Canonical Allele Identifier: CA493393035

Gene: CREBBP

Linked Data

• dbSNP Id: rs1312025473
• gnomAD v2: 16-3778130-C-T
• gnomAD v4: 16-3728129-C-T
• MyVariant Identifiers: chr16:g.3778130C>T (hg19) ; chr16:g.3728129C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728129C>T , CM000678.2:g.3728129C>T	GRCh38
NC_000016.9:g.3778130C>T , CM000678.1:g.3778130C>T	GRCh37
NC_000016.8:g.3718131C>T	NCBI36
NG_009873.1:g.156992G>A
NG_009873.2:g.157585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6918G>A MANE Select	ENSP00000262367.5:p.Gly2306=
ENST00000262367.9:c.6918G>A	ENSP00000262367.5:p.Gly2306=
ENST00000382070.7:c.6804G>A	ENSP00000371502.3:p.Gly2268=
NM_001079846.1:c.6804G>A	NP_001073315.1:p.Gly2268=
NM_004380.2:c.6918G>A	NP_004371.2:p.Gly2306=
XM_005255124.3:c.6873G>A	XP_005255181.1:p.Gly2291=
XM_005255125.3:c.6501G>A	XP_005255182.1:p.Gly2167=
XM_006720848.2:c.6657G>A	XP_006720911.1:p.Gly2219=
XM_011522380.1:c.6864G>A	XP_011520682.1:p.Gly2288=
XM_011522381.1:c.6165G>A	XP_011520683.1:p.Gly2055=
XM_005255124.4:c.6873G>A	XP_005255181.1:p.Gly2291=
XM_005255125.4:c.6501G>A	XP_005255182.1:p.Gly2167=
XM_006720848.3:c.6657G>A	XP_006720911.1:p.Gly2219=
XM_011522381.2:c.6165G>A	XP_011520683.1:p.Gly2055=
XM_017022944.1:c.6912G>A	XP_016878433.1:p.Gly2304=
NM_004380.3:c.6918G>A MANE Select	NP_004371.2:p.Gly2306=