM_011522381.2:c.5339C>A	XP_011520683.1:p.Pro1780His
XM_017022944.1:c.6086C>A	XP_016878433.1:p.Pro2029His
NM_004380.3:c.6092C>A MANE Select	NP_004371.2:p.Pro2031His