Canonical Allele Identifier: CA394557053

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 521033
• ClinVar RCV Id: RCV000623640
• dbSNP Id: rs375462934
• MyVariant Identifiers: chr16:g.3779687G>T (hg19) ; chr16:g.3729686G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729686G>T , CM000678.2:g.3729686G>T	GRCh38
NC_000016.9:g.3779687G>T , CM000678.1:g.3779687G>T	GRCh37
NC_000016.8:g.3719688G>T	NCBI36
NG_009873.1:g.155435C>A
NG_009873.2:g.156028C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5361C>A MANE Select	ENSP00000262367.5:p.Asn1787Lys
ENST00000262367.9:c.5361C>A	ENSP00000262367.5:p.Asn1787Lys
ENST00000382070.7:c.5247C>A	ENSP00000371502.3:p.Asn1749Lys
NM_001079846.1:c.5247C>A	NP_001073315.1:p.Asn1749Lys
NM_004380.2:c.5361C>A	NP_004371.2:p.Asn1787Lys
XM_005255124.3:c.5316C>A	XP_005255181.1:p.Asn1772Lys
XM_005255125.3:c.4944C>A	XP_005255182.1:p.Asn1648Lys
XM_006720848.2:c.5100C>A	XP_006720911.1:p.Asn1700Lys
XM_011522380.1:c.5307C>A	XP_011520682.1:p.Asn1769Lys
XM_011522381.1:c.4608C>A	XP_011520683.1:p.Asn1536Lys
XM_005255124.4:c.5316C>A	XP_005255181.1:p.Asn1772Lys
XM_005255125.4:c.4944C>A	XP_005255182.1:p.Asn1648Lys
XM_006720848.3:c.5100C>A	XP_006720911.1:p.Asn1700Lys
XM_011522381.2:c.4608C>A	XP_011520683.1:p.Asn1536Lys
XM_017022944.1:c.5355C>A	XP_016878433.1:p.Asn1785Lys
NM_004380.3:c.5361C>A MANE Select	NP_004371.2:p.Asn1787Lys