Canonical Allele Identifier: CA7869277

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1747703
• ClinVar RCV Id: RCV002349755
• dbSNP Id: rs757233262
• ExAC: 16:3779579 G / A
• gnomAD v2: 16-3779579-G-A
• gnomAD v4: 16-3729578-G-A
• MyVariant Identifiers: chr16:g.3779579G>A (hg19) ; chr16:g.3729578G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729578G>A , CM000678.2:g.3729578G>A	GRCh38
NC_000016.9:g.3779579G>A , CM000678.1:g.3779579G>A	GRCh37
NC_000016.8:g.3719580G>A	NCBI36
NG_009873.1:g.155543C>T
NG_009873.2:g.156136C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5469C>T MANE Select	ENSP00000262367.5:p.Ile1823=
ENST00000262367.9:c.5469C>T	ENSP00000262367.5:p.Ile1823=
ENST00000382070.7:c.5355C>T	ENSP00000371502.3:p.Ile1785=
NM_001079846.1:c.5355C>T	NP_001073315.1:p.Ile1785=
NM_004380.2:c.5469C>T	NP_004371.2:p.Ile1823=
XM_005255124.3:c.5424C>T	XP_005255181.1:p.Ile1808=
XM_005255125.3:c.5052C>T	XP_005255182.1:p.Ile1684=
XM_006720848.2:c.5208C>T	XP_006720911.1:p.Ile1736=
XM_011522380.1:c.5415C>T	XP_011520682.1:p.Ile1805=
XM_011522381.1:c.4716C>T	XP_011520683.1:p.Ile1572=
XM_005255124.4:c.5424C>T	XP_005255181.1:p.Ile1808=
XM_005255125.4:c.5052C>T	XP_005255182.1:p.Ile1684=
XM_006720848.3:c.5208C>T	XP_006720911.1:p.Ile1736=
XM_011522381.2:c.4716C>T	XP_011520683.1:p.Ile1572=
XM_017022944.1:c.5463C>T	XP_016878433.1:p.Ile1821=
NM_004380.3:c.5469C>T MANE Select	NP_004371.2:p.Ile1823=