Canonical Allele Identifier: CA493393068

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 749933
• ClinVar RCV Id: RCV000926862
• dbSNP Id: rs1596780214
• gnomAD v4: 16-3727757-G-T
• MyVariant Identifiers: chr16:g.3777758G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727757G>T , CM000678.2:g.3727757G>T	GRCh38
NC_000016.9:g.3777758G>T , CM000678.1:g.3777758G>T	GRCh37
NC_000016.8:g.3717759G>T	NCBI36
NG_009873.1:g.157364C>A
NG_009873.2:g.157957C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7290C>A MANE Select	ENSP00000262367.5:p.Thr2430=
ENST00000262367.9:c.7290C>A	ENSP00000262367.5:p.Thr2430=
ENST00000382070.7:c.7176C>A	ENSP00000371502.3:p.Thr2392=
NM_001079846.1:c.7176C>A	NP_001073315.1:p.Thr2392=
NM_004380.2:c.7290C>A	NP_004371.2:p.Thr2430=
XM_005255124.3:c.7245C>A	XP_005255181.1:p.Thr2415=
XM_005255125.3:c.6873C>A	XP_005255182.1:p.Thr2291=
XM_006720848.2:c.7029C>A	XP_006720911.1:p.Thr2343=
XM_011522380.1:c.7236C>A	XP_011520682.1:p.Thr2412=
XM_011522381.1:c.6537C>A	XP_011520683.1:p.Thr2179=
XM_005255124.4:c.7245C>A	XP_005255181.1:p.Thr2415=
XM_005255125.4:c.6873C>A	XP_005255182.1:p.Thr2291=
XM_006720848.3:c.7029C>A	XP_006720911.1:p.Thr2343=
XM_011522381.2:c.6537C>A	XP_011520683.1:p.Thr2179=
XM_017022944.1:c.7284C>A	XP_016878433.1:p.Thr2428=
NM_004380.3:c.7290C>A MANE Select	NP_004371.2:p.Thr2430=