Canonical Allele Identifier: CA7869224

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1285882
• ClinVar RCV Id: RCV001708176 ; RCV003759063
• dbSNP Id: rs754429038
• ExAC: 16:3779118 A / T
• gnomAD v2: 16-3779118-A-T
• gnomAD v3: 16-3729117-A-T
• gnomAD v4: 16-3729117-A-T
• MyVariant Identifiers: chr16:g.3779118A>T (hg19) ; chr16:g.3729117A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729117A>T , CM000678.2:g.3729117A>T	GRCh38
NC_000016.9:g.3779118A>T , CM000678.1:g.3779118A>T	GRCh37
NC_000016.8:g.3719119A>T	NCBI36
NG_009873.1:g.156004T>A
NG_009873.2:g.156597T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5930T>A MANE Select	ENSP00000262367.5:p.Ile1977Asn
ENST00000262367.9:c.5930T>A	ENSP00000262367.5:p.Ile1977Asn
ENST00000382070.7:c.5816T>A	ENSP00000371502.3:p.Ile1939Asn
NM_001079846.1:c.5816T>A	NP_001073315.1:p.Ile1939Asn
NM_004380.2:c.5930T>A	NP_004371.2:p.Ile1977Asn
XM_005255124.3:c.5885T>A	XP_005255181.1:p.Ile1962Asn
XM_005255125.3:c.5513T>A	XP_005255182.1:p.Ile1838Asn
XM_006720848.2:c.5669T>A	XP_006720911.1:p.Ile1890Asn
XM_011522380.1:c.5876T>A	XP_011520682.1:p.Ile1959Asn
XM_011522381.1:c.5177T>A	XP_011520683.1:p.Ile1726Asn
XM_005255124.4:c.5885T>A	XP_005255181.1:p.Ile1962Asn
XM_005255125.4:c.5513T>A	XP_005255182.1:p.Ile1838Asn
XM_006720848.3:c.5669T>A	XP_006720911.1:p.Ile1890Asn
XM_011522381.2:c.5177T>A	XP_011520683.1:p.Ile1726Asn
XM_017022944.1:c.5924T>A	XP_016878433.1:p.Ile1975Asn
NM_004380.3:c.5930T>A MANE Select	NP_004371.2:p.Ile1977Asn