Canonical Allele Identifier: CA7869161

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 587874
• ClinVar RCV Id: RCV000893896 ; RCV001709683 ; RCV002312362 ; RCV003928188 ; RCV002507253
• dbSNP Id: rs374150949
• ExAC: 16:3778853 G / A
• gnomAD v2: 16-3778853-G-A
• gnomAD v3: 16-3728852-G-A
• gnomAD v4: 16-3728852-G-A
• MyVariant Identifiers: chr16:g.3778853G>A (hg19) ; chr16:g.3728852G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728852G>A , CM000678.2:g.3728852G>A	GRCh38
NC_000016.9:g.3778853G>A , CM000678.1:g.3778853G>A	GRCh37
NC_000016.8:g.3718854G>A	NCBI36
NG_009873.1:g.156269C>T
NG_009873.2:g.156862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6195C>T MANE Select	ENSP00000262367.5:p.Ser2065=
ENST00000262367.9:c.6195C>T	ENSP00000262367.5:p.Ser2065=
ENST00000382070.7:c.6081C>T	ENSP00000371502.3:p.Ser2027=
NM_001079846.1:c.6081C>T	NP_001073315.1:p.Ser2027=
NM_004380.2:c.6195C>T	NP_004371.2:p.Ser2065=
XM_005255124.3:c.6150C>T	XP_005255181.1:p.Ser2050=
XM_005255125.3:c.5778C>T	XP_005255182.1:p.Ser1926=
XM_006720848.2:c.5934C>T	XP_006720911.1:p.Ser1978=
XM_011522380.1:c.6141C>T	XP_011520682.1:p.Ser2047=
XM_011522381.1:c.5442C>T	XP_011520683.1:p.Ser1814=
XM_005255124.4:c.6150C>T	XP_005255181.1:p.Ser2050=
XM_005255125.4:c.5778C>T	XP_005255182.1:p.Ser1926=
XM_006720848.3:c.5934C>T	XP_006720911.1:p.Ser1978=
XM_011522381.2:c.5442C>T	XP_011520683.1:p.Ser1814=
XM_017022944.1:c.6189C>T	XP_016878433.1:p.Ser2063=
NM_004380.3:c.6195C>T MANE Select	NP_004371.2:p.Ser2065=