Canonical Allele Identifier: CA394563353

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329198
• MyVariant Identifiers: chr16:g.3786668T>A (hg19) ; chr16:g.3736667T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736667T>A , CM000678.2:g.3736667T>A	GRCh38
NC_000016.9:g.3786668T>A , CM000678.1:g.3786668T>A	GRCh37
NC_000016.8:g.3726669T>A	NCBI36
NG_009873.1:g.148454A>T
NG_009873.2:g.149047A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4543A>T MANE Select	ENSP00000262367.5:p.Ile1515Phe
ENST00000262367.9:c.4543A>T	ENSP00000262367.5:p.Ile1515Phe
ENST00000382070.7:c.4429A>T	ENSP00000371502.3:p.Ile1477Phe
ENST00000570939.2:c.3178A>T	ENSP00000461002.2:p.Ile1060Phe
ENST00000571763.5:n.333A>T
ENST00000574740.1:n.364A>T
ENST00000576720.1:n.3366A>T
NM_001079846.1:c.4429A>T	NP_001073315.1:p.Ile1477Phe
NM_004380.2:c.4543A>T	NP_004371.2:p.Ile1515Phe
XM_005255124.3:c.4498A>T	XP_005255181.1:p.Ile1500Phe
XM_005255125.3:c.4126A>T	XP_005255182.1:p.Ile1376Phe
XM_006720848.2:c.4282A>T	XP_006720911.1:p.Ile1428Phe
XM_011522380.1:c.4489A>T	XP_011520682.1:p.Ile1497Phe
XM_011522381.1:c.3790A>T	XP_011520683.1:p.Ile1264Phe
XM_005255124.4:c.4498A>T	XP_005255181.1:p.Ile1500Phe
XM_005255125.4:c.4126A>T	XP_005255182.1:p.Ile1376Phe
XM_006720848.3:c.4282A>T	XP_006720911.1:p.Ile1428Phe
XM_011522381.2:c.3790A>T	XP_011520683.1:p.Ile1264Phe
XM_017022944.1:c.4537A>T	XP_016878433.1:p.Ile1513Phe
NM_004380.3:c.4543A>T MANE Select	NP_004371.2:p.Ile1515Phe