Canonical Allele Identifier: CA394556023

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1703236
• ClinVar RCV Id: RCV002280359 ; RCV003164411
• MyVariant Identifiers: chr16:g.3779490T>G (hg19) ; chr16:g.3729489T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729489T>G , CM000678.2:g.3729489T>G	GRCh38
NC_000016.9:g.3779490T>G , CM000678.1:g.3779490T>G	GRCh37
NC_000016.8:g.3719491T>G	NCBI36
NG_009873.1:g.155632A>C
NG_009873.2:g.156225A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5558A>C MANE Select	ENSP00000262367.5:p.Gln1853Pro
ENST00000262367.9:c.5558A>C	ENSP00000262367.5:p.Gln1853Pro
ENST00000382070.7:c.5444A>C	ENSP00000371502.3:p.Gln1815Pro
NM_001079846.1:c.5444A>C	NP_001073315.1:p.Gln1815Pro
NM_004380.2:c.5558A>C	NP_004371.2:p.Gln1853Pro
XM_005255124.3:c.5513A>C	XP_005255181.1:p.Gln1838Pro
XM_005255125.3:c.5141A>C	XP_005255182.1:p.Gln1714Pro
XM_006720848.2:c.5297A>C	XP_006720911.1:p.Gln1766Pro
XM_011522380.1:c.5504A>C	XP_011520682.1:p.Gln1835Pro
XM_011522381.1:c.4805A>C	XP_011520683.1:p.Gln1602Pro
XM_005255124.4:c.5513A>C	XP_005255181.1:p.Gln1838Pro
XM_005255125.4:c.5141A>C	XP_005255182.1:p.Gln1714Pro
XM_006720848.3:c.5297A>C	XP_006720911.1:p.Gln1766Pro
XM_011522381.2:c.4805A>C	XP_011520683.1:p.Gln1602Pro
XM_017022944.1:c.5552A>C	XP_016878433.1:p.Gln1851Pro
NM_004380.3:c.5558A>C MANE Select	NP_004371.2:p.Gln1853Pro