Canonical Allele Identifier: CA394553701

Gene: CREBBP

Linked Data

• dbSNP Id: rs375378598
• MyVariant Identifiers: chr16:g.3778753C>G (hg19) ; chr16:g.3728752C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6295G>C MANE Select	ENSP00000262367.5:p.Ala2099Pro
ENST00000262367.9:c.6295G>C	ENSP00000262367.5:p.Ala2099Pro
ENST00000382070.7:c.6181G>C	ENSP00000371502.3:p.Ala2061Pro
NM_001079846.1:c.6181G>C	NP_001073315.1:p.Ala2061Pro
NM_004380.2:c.6295G>C	NP_004371.2:p.Ala2099Pro
XM_005255124.3:c.6250G>C	XP_005255181.1:p.Ala2084Pro
XM_005255125.3:c.5878G>C	XP_005255182.1:p.Ala1960Pro
XM_006720848.2:c.6034G>C	XP_006720911.1:p.Ala2012Pro
XM_011522380.1:c.6241G>C	XP_011520682.1:p.Ala2081Pro
XM_011522381.1:c.5542G>C	XP_011520683.1:p.Ala1848Pro
XM_005255124.4:c.6250G>C	XP_005255181.1:p.Ala2084Pro
XM_005255125.4:c.5878G>C	XP_005255182.1:p.Ala1960Pro
XM_006720848.3:c.6034G>C	XP_006720911.1:p.Ala2012Pro
XM_011522381.2:c.5542G>C	XP_011520683.1:p.Ala1848Pro
XM_017022944.1:c.6289G>C	XP_016878433.1:p.Ala2097Pro
NM_004380.3:c.6295G>C MANE Select	NP_004371.2:p.Ala2099Pro