Canonical Allele Identifier: CA493393791

Gene: CREBBP

Linked Data

• dbSNP Id: rs1421133831
• gnomAD v4: 16-3728893-G-T
• MyVariant Identifiers: chr16:g.3778894G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728893G>T , CM000678.2:g.3728893G>T	GRCh38
NC_000016.9:g.3778894G>T , CM000678.1:g.3778894G>T	GRCh37
NC_000016.8:g.3718895G>T	NCBI36
NG_009873.1:g.156228C>A
NG_009873.2:g.156821C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6154C>A MANE Select	ENSP00000262367.5:p.Arg2052=
ENST00000262367.9:c.6154C>A	ENSP00000262367.5:p.Arg2052=
ENST00000382070.7:c.6040C>A	ENSP00000371502.3:p.Arg2014=
NM_001079846.1:c.6040C>A	NP_001073315.1:p.Arg2014=
NM_004380.2:c.6154C>A	NP_004371.2:p.Arg2052=
XM_005255124.3:c.6109C>A	XP_005255181.1:p.Arg2037=
XM_005255125.3:c.5737C>A	XP_005255182.1:p.Arg1913=
XM_006720848.2:c.5893C>A	XP_006720911.1:p.Arg1965=
XM_011522380.1:c.6100C>A	XP_011520682.1:p.Arg2034=
XM_011522381.1:c.5401C>A	XP_011520683.1:p.Arg1801=
XM_005255124.4:c.6109C>A	XP_005255181.1:p.Arg2037=
XM_005255125.4:c.5737C>A	XP_005255182.1:p.Arg1913=
XM_006720848.3:c.5893C>A	XP_006720911.1:p.Arg1965=
XM_011522381.2:c.5401C>A	XP_011520683.1:p.Arg1801=
XM_017022944.1:c.6148C>A	XP_016878433.1:p.Arg2050=
NM_004380.3:c.6154C>A MANE Select	NP_004371.2:p.Arg2052=