Canonical Allele Identifier: CA394556217

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310446
• MyVariant Identifiers: chr16:g.3779563G>T (hg19) ; chr16:g.3729562G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729562G>T , CM000678.2:g.3729562G>T	GRCh38
NC_000016.9:g.3779563G>T , CM000678.1:g.3779563G>T	GRCh37
NC_000016.8:g.3719564G>T	NCBI36
NG_009873.1:g.155559C>A
NG_009873.2:g.156152C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5485C>A MANE Select	ENSP00000262367.5:p.His1829Asn
ENST00000262367.9:c.5485C>A	ENSP00000262367.5:p.His1829Asn
ENST00000382070.7:c.5371C>A	ENSP00000371502.3:p.His1791Asn
NM_001079846.1:c.5371C>A	NP_001073315.1:p.His1791Asn
NM_004380.2:c.5485C>A	NP_004371.2:p.His1829Asn
XM_005255124.3:c.5440C>A	XP_005255181.1:p.His1814Asn
XM_005255125.3:c.5068C>A	XP_005255182.1:p.His1690Asn
XM_006720848.2:c.5224C>A	XP_006720911.1:p.His1742Asn
XM_011522380.1:c.5431C>A	XP_011520682.1:p.His1811Asn
XM_011522381.1:c.4732C>A	XP_011520683.1:p.His1578Asn
XM_005255124.4:c.5440C>A	XP_005255181.1:p.His1814Asn
XM_005255125.4:c.5068C>A	XP_005255182.1:p.His1690Asn
XM_006720848.3:c.5224C>A	XP_006720911.1:p.His1742Asn
XM_011522381.2:c.4732C>A	XP_011520683.1:p.His1578Asn
XM_017022944.1:c.5479C>A	XP_016878433.1:p.His1827Asn
NM_004380.3:c.5485C>A MANE Select	NP_004371.2:p.His1829Asn