Canonical Allele Identifier: CA7869240

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 577675
• ClinVar RCV Id: RCV002352188 ; RCV002485719 ; RCV003420244 ; RCV002233339
• dbSNP Id: rs765600316
• ExAC: 16:3779211 G / T
• gnomAD v2: 16-3779211-G-T
• gnomAD v3: 16-3729210-G-T
• gnomAD v4: 16-3729210-G-T
• MyVariant Identifiers: chr16:g.3779211G>T (hg19) ; chr16:g.3729210G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729210G>T , CM000678.2:g.3729210G>T	GRCh38
NC_000016.9:g.3779211G>T , CM000678.1:g.3779211G>T	GRCh37
NC_000016.8:g.3719212G>T	NCBI36
NG_009873.1:g.155911C>A
NG_009873.2:g.156504C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5837C>A MANE Select	ENSP00000262367.5:p.Pro1946Gln
ENST00000262367.9:c.5837C>A	ENSP00000262367.5:p.Pro1946Gln
ENST00000382070.7:c.5723C>A	ENSP00000371502.3:p.Pro1908Gln
NM_001079846.1:c.5723C>A	NP_001073315.1:p.Pro1908Gln
NM_004380.2:c.5837C>A	NP_004371.2:p.Pro1946Gln
XM_005255124.3:c.5792C>A	XP_005255181.1:p.Pro1931Gln
XM_005255125.3:c.5420C>A	XP_005255182.1:p.Pro1807Gln
XM_006720848.2:c.5576C>A	XP_006720911.1:p.Pro1859Gln
XM_011522380.1:c.5783C>A	XP_011520682.1:p.Pro1928Gln
XM_011522381.1:c.5084C>A	XP_011520683.1:p.Pro1695Gln
XM_005255124.4:c.5792C>A	XP_005255181.1:p.Pro1931Gln
XM_005255125.4:c.5420C>A	XP_005255182.1:p.Pro1807Gln
XM_006720848.3:c.5576C>A	XP_006720911.1:p.Pro1859Gln
XM_011522381.2:c.5084C>A	XP_011520683.1:p.Pro1695Gln
XM_017022944.1:c.5831C>A	XP_016878433.1:p.Pro1944Gln
NM_004380.3:c.5837C>A MANE Select	NP_004371.2:p.Pro1946Gln