Canonical Allele Identifier: CA394563931

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329858
• MyVariant Identifiers: chr16:g.3786769T>G (hg19) ; chr16:g.3736768T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736768T>G , CM000678.2:g.3736768T>G	GRCh38
NC_000016.9:g.3786769T>G , CM000678.1:g.3786769T>G	GRCh37
NC_000016.8:g.3726770T>G	NCBI36
NG_009873.1:g.148353A>C
NG_009873.2:g.148946A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4442A>C MANE Select	ENSP00000262367.5:p.Asp1481Ala
ENST00000262367.9:c.4442A>C	ENSP00000262367.5:p.Asp1481Ala
ENST00000382070.7:c.4328A>C	ENSP00000371502.3:p.Asp1443Ala
ENST00000570939.2:c.3077A>C	ENSP00000461002.2:p.Asp1026Ala
ENST00000571763.5:n.232A>C
ENST00000574740.1:n.263A>C
ENST00000576720.1:n.3265A>C
NM_001079846.1:c.4328A>C	NP_001073315.1:p.Asp1443Ala
NM_004380.2:c.4442A>C	NP_004371.2:p.Asp1481Ala
XM_005255124.3:c.4397A>C	XP_005255181.1:p.Asp1466Ala
XM_005255125.3:c.4025A>C	XP_005255182.1:p.Asp1342Ala
XM_006720848.2:c.4181A>C	XP_006720911.1:p.Asp1394Ala
XM_011522380.1:c.4388A>C	XP_011520682.1:p.Asp1463Ala
XM_011522381.1:c.3689A>C	XP_011520683.1:p.Asp1230Ala
XM_005255124.4:c.4397A>C	XP_005255181.1:p.Asp1466Ala
XM_005255125.4:c.4025A>C	XP_005255182.1:p.Asp1342Ala
XM_006720848.3:c.4181A>C	XP_006720911.1:p.Asp1394Ala
XM_011522381.2:c.3689A>C	XP_011520683.1:p.Asp1230Ala
XM_017022944.1:c.4436A>C	XP_016878433.1:p.Asp1479Ala
NM_004380.3:c.4442A>C MANE Select	NP_004371.2:p.Asp1481Ala