Canonical Allele Identifier: CA394563844

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786752G>C (hg19) ; chr16:g.3736751G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736751G>C , CM000678.2:g.3736751G>C	GRCh38
NC_000016.9:g.3786752G>C , CM000678.1:g.3786752G>C	GRCh37
NC_000016.8:g.3726753G>C	NCBI36
NG_009873.1:g.148370C>G
NG_009873.2:g.148963C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4459C>G MANE Select	ENSP00000262367.5:p.His1487Asp
ENST00000262367.9:c.4459C>G	ENSP00000262367.5:p.His1487Asp
ENST00000382070.7:c.4345C>G	ENSP00000371502.3:p.His1449Asp
ENST00000570939.2:c.3094C>G	ENSP00000461002.2:p.His1032Asp
ENST00000571763.5:n.249C>G
ENST00000574740.1:n.280C>G
ENST00000576720.1:n.3282C>G
NM_001079846.1:c.4345C>G	NP_001073315.1:p.His1449Asp
NM_004380.2:c.4459C>G	NP_004371.2:p.His1487Asp
XM_005255124.3:c.4414C>G	XP_005255181.1:p.His1472Asp
XM_005255125.3:c.4042C>G	XP_005255182.1:p.His1348Asp
XM_006720848.2:c.4198C>G	XP_006720911.1:p.His1400Asp
XM_011522380.1:c.4405C>G	XP_011520682.1:p.His1469Asp
XM_011522381.1:c.3706C>G	XP_011520683.1:p.His1236Asp
XM_005255124.4:c.4414C>G	XP_005255181.1:p.His1472Asp
XM_005255125.4:c.4042C>G	XP_005255182.1:p.His1348Asp
XM_006720848.3:c.4198C>G	XP_006720911.1:p.His1400Asp
XM_011522381.2:c.3706C>G	XP_011520683.1:p.His1236Asp
XM_017022944.1:c.4453C>G	XP_016878433.1:p.His1485Asp
NM_004380.3:c.4459C>G MANE Select	NP_004371.2:p.His1487Asp