Canonical Allele Identifier: CA394554297

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728962-G-T
• MyVariant Identifiers: chr16:g.3778963G>T (hg19) ; chr16:g.3728962G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728962G>T , CM000678.2:g.3728962G>T	GRCh38
NC_000016.9:g.3778963G>T , CM000678.1:g.3778963G>T	GRCh37
NC_000016.8:g.3718964G>T	NCBI36
NG_009873.1:g.156159C>A
NG_009873.2:g.156752C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6085C>A MANE Select	ENSP00000262367.5:p.Gln2029Lys
ENST00000262367.9:c.6085C>A	ENSP00000262367.5:p.Gln2029Lys
ENST00000382070.7:c.5971C>A	ENSP00000371502.3:p.Gln1991Lys
NM_001079846.1:c.5971C>A	NP_001073315.1:p.Gln1991Lys
NM_004380.2:c.6085C>A	NP_004371.2:p.Gln2029Lys
XM_005255124.3:c.6040C>A	XP_005255181.1:p.Gln2014Lys
XM_005255125.3:c.5668C>A	XP_005255182.1:p.Gln1890Lys
XM_006720848.2:c.5824C>A	XP_006720911.1:p.Gln1942Lys
XM_011522380.1:c.6031C>A	XP_011520682.1:p.Gln2011Lys
XM_011522381.1:c.5332C>A	XP_011520683.1:p.Gln1778Lys
XM_005255124.4:c.6040C>A	XP_005255181.1:p.Gln2014Lys
XM_005255125.4:c.5668C>A	XP_005255182.1:p.Gln1890Lys
XM_006720848.3:c.5824C>A	XP_006720911.1:p.Gln1942Lys
XM_011522381.2:c.5332C>A	XP_011520683.1:p.Gln1778Lys
XM_017022944.1:c.6079C>A	XP_016878433.1:p.Gln2027Lys
NM_004380.3:c.6085C>A MANE Select	NP_004371.2:p.Gln2029Lys