Canonical Allele Identifier: CA394553749

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1307525
• ClinVar RCV Id: RCV001760943
• dbSNP Id: rs2151305024
• MyVariant Identifiers: chr16:g.3778775T>A (hg19) ; chr16:g.3728774T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728774T>A , CM000678.2:g.3728774T>A	GRCh38
NC_000016.9:g.3778775T>A , CM000678.1:g.3778775T>A	GRCh37
NC_000016.8:g.3718776T>A	NCBI36
NG_009873.1:g.156347A>T
NG_009873.2:g.156940A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6273A>T MANE Select	ENSP00000262367.5:p.Lys2091Asn
ENST00000262367.9:c.6273A>T	ENSP00000262367.5:p.Lys2091Asn
ENST00000382070.7:c.6159A>T	ENSP00000371502.3:p.Lys2053Asn
NM_001079846.1:c.6159A>T	NP_001073315.1:p.Lys2053Asn
NM_004380.2:c.6273A>T	NP_004371.2:p.Lys2091Asn
XM_005255124.3:c.6228A>T	XP_005255181.1:p.Lys2076Asn
XM_005255125.3:c.5856A>T	XP_005255182.1:p.Lys1952Asn
XM_006720848.2:c.6012A>T	XP_006720911.1:p.Lys2004Asn
XM_011522380.1:c.6219A>T	XP_011520682.1:p.Lys2073Asn
XM_011522381.1:c.5520A>T	XP_011520683.1:p.Lys1840Asn
XM_005255124.4:c.6228A>T	XP_005255181.1:p.Lys2076Asn
XM_005255125.4:c.5856A>T	XP_005255182.1:p.Lys1952Asn
XM_006720848.3:c.6012A>T	XP_006720911.1:p.Lys2004Asn
XM_011522381.2:c.5520A>T	XP_011520683.1:p.Lys1840Asn
XM_017022944.1:c.6267A>T	XP_016878433.1:p.Lys2089Asn
NM_004380.3:c.6273A>T MANE Select	NP_004371.2:p.Lys2091Asn