Canonical Allele Identifier: CA394559197

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2877567
• ClinVar RCV Id: RCV003759517
• gnomAD v4: 16-3850317-G-T
• MyVariant Identifiers: chr16:g.3900318G>T (hg19) ; chr16:g.3850317G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850317G>T , CM000678.2:g.3850317G>T	GRCh38
NC_000016.9:g.3900318G>T , CM000678.1:g.3900318G>T	GRCh37
NC_000016.8:g.3840319G>T	NCBI36
NG_009873.1:g.34804C>A
NG_009873.2:g.35397C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.778C>A MANE Select	ENSP00000262367.5:p.Gln260Lys
ENST00000636895.1:n.5C>A
ENST00000262367.9:c.778C>A	ENSP00000262367.5:p.Gln260Lys
ENST00000382070.7:c.778C>A	ENSP00000371502.3:p.Gln260Lys
NM_001079846.1:c.778C>A	NP_001073315.1:p.Gln260Lys
NM_004380.2:c.778C>A	NP_004371.2:p.Gln260Lys
XM_005255124.3:c.778C>A	XP_005255181.1:p.Gln260Lys
XM_005255125.3:c.778C>A	XP_005255182.1:p.Gln260Lys
XM_006720848.2:c.778C>A	XP_006720911.1:p.Gln260Lys
XM_011522380.1:c.724C>A	XP_011520682.1:p.Gln242Lys
XM_011522382.1:c.778C>A	XP_011520684.1:p.Gln260Lys
XM_005255124.4:c.778C>A	XP_005255181.1:p.Gln260Lys
XM_005255125.4:c.778C>A	XP_005255182.1:p.Gln260Lys
XM_006720848.3:c.778C>A	XP_006720911.1:p.Gln260Lys
XM_011522382.3:c.778C>A	XP_011520684.1:p.Gln260Lys
XM_017022944.1:c.778C>A	XP_016878433.1:p.Gln260Lys
NM_004380.3:c.778C>A MANE Select	NP_004371.2:p.Gln260Lys