Canonical Allele Identifier: CA394556132

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 984550
• ClinVar RCV Id: RCV001264634
• dbSNP Id: rs2051853150
• MyVariant Identifiers: chr16:g.3779530C>A (hg19) ; chr16:g.3729529C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729529C>A , CM000678.2:g.3729529C>A	GRCh38
NC_000016.9:g.3779530C>A , CM000678.1:g.3779530C>A	GRCh37
NC_000016.8:g.3719531C>A	NCBI36
NG_009873.1:g.155592G>T
NG_009873.2:g.156185G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5518G>T MANE Select	ENSP00000262367.5:p.Val1840Leu
ENST00000262367.9:c.5518G>T	ENSP00000262367.5:p.Val1840Leu
ENST00000382070.7:c.5404G>T	ENSP00000371502.3:p.Val1802Leu
NM_001079846.1:c.5404G>T	NP_001073315.1:p.Val1802Leu
NM_004380.2:c.5518G>T	NP_004371.2:p.Val1840Leu
XM_005255124.3:c.5473G>T	XP_005255181.1:p.Val1825Leu
XM_005255125.3:c.5101G>T	XP_005255182.1:p.Val1701Leu
XM_006720848.2:c.5257G>T	XP_006720911.1:p.Val1753Leu
XM_011522380.1:c.5464G>T	XP_011520682.1:p.Val1822Leu
XM_011522381.1:c.4765G>T	XP_011520683.1:p.Val1589Leu
XM_005255124.4:c.5473G>T	XP_005255181.1:p.Val1825Leu
XM_005255125.4:c.5101G>T	XP_005255182.1:p.Val1701Leu
XM_006720848.3:c.5257G>T	XP_006720911.1:p.Val1753Leu
XM_011522381.2:c.4765G>T	XP_011520683.1:p.Val1589Leu
XM_017022944.1:c.5512G>T	XP_016878433.1:p.Val1838Leu
NM_004380.3:c.5518G>T MANE Select	NP_004371.2:p.Val1840Leu