Canonical Allele Identifier: CA394550748

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299717
• MyVariant Identifiers: chr16:g.3778015A>G (hg19) ; chr16:g.3728014A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728014A>G , CM000678.2:g.3728014A>G	GRCh38
NC_000016.9:g.3778015A>G , CM000678.1:g.3778015A>G	GRCh37
NC_000016.8:g.3718016A>G	NCBI36
NG_009873.1:g.157107T>C
NG_009873.2:g.157700T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7033T>C MANE Select	ENSP00000262367.5:p.Ser2345Pro
ENST00000262367.9:c.7033T>C	ENSP00000262367.5:p.Ser2345Pro
ENST00000382070.7:c.6919T>C	ENSP00000371502.3:p.Ser2307Pro
NM_001079846.1:c.6919T>C	NP_001073315.1:p.Ser2307Pro
NM_004380.2:c.7033T>C	NP_004371.2:p.Ser2345Pro
XM_005255124.3:c.6988T>C	XP_005255181.1:p.Ser2330Pro
XM_005255125.3:c.6616T>C	XP_005255182.1:p.Ser2206Pro
XM_006720848.2:c.6772T>C	XP_006720911.1:p.Ser2258Pro
XM_011522380.1:c.6979T>C	XP_011520682.1:p.Ser2327Pro
XM_011522381.1:c.6280T>C	XP_011520683.1:p.Ser2094Pro
XM_005255124.4:c.6988T>C	XP_005255181.1:p.Ser2330Pro
XM_005255125.4:c.6616T>C	XP_005255182.1:p.Ser2206Pro
XM_006720848.3:c.6772T>C	XP_006720911.1:p.Ser2258Pro
XM_011522381.2:c.6280T>C	XP_011520683.1:p.Ser2094Pro
XM_017022944.1:c.7027T>C	XP_016878433.1:p.Ser2343Pro
NM_004380.3:c.7033T>C MANE Select	NP_004371.2:p.Ser2345Pro