Canonical Allele Identifier: CA7869149

Gene: CREBBP

Linked Data

• dbSNP Id: rs375378598
• ExAC: 16:3778753 C / T
• gnomAD v2: 16-3778753-C-T
• MyVariant Identifiers: chr16:g.3778753C>T (hg19) ; chr16:g.3728752C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728752C>T , CM000678.2:g.3728752C>T	GRCh38
NC_000016.9:g.3778753C>T , CM000678.1:g.3778753C>T	GRCh37
NC_000016.8:g.3718754C>T	NCBI36
NG_009873.1:g.156369G>A
NG_009873.2:g.156962G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6295G>A MANE Select	ENSP00000262367.5:p.Ala2099Thr
ENST00000262367.9:c.6295G>A	ENSP00000262367.5:p.Ala2099Thr
ENST00000382070.7:c.6181G>A	ENSP00000371502.3:p.Ala2061Thr
NM_001079846.1:c.6181G>A	NP_001073315.1:p.Ala2061Thr
NM_004380.2:c.6295G>A	NP_004371.2:p.Ala2099Thr
XM_005255124.3:c.6250G>A	XP_005255181.1:p.Ala2084Thr
XM_005255125.3:c.5878G>A	XP_005255182.1:p.Ala1960Thr
XM_006720848.2:c.6034G>A	XP_006720911.1:p.Ala2012Thr
XM_011522380.1:c.6241G>A	XP_011520682.1:p.Ala2081Thr
XM_011522381.1:c.5542G>A	XP_011520683.1:p.Ala1848Thr
XM_005255124.4:c.6250G>A	XP_005255181.1:p.Ala2084Thr
XM_005255125.4:c.5878G>A	XP_005255182.1:p.Ala1960Thr
XM_006720848.3:c.6034G>A	XP_006720911.1:p.Ala2012Thr
XM_011522381.2:c.5542G>A	XP_011520683.1:p.Ala1848Thr
XM_017022944.1:c.6289G>A	XP_016878433.1:p.Ala2097Thr
NM_004380.3:c.6295G>A MANE Select	NP_004371.2:p.Ala2099Thr