Canonical Allele Identifier: CA394556386

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2813142
• ClinVar RCV Id: RCV003760843
• dbSNP Id: rs747252584
• gnomAD v4: 16-3729607-C-T
• COSMIC: COSM4888087
• MyVariant Identifiers: chr16:g.3779608C>T (hg19) ; chr16:g.3729607C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729607C>T , CM000678.2:g.3729607C>T	GRCh38
NC_000016.9:g.3779608C>T , CM000678.1:g.3779608C>T	GRCh37
NC_000016.8:g.3719609C>T	NCBI36
NG_009873.1:g.155514G>A
NG_009873.2:g.156107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5440G>A MANE Select	ENSP00000262367.5:p.Gly1814Arg
ENST00000262367.9:c.5440G>A	ENSP00000262367.5:p.Gly1814Arg
ENST00000382070.7:c.5326G>A	ENSP00000371502.3:p.Gly1776Arg
NM_001079846.1:c.5326G>A	NP_001073315.1:p.Gly1776Arg
NM_004380.2:c.5440G>A	NP_004371.2:p.Gly1814Arg
XM_005255124.3:c.5395G>A	XP_005255181.1:p.Gly1799Arg
XM_005255125.3:c.5023G>A	XP_005255182.1:p.Gly1675Arg
XM_006720848.2:c.5179G>A	XP_006720911.1:p.Gly1727Arg
XM_011522380.1:c.5386G>A	XP_011520682.1:p.Gly1796Arg
XM_011522381.1:c.4687G>A	XP_011520683.1:p.Gly1563Arg
XM_005255124.4:c.5395G>A	XP_005255181.1:p.Gly1799Arg
XM_005255125.4:c.5023G>A	XP_005255182.1:p.Gly1675Arg
XM_006720848.3:c.5179G>A	XP_006720911.1:p.Gly1727Arg
XM_011522381.2:c.4687G>A	XP_011520683.1:p.Gly1563Arg
XM_017022944.1:c.5434G>A	XP_016878433.1:p.Gly1812Arg
NM_004380.3:c.5440G>A MANE Select	NP_004371.2:p.Gly1814Arg