Canonical Allele Identifier: CA493394027

Gene: CREBBP

Linked Data

• dbSNP Id: rs1228821966
• gnomAD v2: 16-3779471-C-T
• gnomAD v3: 16-3729470-C-T
• gnomAD v4: 16-3729470-C-T
• MyVariant Identifiers: chr16:g.3779471C>T (hg19) ; chr16:g.3729470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729470C>T , CM000678.2:g.3729470C>T	GRCh38
NC_000016.9:g.3779471C>T , CM000678.1:g.3779471C>T	GRCh37
NC_000016.8:g.3719472C>T	NCBI36
NG_009873.1:g.155651G>A
NG_009873.2:g.156244G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5577G>A MANE Select	ENSP00000262367.5:p.Leu1859=
ENST00000262367.9:c.5577G>A	ENSP00000262367.5:p.Leu1859=
ENST00000382070.7:c.5463G>A	ENSP00000371502.3:p.Leu1821=
NM_001079846.1:c.5463G>A	NP_001073315.1:p.Leu1821=
NM_004380.2:c.5577G>A	NP_004371.2:p.Leu1859=
XM_005255124.3:c.5532G>A	XP_005255181.1:p.Leu1844=
XM_005255125.3:c.5160G>A	XP_005255182.1:p.Leu1720=
XM_006720848.2:c.5316G>A	XP_006720911.1:p.Leu1772=
XM_011522380.1:c.5523G>A	XP_011520682.1:p.Leu1841=
XM_011522381.1:c.4824G>A	XP_011520683.1:p.Leu1608=
XM_005255124.4:c.5532G>A	XP_005255181.1:p.Leu1844=
XM_005255125.4:c.5160G>A	XP_005255182.1:p.Leu1720=
XM_006720848.3:c.5316G>A	XP_006720911.1:p.Leu1772=
XM_011522381.2:c.4824G>A	XP_011520683.1:p.Leu1608=
XM_017022944.1:c.5571G>A	XP_016878433.1:p.Leu1857=
NM_004380.3:c.5577G>A MANE Select	NP_004371.2:p.Leu1859=