Canonical Allele Identifier: CA394554640

Gene: CREBBP

Linked Data

• dbSNP Id: rs1194053924
• gnomAD v2: 16-3779044-C-T
• gnomAD v3: 16-3729043-C-T
• gnomAD v4: 16-3729043-C-T
• MyVariant Identifiers: chr16:g.3779044C>T (hg19) ; chr16:g.3729043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729043C>T , CM000678.2:g.3729043C>T	GRCh38
NC_000016.9:g.3779044C>T , CM000678.1:g.3779044C>T	GRCh37
NC_000016.8:g.3719045C>T	NCBI36
NG_009873.1:g.156078G>A
NG_009873.2:g.156671G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6004G>A MANE Select	ENSP00000262367.5:p.Val2002Met
ENST00000262367.9:c.6004G>A	ENSP00000262367.5:p.Val2002Met
ENST00000382070.7:c.5890G>A	ENSP00000371502.3:p.Val1964Met
NM_001079846.1:c.5890G>A	NP_001073315.1:p.Val1964Met
NM_004380.2:c.6004G>A	NP_004371.2:p.Val2002Met
XM_005255124.3:c.5959G>A	XP_005255181.1:p.Val1987Met
XM_005255125.3:c.5587G>A	XP_005255182.1:p.Val1863Met
XM_006720848.2:c.5743G>A	XP_006720911.1:p.Val1915Met
XM_011522380.1:c.5950G>A	XP_011520682.1:p.Val1984Met
XM_011522381.1:c.5251G>A	XP_011520683.1:p.Val1751Met
XM_005255124.4:c.5959G>A	XP_005255181.1:p.Val1987Met
XM_005255125.4:c.5587G>A	XP_005255182.1:p.Val1863Met
XM_006720848.3:c.5743G>A	XP_006720911.1:p.Val1915Met
XM_011522381.2:c.5251G>A	XP_011520683.1:p.Val1751Met
XM_017022944.1:c.5998G>A	XP_016878433.1:p.Val2000Met
NM_004380.3:c.6004G>A MANE Select	NP_004371.2:p.Val2002Met