Canonical Allele Identifier: CA7869232

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 766921
• ClinVar RCV Id: RCV000945520 ; RCV002066226 ; RCV002354839 ; RCV002479086 ; RCV003933231
• dbSNP Id: rs370565083
• ExAC: 16:3779162 G / A
• gnomAD v2: 16-3779162-G-A
• gnomAD v3: 16-3729161-G-A
• gnomAD v4: 16-3729161-G-A
• MyVariant Identifiers: chr16:g.3779162G>A (hg19) ; chr16:g.3729161G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729161G>A , CM000678.2:g.3729161G>A	GRCh38
NC_000016.9:g.3779162G>A , CM000678.1:g.3779162G>A	GRCh37
NC_000016.8:g.3719163G>A	NCBI36
NG_009873.1:g.155960C>T
NG_009873.2:g.156553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5886C>T MANE Select	ENSP00000262367.5:p.Ile1962=
ENST00000262367.9:c.5886C>T	ENSP00000262367.5:p.Ile1962=
ENST00000382070.7:c.5772C>T	ENSP00000371502.3:p.Ile1924=
NM_001079846.1:c.5772C>T	NP_001073315.1:p.Ile1924=
NM_004380.2:c.5886C>T	NP_004371.2:p.Ile1962=
XM_005255124.3:c.5841C>T	XP_005255181.1:p.Ile1947=
XM_005255125.3:c.5469C>T	XP_005255182.1:p.Ile1823=
XM_006720848.2:c.5625C>T	XP_006720911.1:p.Ile1875=
XM_011522380.1:c.5832C>T	XP_011520682.1:p.Ile1944=
XM_011522381.1:c.5133C>T	XP_011520683.1:p.Ile1711=
XM_005255124.4:c.5841C>T	XP_005255181.1:p.Ile1947=
XM_005255125.4:c.5469C>T	XP_005255182.1:p.Ile1823=
XM_006720848.3:c.5625C>T	XP_006720911.1:p.Ile1875=
XM_011522381.2:c.5133C>T	XP_011520683.1:p.Ile1711=
XM_017022944.1:c.5880C>T	XP_016878433.1:p.Ile1960=
NM_004380.3:c.5886C>T MANE Select	NP_004371.2:p.Ile1962=