Canonical Allele Identifier: CA493279311

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052070559
• MyVariant Identifiers: chr16:g.3786716G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736715G>A , CM000678.2:g.3736715G>A	GRCh38
NC_000016.9:g.3786716G>A , CM000678.1:g.3786716G>A	GRCh37
NC_000016.8:g.3726717G>A	NCBI36
NG_009873.1:g.148406C>T
NG_009873.2:g.148999C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4495C>T MANE Select	ENSP00000262367.5:p.Leu1499=
ENST00000262367.9:c.4495C>T	ENSP00000262367.5:p.Leu1499=
ENST00000382070.7:c.4381C>T	ENSP00000371502.3:p.Leu1461=
ENST00000570939.2:c.3130C>T	ENSP00000461002.2:p.Leu1044=
ENST00000571763.5:n.285C>T
ENST00000574740.1:n.316C>T
ENST00000576720.1:n.3318C>T
NM_001079846.1:c.4381C>T	NP_001073315.1:p.Leu1461=
NM_004380.2:c.4495C>T	NP_004371.2:p.Leu1499=
XM_005255124.3:c.4450C>T	XP_005255181.1:p.Leu1484=
XM_005255125.3:c.4078C>T	XP_005255182.1:p.Leu1360=
XM_006720848.2:c.4234C>T	XP_006720911.1:p.Leu1412=
XM_011522380.1:c.4441C>T	XP_011520682.1:p.Leu1481=
XM_011522381.1:c.3742C>T	XP_011520683.1:p.Leu1248=
XM_005255124.4:c.4450C>T	XP_005255181.1:p.Leu1484=
XM_005255125.4:c.4078C>T	XP_005255182.1:p.Leu1360=
XM_006720848.3:c.4234C>T	XP_006720911.1:p.Leu1412=
XM_011522381.2:c.3742C>T	XP_011520683.1:p.Leu1248=
XM_017022944.1:c.4489C>T	XP_016878433.1:p.Leu1497=
NM_004380.3:c.4495C>T MANE Select	NP_004371.2:p.Leu1499=