Canonical Allele Identifier: CA279194

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 190267
• ClinVar RCV Id: RCV000201310 ; RCV002485054 ; RCV002515218
• dbSNP Id: rs863223334
• gnomAD v3: 16-3727837-C-T
• gnomAD v4: 16-3727837-C-T
• MyVariant Identifiers: chr16:g.3777838C>T (hg19) ; chr16:g.3727837C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727837C>T , CM000678.2:g.3727837C>T	GRCh38
NC_000016.9:g.3777838C>T , CM000678.1:g.3777838C>T	GRCh37
NC_000016.8:g.3717839C>T	NCBI36
NG_009873.1:g.157284G>A
NG_009873.2:g.157877G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7210G>A MANE Select	ENSP00000262367.5:p.Glu2404Lys
ENST00000262367.9:c.7210G>A	ENSP00000262367.5:p.Glu2404Lys
ENST00000382070.7:c.7096G>A	ENSP00000371502.3:p.Glu2366Lys
NM_001079846.1:c.7096G>A	NP_001073315.1:p.Glu2366Lys
NM_004380.2:c.7210G>A	NP_004371.2:p.Glu2404Lys
XM_005255124.3:c.7165G>A	XP_005255181.1:p.Glu2389Lys
XM_005255125.3:c.6793G>A	XP_005255182.1:p.Glu2265Lys
XM_006720848.2:c.6949G>A	XP_006720911.1:p.Glu2317Lys
XM_011522380.1:c.7156G>A	XP_011520682.1:p.Glu2386Lys
XM_011522381.1:c.6457G>A	XP_011520683.1:p.Glu2153Lys
XM_005255124.4:c.7165G>A	XP_005255181.1:p.Glu2389Lys
XM_005255125.4:c.6793G>A	XP_005255182.1:p.Glu2265Lys
XM_006720848.3:c.6949G>A	XP_006720911.1:p.Glu2317Lys
XM_011522381.2:c.6457G>A	XP_011520683.1:p.Glu2153Lys
XM_017022944.1:c.7204G>A	XP_016878433.1:p.Glu2402Lys
NM_004380.3:c.7210G>A MANE Select	NP_004371.2:p.Glu2404Lys