Canonical Allele Identifier: CA394555598

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729291-G-T
• MyVariant Identifiers: chr16:g.3779292G>T (hg19) ; chr16:g.3729291G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729291G>T , CM000678.2:g.3729291G>T	GRCh38
NC_000016.9:g.3779292G>T , CM000678.1:g.3779292G>T	GRCh37
NC_000016.8:g.3719293G>T	NCBI36
NG_009873.1:g.155830C>A
NG_009873.2:g.156423C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5756C>A MANE Select	ENSP00000262367.5:p.Ala1919Asp
ENST00000262367.9:c.5756C>A	ENSP00000262367.5:p.Ala1919Asp
ENST00000382070.7:c.5642C>A	ENSP00000371502.3:p.Ala1881Asp
NM_001079846.1:c.5642C>A	NP_001073315.1:p.Ala1881Asp
NM_004380.2:c.5756C>A	NP_004371.2:p.Ala1919Asp
XM_005255124.3:c.5711C>A	XP_005255181.1:p.Ala1904Asp
XM_005255125.3:c.5339C>A	XP_005255182.1:p.Ala1780Asp
XM_006720848.2:c.5495C>A	XP_006720911.1:p.Ala1832Asp
XM_011522380.1:c.5702C>A	XP_011520682.1:p.Ala1901Asp
XM_011522381.1:c.5003C>A	XP_011520683.1:p.Ala1668Asp
XM_005255124.4:c.5711C>A	XP_005255181.1:p.Ala1904Asp
XM_005255125.4:c.5339C>A	XP_005255182.1:p.Ala1780Asp
XM_006720848.3:c.5495C>A	XP_006720911.1:p.Ala1832Asp
XM_011522381.2:c.5003C>A	XP_011520683.1:p.Ala1668Asp
XM_017022944.1:c.5750C>A	XP_016878433.1:p.Ala1917Asp
NM_004380.3:c.5756C>A MANE Select	NP_004371.2:p.Ala1919Asp