Canonical Allele Identifier: CA493276269

Gene: CREBBP

Linked Data

• dbSNP Id: rs2141233037
• gnomAD v4: 16-3778051-C-T
• MyVariant Identifiers: chr16:g.3828052C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778051C>T , CM000678.2:g.3778051C>T	GRCh38
NC_000016.9:g.3828052C>T , CM000678.1:g.3828052C>T	GRCh37
NC_000016.8:g.3768053C>T	NCBI36
NG_009873.1:g.107070G>A
NG_009873.2:g.107663G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2073G>A MANE Select	ENSP00000262367.5:p.Gln691=
ENST00000262367.9:c.2073G>A	ENSP00000262367.5:p.Gln691=
ENST00000382070.7:c.1959G>A	ENSP00000371502.3:p.Gln653=
ENST00000570939.2:c.678G>A	ENSP00000461002.2:p.Gln226=
ENST00000571826.5:c.122G>A
ENST00000572134.1:c.386G>A
ENST00000634839.1:n.235G>A
NM_001079846.1:c.1959G>A	NP_001073315.1:p.Gln653=
NM_004380.2:c.2073G>A	NP_004371.2:p.Gln691=
XM_005255124.3:c.2073G>A	XP_005255181.1:p.Gln691=
XM_005255125.3:c.2073G>A	XP_005255182.1:p.Gln691=
XM_006720848.2:c.2073G>A	XP_006720911.1:p.Gln691=
XM_011522380.1:c.2019G>A	XP_011520682.1:p.Gln673=
XM_011522381.1:c.1320G>A	XP_011520683.1:p.Gln440=
XM_011522382.1:c.2073G>A	XP_011520684.1:p.Gln691=
XM_005255124.4:c.2073G>A	XP_005255181.1:p.Gln691=
XM_005255125.4:c.2073G>A	XP_005255182.1:p.Gln691=
XM_006720848.3:c.2073G>A	XP_006720911.1:p.Gln691=
XM_011522381.2:c.1320G>A	XP_011520683.1:p.Gln440=
XM_011522382.3:c.2073G>A	XP_011520684.1:p.Gln691=
XM_017022944.1:c.2073G>A	XP_016878433.1:p.Gln691=
NM_004380.3:c.2073G>A MANE Select	NP_004371.2:p.Gln691=