Canonical Allele Identifier: CA394554712

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729060-G-T
• MyVariant Identifiers: chr16:g.3779061G>T (hg19) ; chr16:g.3729060G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729060G>T , CM000678.2:g.3729060G>T	GRCh38
NC_000016.9:g.3779061G>T , CM000678.1:g.3779061G>T	GRCh37
NC_000016.8:g.3719062G>T	NCBI36
NG_009873.1:g.156061C>A
NG_009873.2:g.156654C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5987C>A MANE Select	ENSP00000262367.5:p.Ala1996Asp
ENST00000262367.9:c.5987C>A	ENSP00000262367.5:p.Ala1996Asp
ENST00000382070.7:c.5873C>A	ENSP00000371502.3:p.Ala1958Asp
NM_001079846.1:c.5873C>A	NP_001073315.1:p.Ala1958Asp
NM_004380.2:c.5987C>A	NP_004371.2:p.Ala1996Asp
XM_005255124.3:c.5942C>A	XP_005255181.1:p.Ala1981Asp
XM_005255125.3:c.5570C>A	XP_005255182.1:p.Ala1857Asp
XM_006720848.2:c.5726C>A	XP_006720911.1:p.Ala1909Asp
XM_011522380.1:c.5933C>A	XP_011520682.1:p.Ala1978Asp
XM_011522381.1:c.5234C>A	XP_011520683.1:p.Ala1745Asp
XM_005255124.4:c.5942C>A	XP_005255181.1:p.Ala1981Asp
XM_005255125.4:c.5570C>A	XP_005255182.1:p.Ala1857Asp
XM_006720848.3:c.5726C>A	XP_006720911.1:p.Ala1909Asp
XM_011522381.2:c.5234C>A	XP_011520683.1:p.Ala1745Asp
XM_017022944.1:c.5981C>A	XP_016878433.1:p.Ala1994Asp
NM_004380.3:c.5987C>A MANE Select	NP_004371.2:p.Ala1996Asp