Canonical Allele Identifier: CA394553754

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2287801
• ClinVar RCV Id: RCV002864173
• MyVariant Identifiers: chr16:g.3778777T>A (hg19) ; chr16:g.3728776T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728776T>A , CM000678.2:g.3728776T>A	GRCh38
NC_000016.9:g.3778777T>A , CM000678.1:g.3778777T>A	GRCh37
NC_000016.8:g.3718778T>A	NCBI36
NG_009873.1:g.156345A>T
NG_009873.2:g.156938A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6271A>T MANE Select	ENSP00000262367.5:p.Lys2091Ter
ENST00000262367.9:c.6271A>T	ENSP00000262367.5:p.Lys2091Ter
ENST00000382070.7:c.6157A>T	ENSP00000371502.3:p.Lys2053Ter
NM_001079846.1:c.6157A>T	NP_001073315.1:p.Lys2053Ter
NM_004380.2:c.6271A>T	NP_004371.2:p.Lys2091Ter
XM_005255124.3:c.6226A>T	XP_005255181.1:p.Lys2076Ter
XM_005255125.3:c.5854A>T	XP_005255182.1:p.Lys1952Ter
XM_006720848.2:c.6010A>T	XP_006720911.1:p.Lys2004Ter
XM_011522380.1:c.6217A>T	XP_011520682.1:p.Lys2073Ter
XM_011522381.1:c.5518A>T	XP_011520683.1:p.Lys1840Ter
XM_005255124.4:c.6226A>T	XP_005255181.1:p.Lys2076Ter
XM_005255125.4:c.5854A>T	XP_005255182.1:p.Lys1952Ter
XM_006720848.3:c.6010A>T	XP_006720911.1:p.Lys2004Ter
XM_011522381.2:c.5518A>T	XP_011520683.1:p.Lys1840Ter
XM_017022944.1:c.6265A>T	XP_016878433.1:p.Lys2089Ter
NM_004380.3:c.6271A>T MANE Select	NP_004371.2:p.Lys2091Ter