Canonical Allele Identifier: CA7868977

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2153406
• ClinVar RCV Id: RCV003085648
• dbSNP Id: rs761751428
• ExAC: 16:3778116 G / A
• gnomAD v2: 16-3778116-G-A
• gnomAD v3: 16-3728115-G-A
• gnomAD v4: 16-3728115-G-A
• MyVariant Identifiers: chr16:g.3778116G>A (hg19) ; chr16:g.3728115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728115G>A , CM000678.2:g.3728115G>A	GRCh38
NC_000016.9:g.3778116G>A , CM000678.1:g.3778116G>A	GRCh37
NC_000016.8:g.3718117G>A	NCBI36
NG_009873.1:g.157006C>T
NG_009873.2:g.157599C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6932C>T MANE Select	ENSP00000262367.5:p.Pro2311Leu
ENST00000262367.9:c.6932C>T	ENSP00000262367.5:p.Pro2311Leu
ENST00000382070.7:c.6818C>T	ENSP00000371502.3:p.Pro2273Leu
NM_001079846.1:c.6818C>T	NP_001073315.1:p.Pro2273Leu
NM_004380.2:c.6932C>T	NP_004371.2:p.Pro2311Leu
XM_005255124.3:c.6887C>T	XP_005255181.1:p.Pro2296Leu
XM_005255125.3:c.6515C>T	XP_005255182.1:p.Pro2172Leu
XM_006720848.2:c.6671C>T	XP_006720911.1:p.Pro2224Leu
XM_011522380.1:c.6878C>T	XP_011520682.1:p.Pro2293Leu
XM_011522381.1:c.6179C>T	XP_011520683.1:p.Pro2060Leu
XM_005255124.4:c.6887C>T	XP_005255181.1:p.Pro2296Leu
XM_005255125.4:c.6515C>T	XP_005255182.1:p.Pro2172Leu
XM_006720848.3:c.6671C>T	XP_006720911.1:p.Pro2224Leu
XM_011522381.2:c.6179C>T	XP_011520683.1:p.Pro2060Leu
XM_017022944.1:c.6926C>T	XP_016878433.1:p.Pro2309Leu
NM_004380.3:c.6932C>T MANE Select	NP_004371.2:p.Pro2311Leu