Canonical Allele Identifier: CA493279495

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052071961
• MyVariant Identifiers: chr16:g.3786762G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736761G>A , CM000678.2:g.3736761G>A	GRCh38
NC_000016.9:g.3786762G>A , CM000678.1:g.3786762G>A	GRCh37
NC_000016.8:g.3726763G>A	NCBI36
NG_009873.1:g.148360C>T
NG_009873.2:g.148953C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4449C>T MANE Select	ENSP00000262367.5:p.Ile1483=
ENST00000262367.9:c.4449C>T	ENSP00000262367.5:p.Ile1483=
ENST00000382070.7:c.4335C>T	ENSP00000371502.3:p.Ile1445=
ENST00000570939.2:c.3084C>T	ENSP00000461002.2:p.Ile1028=
ENST00000571763.5:n.239C>T
ENST00000574740.1:n.270C>T
ENST00000576720.1:n.3272C>T
NM_001079846.1:c.4335C>T	NP_001073315.1:p.Ile1445=
NM_004380.2:c.4449C>T	NP_004371.2:p.Ile1483=
XM_005255124.3:c.4404C>T	XP_005255181.1:p.Ile1468=
XM_005255125.3:c.4032C>T	XP_005255182.1:p.Ile1344=
XM_006720848.2:c.4188C>T	XP_006720911.1:p.Ile1396=
XM_011522380.1:c.4395C>T	XP_011520682.1:p.Ile1465=
XM_011522381.1:c.3696C>T	XP_011520683.1:p.Ile1232=
XM_005255124.4:c.4404C>T	XP_005255181.1:p.Ile1468=
XM_005255125.4:c.4032C>T	XP_005255182.1:p.Ile1344=
XM_006720848.3:c.4188C>T	XP_006720911.1:p.Ile1396=
XM_011522381.2:c.3696C>T	XP_011520683.1:p.Ile1232=
XM_017022944.1:c.4443C>T	XP_016878433.1:p.Ile1481=
NM_004380.3:c.4449C>T MANE Select	NP_004371.2:p.Ile1483=