Canonical Allele Identifier: CA7870277

Gene: CREBBP

Linked Data

• dbSNP Id: rs745953254
• ExAC: 16:3828031 T / A
• gnomAD v2: 16-3828031-T-A
• gnomAD v4: 16-3778030-T-A
• MyVariant Identifiers: chr16:g.3828031T>A (hg19) ; chr16:g.3778030T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778030T>A , CM000678.2:g.3778030T>A	GRCh38
NC_000016.9:g.3828031T>A , CM000678.1:g.3828031T>A	GRCh37
NC_000016.8:g.3768032T>A	NCBI36
NG_009873.1:g.107091A>T
NG_009873.2:g.107684A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2094A>T MANE Select	ENSP00000262367.5:p.Ala698=
ENST00000262367.9:c.2094A>T	ENSP00000262367.5:p.Ala698=
ENST00000382070.7:c.1980A>T	ENSP00000371502.3:p.Ala660=
ENST00000570939.2:c.699A>T	ENSP00000461002.2:p.Ala233=
ENST00000571826.5:c.143A>T
ENST00000572134.1:c.407A>T
ENST00000634839.1:n.256A>T
NM_001079846.1:c.1980A>T	NP_001073315.1:p.Ala660=
NM_004380.2:c.2094A>T	NP_004371.2:p.Ala698=
XM_005255124.3:c.2094A>T	XP_005255181.1:p.Ala698=
XM_005255125.3:c.2094A>T	XP_005255182.1:p.Ala698=
XM_006720848.2:c.2094A>T	XP_006720911.1:p.Ala698=
XM_011522380.1:c.2040A>T	XP_011520682.1:p.Ala680=
XM_011522381.1:c.1341A>T	XP_011520683.1:p.Ala447=
XM_011522382.1:c.2094A>T	XP_011520684.1:p.Ala698=
XM_005255124.4:c.2094A>T	XP_005255181.1:p.Ala698=
XM_005255125.4:c.2094A>T	XP_005255182.1:p.Ala698=
XM_006720848.3:c.2094A>T	XP_006720911.1:p.Ala698=
XM_011522381.2:c.1341A>T	XP_011520683.1:p.Ala447=
XM_011522382.3:c.2094A>T	XP_011520684.1:p.Ala698=
XM_017022944.1:c.2094A>T	XP_016878433.1:p.Ala698=
NM_004380.3:c.2094A>T MANE Select	NP_004371.2:p.Ala698=