Canonical Allele Identifier: CA7869160

Gene: CREBBP

Linked Data

• dbSNP Id: rs757538974
• ExAC: 16:3778841 G / A
• gnomAD v2: 16-3778841-G-A
• gnomAD v3: 16-3728840-G-A
• gnomAD v4: 16-3728840-G-A
• MyVariant Identifiers: chr16:g.3778841G>A (hg19) ; chr16:g.3728840G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728840G>A , CM000678.2:g.3728840G>A	GRCh38
NC_000016.9:g.3778841G>A , CM000678.1:g.3778841G>A	GRCh37
NC_000016.8:g.3718842G>A	NCBI36
NG_009873.1:g.156281C>T
NG_009873.2:g.156874C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6207C>T MANE Select	ENSP00000262367.5:p.Asp2069=
ENST00000262367.9:c.6207C>T	ENSP00000262367.5:p.Asp2069=
ENST00000382070.7:c.6093C>T	ENSP00000371502.3:p.Asp2031=
NM_001079846.1:c.6093C>T	NP_001073315.1:p.Asp2031=
NM_004380.2:c.6207C>T	NP_004371.2:p.Asp2069=
XM_005255124.3:c.6162C>T	XP_005255181.1:p.Asp2054=
XM_005255125.3:c.5790C>T	XP_005255182.1:p.Asp1930=
XM_006720848.2:c.5946C>T	XP_006720911.1:p.Asp1982=
XM_011522380.1:c.6153C>T	XP_011520682.1:p.Asp2051=
XM_011522381.1:c.5454C>T	XP_011520683.1:p.Asp1818=
XM_005255124.4:c.6162C>T	XP_005255181.1:p.Asp2054=
XM_005255125.4:c.5790C>T	XP_005255182.1:p.Asp1930=
XM_006720848.3:c.5946C>T	XP_006720911.1:p.Asp1982=
XM_011522381.2:c.5454C>T	XP_011520683.1:p.Asp1818=
XM_017022944.1:c.6201C>T	XP_016878433.1:p.Asp2067=
NM_004380.3:c.6207C>T MANE Select	NP_004371.2:p.Asp2069=