Canonical Allele Identifier: CA493393928

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151306432
• gnomAD v4: 16-3728990-C-T
• MyVariant Identifiers: chr16:g.3778991C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728990C>T , CM000678.2:g.3728990C>T	GRCh38
NC_000016.9:g.3778991C>T , CM000678.1:g.3778991C>T	GRCh37
NC_000016.8:g.3718992C>T	NCBI36
NG_009873.1:g.156131G>A
NG_009873.2:g.156724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6057G>A MANE Select	ENSP00000262367.5:p.Gly2019=
ENST00000262367.9:c.6057G>A	ENSP00000262367.5:p.Gly2019=
ENST00000382070.7:c.5943G>A	ENSP00000371502.3:p.Gly1981=
NM_001079846.1:c.5943G>A	NP_001073315.1:p.Gly1981=
NM_004380.2:c.6057G>A	NP_004371.2:p.Gly2019=
XM_005255124.3:c.6012G>A	XP_005255181.1:p.Gly2004=
XM_005255125.3:c.5640G>A	XP_005255182.1:p.Gly1880=
XM_006720848.2:c.5796G>A	XP_006720911.1:p.Gly1932=
XM_011522380.1:c.6003G>A	XP_011520682.1:p.Gly2001=
XM_011522381.1:c.5304G>A	XP_011520683.1:p.Gly1768=
XM_005255124.4:c.6012G>A	XP_005255181.1:p.Gly2004=
XM_005255125.4:c.5640G>A	XP_005255182.1:p.Gly1880=
XM_006720848.3:c.5796G>A	XP_006720911.1:p.Gly1932=
XM_011522381.2:c.5304G>A	XP_011520683.1:p.Gly1768=
XM_017022944.1:c.6051G>A	XP_016878433.1:p.Gly2017=
NM_004380.3:c.6057G>A MANE Select	NP_004371.2:p.Gly2019=