Canonical Allele Identifier: CA7869173

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 588828
• ClinVar RCV Id: RCV002315324 ; RCV003983177
• dbSNP Id: rs775352905
• ExAC: 16:3778907 G / A
• gnomAD v2: 16-3778907-G-A
• gnomAD v3: 16-3728906-G-A
• gnomAD v4: 16-3728906-G-A
• MyVariant Identifiers: chr16:g.3778907G>A (hg19) ; chr16:g.3728906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728906G>A , CM000678.2:g.3728906G>A	GRCh38
NC_000016.9:g.3778907G>A , CM000678.1:g.3778907G>A	GRCh37
NC_000016.8:g.3718908G>A	NCBI36
NG_009873.1:g.156215C>T
NG_009873.2:g.156808C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6141C>T MANE Select	ENSP00000262367.5:p.Ala2047=
ENST00000262367.9:c.6141C>T	ENSP00000262367.5:p.Ala2047=
ENST00000382070.7:c.6027C>T	ENSP00000371502.3:p.Ala2009=
NM_001079846.1:c.6027C>T	NP_001073315.1:p.Ala2009=
NM_004380.2:c.6141C>T	NP_004371.2:p.Ala2047=
XM_005255124.3:c.6096C>T	XP_005255181.1:p.Ala2032=
XM_005255125.3:c.5724C>T	XP_005255182.1:p.Ala1908=
XM_006720848.2:c.5880C>T	XP_006720911.1:p.Ala1960=
XM_011522380.1:c.6087C>T	XP_011520682.1:p.Ala2029=
XM_011522381.1:c.5388C>T	XP_011520683.1:p.Ala1796=
XM_005255124.4:c.6096C>T	XP_005255181.1:p.Ala2032=
XM_005255125.4:c.5724C>T	XP_005255182.1:p.Ala1908=
XM_006720848.3:c.5880C>T	XP_006720911.1:p.Ala1960=
XM_011522381.2:c.5388C>T	XP_011520683.1:p.Ala1796=
XM_017022944.1:c.6135C>T	XP_016878433.1:p.Ala2045=
NM_004380.3:c.6141C>T MANE Select	NP_004371.2:p.Ala2047=