Canonical Allele Identifier: CA394563788

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736744-G-T
• MyVariant Identifiers: chr16:g.3786745G>T (hg19) ; chr16:g.3736744G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736744G>T , CM000678.2:g.3736744G>T	GRCh38
NC_000016.9:g.3786745G>T , CM000678.1:g.3786745G>T	GRCh37
NC_000016.8:g.3726746G>T	NCBI36
NG_009873.1:g.148377C>A
NG_009873.2:g.148970C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4466C>A MANE Select	ENSP00000262367.5:p.Pro1489His
ENST00000262367.9:c.4466C>A	ENSP00000262367.5:p.Pro1489His
ENST00000382070.7:c.4352C>A	ENSP00000371502.3:p.Pro1451His
ENST00000570939.2:c.3101C>A	ENSP00000461002.2:p.Pro1034His
ENST00000571763.5:n.256C>A
ENST00000574740.1:n.287C>A
ENST00000576720.1:n.3289C>A
NM_001079846.1:c.4352C>A	NP_001073315.1:p.Pro1451His
NM_004380.2:c.4466C>A	NP_004371.2:p.Pro1489His
XM_005255124.3:c.4421C>A	XP_005255181.1:p.Pro1474His
XM_005255125.3:c.4049C>A	XP_005255182.1:p.Pro1350His
XM_006720848.2:c.4205C>A	XP_006720911.1:p.Pro1402His
XM_011522380.1:c.4412C>A	XP_011520682.1:p.Pro1471His
XM_011522381.1:c.3713C>A	XP_011520683.1:p.Pro1238His
XM_005255124.4:c.4421C>A	XP_005255181.1:p.Pro1474His
XM_005255125.4:c.4049C>A	XP_005255182.1:p.Pro1350His
XM_006720848.3:c.4205C>A	XP_006720911.1:p.Pro1402His
XM_011522381.2:c.3713C>A	XP_011520683.1:p.Pro1238His
XM_017022944.1:c.4460C>A	XP_016878433.1:p.Pro1487His
NM_004380.3:c.4466C>A MANE Select	NP_004371.2:p.Pro1489His