Canonical Allele Identifier: CA7868926

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2066079
• ClinVar RCV Id: RCV002933950 ; RCV003434536 ; RCV003963484
• dbSNP Id: rs200566758
• ExAC: 16:3777792 G / A
• gnomAD v2: 16-3777792-G-A
• gnomAD v3: 16-3727791-G-A
• gnomAD v4: 16-3727791-G-A
• MyVariant Identifiers: chr16:g.3777792G>A (hg19) ; chr16:g.3727791G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727791G>A , CM000678.2:g.3727791G>A	GRCh38
NC_000016.9:g.3777792G>A , CM000678.1:g.3777792G>A	GRCh37
NC_000016.8:g.3717793G>A	NCBI36
NG_009873.1:g.157330C>T
NG_009873.2:g.157923C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7256C>T MANE Select	ENSP00000262367.5:p.Ala2419Val
ENST00000262367.9:c.7256C>T	ENSP00000262367.5:p.Ala2419Val
ENST00000382070.7:c.7142C>T	ENSP00000371502.3:p.Ala2381Val
NM_001079846.1:c.7142C>T	NP_001073315.1:p.Ala2381Val
NM_004380.2:c.7256C>T	NP_004371.2:p.Ala2419Val
XM_005255124.3:c.7211C>T	XP_005255181.1:p.Ala2404Val
XM_005255125.3:c.6839C>T	XP_005255182.1:p.Ala2280Val
XM_006720848.2:c.6995C>T	XP_006720911.1:p.Ala2332Val
XM_011522380.1:c.7202C>T	XP_011520682.1:p.Ala2401Val
XM_011522381.1:c.6503C>T	XP_011520683.1:p.Ala2168Val
XM_005255124.4:c.7211C>T	XP_005255181.1:p.Ala2404Val
XM_005255125.4:c.6839C>T	XP_005255182.1:p.Ala2280Val
XM_006720848.3:c.6995C>T	XP_006720911.1:p.Ala2332Val
XM_011522381.2:c.6503C>T	XP_011520683.1:p.Ala2168Val
XM_017022944.1:c.7250C>T	XP_016878433.1:p.Ala2417Val
NM_004380.3:c.7256C>T MANE Select	NP_004371.2:p.Ala2419Val