Canonical Allele Identifier: CA394554191

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1328193
• ClinVar RCV Id: RCV001795629
• dbSNP Id: rs1233260464
• gnomAD v2: 16-3778933-C-T
• gnomAD v4: 16-3728932-C-T
• MyVariant Identifiers: chr16:g.3778933C>T (hg19) ; chr16:g.3728932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728932C>T , CM000678.2:g.3728932C>T	GRCh38
NC_000016.9:g.3778933C>T , CM000678.1:g.3778933C>T	GRCh37
NC_000016.8:g.3718934C>T	NCBI36
NG_009873.1:g.156189G>A
NG_009873.2:g.156782G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6115G>A MANE Select	ENSP00000262367.5:p.Val2039Met
ENST00000262367.9:c.6115G>A	ENSP00000262367.5:p.Val2039Met
ENST00000382070.7:c.6001G>A	ENSP00000371502.3:p.Val2001Met
NM_001079846.1:c.6001G>A	NP_001073315.1:p.Val2001Met
NM_004380.2:c.6115G>A	NP_004371.2:p.Val2039Met
XM_005255124.3:c.6070G>A	XP_005255181.1:p.Val2024Met
XM_005255125.3:c.5698G>A	XP_005255182.1:p.Val1900Met
XM_006720848.2:c.5854G>A	XP_006720911.1:p.Val1952Met
XM_011522380.1:c.6061G>A	XP_011520682.1:p.Val2021Met
XM_011522381.1:c.5362G>A	XP_011520683.1:p.Val1788Met
XM_005255124.4:c.6070G>A	XP_005255181.1:p.Val2024Met
XM_005255125.4:c.5698G>A	XP_005255182.1:p.Val1900Met
XM_006720848.3:c.5854G>A	XP_006720911.1:p.Val1952Met
XM_011522381.2:c.5362G>A	XP_011520683.1:p.Val1788Met
XM_017022944.1:c.6109G>A	XP_016878433.1:p.Val2037Met
NM_004380.3:c.6115G>A MANE Select	NP_004371.2:p.Val2039Met