Canonical Allele Identifier: CA394559189

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3850316-T-A
• MyVariant Identifiers: chr16:g.3900317T>A (hg19) ; chr16:g.3850316T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850316T>A , CM000678.2:g.3850316T>A	GRCh38
NC_000016.9:g.3900317T>A , CM000678.1:g.3900317T>A	GRCh37
NC_000016.8:g.3840318T>A	NCBI36
NG_009873.1:g.34805A>T
NG_009873.2:g.35398A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.779A>T MANE Select	ENSP00000262367.5:p.Gln260Leu
ENST00000636895.1:n.6A>T
ENST00000262367.9:c.779A>T	ENSP00000262367.5:p.Gln260Leu
ENST00000382070.7:c.779A>T	ENSP00000371502.3:p.Gln260Leu
NM_001079846.1:c.779A>T	NP_001073315.1:p.Gln260Leu
NM_004380.2:c.779A>T	NP_004371.2:p.Gln260Leu
XM_005255124.3:c.779A>T	XP_005255181.1:p.Gln260Leu
XM_005255125.3:c.779A>T	XP_005255182.1:p.Gln260Leu
XM_006720848.2:c.779A>T	XP_006720911.1:p.Gln260Leu
XM_011522380.1:c.725A>T	XP_011520682.1:p.Gln242Leu
XM_011522382.1:c.779A>T	XP_011520684.1:p.Gln260Leu
XM_005255124.4:c.779A>T	XP_005255181.1:p.Gln260Leu
XM_005255125.4:c.779A>T	XP_005255182.1:p.Gln260Leu
XM_006720848.3:c.779A>T	XP_006720911.1:p.Gln260Leu
XM_011522382.3:c.779A>T	XP_011520684.1:p.Gln260Leu
XM_017022944.1:c.779A>T	XP_016878433.1:p.Gln260Leu
NM_004380.3:c.779A>T MANE Select	NP_004371.2:p.Gln260Leu