Canonical Allele Identifier: CA394554376

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728981-C-A
• MyVariant Identifiers: chr16:g.3778982C>A (hg19) ; chr16:g.3728981C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728981C>A , CM000678.2:g.3728981C>A	GRCh38
NC_000016.9:g.3778982C>A , CM000678.1:g.3778982C>A	GRCh37
NC_000016.8:g.3718983C>A	NCBI36
NG_009873.1:g.156140G>T
NG_009873.2:g.156733G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6066G>T MANE Select	ENSP00000262367.5:p.Gln2022His
ENST00000262367.9:c.6066G>T	ENSP00000262367.5:p.Gln2022His
ENST00000382070.7:c.5952G>T	ENSP00000371502.3:p.Gln1984His
NM_001079846.1:c.5952G>T	NP_001073315.1:p.Gln1984His
NM_004380.2:c.6066G>T	NP_004371.2:p.Gln2022His
XM_005255124.3:c.6021G>T	XP_005255181.1:p.Gln2007His
XM_005255125.3:c.5649G>T	XP_005255182.1:p.Gln1883His
XM_006720848.2:c.5805G>T	XP_006720911.1:p.Gln1935His
XM_011522380.1:c.6012G>T	XP_011520682.1:p.Gln2004His
XM_011522381.1:c.5313G>T	XP_011520683.1:p.Gln1771His
XM_005255124.4:c.6021G>T	XP_005255181.1:p.Gln2007His
XM_005255125.4:c.5649G>T	XP_005255182.1:p.Gln1883His
XM_006720848.3:c.5805G>T	XP_006720911.1:p.Gln1935His
XM_011522381.2:c.5313G>T	XP_011520683.1:p.Gln1771His
XM_017022944.1:c.6060G>T	XP_016878433.1:p.Gln2020His
NM_004380.3:c.6066G>T MANE Select	NP_004371.2:p.Gln2022His