Canonical Allele Identifier: CA493279125

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2844135
• ClinVar RCV Id: RCV003758489
• dbSNP Id: rs2151329161
• MyVariant Identifiers: chr16:g.3786663G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736662G>A , CM000678.2:g.3736662G>A	GRCh38
NC_000016.9:g.3786663G>A , CM000678.1:g.3786663G>A	GRCh37
NC_000016.8:g.3726664G>A	NCBI36
NG_009873.1:g.148459C>T
NG_009873.2:g.149052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4548C>T MANE Select	ENSP00000262367.5:p.Ile1516=
ENST00000262367.9:c.4548C>T	ENSP00000262367.5:p.Ile1516=
ENST00000382070.7:c.4434C>T	ENSP00000371502.3:p.Ile1478=
ENST00000570939.2:c.3183C>T	ENSP00000461002.2:p.Ile1061=
ENST00000571763.5:n.338C>T
ENST00000574740.1:n.369C>T
ENST00000576720.1:n.3371C>T
NM_001079846.1:c.4434C>T	NP_001073315.1:p.Ile1478=
NM_004380.2:c.4548C>T	NP_004371.2:p.Ile1516=
XM_005255124.3:c.4503C>T	XP_005255181.1:p.Ile1501=
XM_005255125.3:c.4131C>T	XP_005255182.1:p.Ile1377=
XM_006720848.2:c.4287C>T	XP_006720911.1:p.Ile1429=
XM_011522380.1:c.4494C>T	XP_011520682.1:p.Ile1498=
XM_011522381.1:c.3795C>T	XP_011520683.1:p.Ile1265=
XM_005255124.4:c.4503C>T	XP_005255181.1:p.Ile1501=
XM_005255125.4:c.4131C>T	XP_005255182.1:p.Ile1377=
XM_006720848.3:c.4287C>T	XP_006720911.1:p.Ile1429=
XM_011522381.2:c.3795C>T	XP_011520683.1:p.Ile1265=
XM_017022944.1:c.4542C>T	XP_016878433.1:p.Ile1514=
NM_004380.3:c.4548C>T MANE Select	NP_004371.2:p.Ile1516=