Canonical Allele Identifier: CA7868910

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2144842
• ClinVar RCV Id: RCV003071136
• dbSNP Id: rs748024973
• ExAC: 16:3777722 C / T
• gnomAD v2: 16-3777722-C-T
• gnomAD v4: 16-3727721-C-T
• MyVariant Identifiers: chr16:g.3777722C>T (hg19) ; chr16:g.3727721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727721C>T , CM000678.2:g.3727721C>T	GRCh38
NC_000016.9:g.3777722C>T , CM000678.1:g.3777722C>T	GRCh37
NC_000016.8:g.3717723C>T	NCBI36
NG_009873.1:g.157400G>A
NG_009873.2:g.157993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7326G>A MANE Select	ENSP00000262367.5:p.Leu2442=
ENST00000262367.9:c.7326G>A	ENSP00000262367.5:p.Leu2442=
ENST00000382070.7:c.7212G>A	ENSP00000371502.3:p.Leu2404=
NM_001079846.1:c.7212G>A	NP_001073315.1:p.Leu2404=
NM_004380.2:c.7326G>A	NP_004371.2:p.Leu2442=
XM_005255124.3:c.7281G>A	XP_005255181.1:p.Leu2427=
XM_005255125.3:c.6909G>A	XP_005255182.1:p.Leu2303=
XM_006720848.2:c.7065G>A	XP_006720911.1:p.Leu2355=
XM_011522380.1:c.7272G>A	XP_011520682.1:p.Leu2424=
XM_011522381.1:c.6573G>A	XP_011520683.1:p.Leu2191=
XM_005255124.4:c.7281G>A	XP_005255181.1:p.Leu2427=
XM_005255125.4:c.6909G>A	XP_005255182.1:p.Leu2303=
XM_006720848.3:c.7065G>A	XP_006720911.1:p.Leu2355=
XM_011522381.2:c.6573G>A	XP_011520683.1:p.Leu2191=
XM_017022944.1:c.7320G>A	XP_016878433.1:p.Leu2440=
NM_004380.3:c.7326G>A MANE Select	NP_004371.2:p.Leu2442=