Canonical Allele Identifier: CA394557663

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151312491
• MyVariant Identifiers: chr16:g.3779836G>C (hg19) ; chr16:g.3729835G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729835G>C , CM000678.2:g.3729835G>C	GRCh38
NC_000016.9:g.3779836G>C , CM000678.1:g.3779836G>C	GRCh37
NC_000016.8:g.3719837G>C	NCBI36
NG_009873.1:g.155286C>G
NG_009873.2:g.155879C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5212C>G MANE Select	ENSP00000262367.5:p.His1738Asp
ENST00000262367.9:c.5212C>G	ENSP00000262367.5:p.His1738Asp
ENST00000382070.7:c.5098C>G	ENSP00000371502.3:p.His1700Asp
NM_001079846.1:c.5098C>G	NP_001073315.1:p.His1700Asp
NM_004380.2:c.5212C>G	NP_004371.2:p.His1738Asp
XM_005255124.3:c.5167C>G	XP_005255181.1:p.His1723Asp
XM_005255125.3:c.4795C>G	XP_005255182.1:p.His1599Asp
XM_006720848.2:c.4951C>G	XP_006720911.1:p.His1651Asp
XM_011522380.1:c.5158C>G	XP_011520682.1:p.His1720Asp
XM_011522381.1:c.4459C>G	XP_011520683.1:p.His1487Asp
XM_005255124.4:c.5167C>G	XP_005255181.1:p.His1723Asp
XM_005255125.4:c.4795C>G	XP_005255182.1:p.His1599Asp
XM_006720848.3:c.4951C>G	XP_006720911.1:p.His1651Asp
XM_011522381.2:c.4459C>G	XP_011520683.1:p.His1487Asp
XM_017022944.1:c.5206C>G	XP_016878433.1:p.His1736Asp
NM_004380.3:c.5212C>G MANE Select	NP_004371.2:p.His1738Asp