Canonical Allele Identifier: CA394566247

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1925389
• ClinVar RCV Id: RCV002618214
• gnomAD v4: 16-3810779-T-A
• MyVariant Identifiers: chr16:g.3860780T>A (hg19) ; chr16:g.3810779T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810779T>A , CM000678.2:g.3810779T>A	GRCh38
NC_000016.9:g.3860780T>A , CM000678.1:g.3860780T>A	GRCh37
NC_000016.8:g.3800781T>A	NCBI36
NG_009873.1:g.74342A>T
NG_009873.2:g.74935A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.799A>T MANE Select	ENSP00000262367.5:p.Met267Leu
ENST00000635899.1:n.41A>T
ENST00000262367.9:c.799A>T	ENSP00000262367.5:p.Met267Leu
ENST00000382070.7:c.799A>T	ENSP00000371502.3:p.Met267Leu
NM_001079846.1:c.799A>T	NP_001073315.1:p.Met267Leu
NM_004380.2:c.799A>T	NP_004371.2:p.Met267Leu
XM_005255124.3:c.799A>T	XP_005255181.1:p.Met267Leu
XM_005255125.3:c.799A>T	XP_005255182.1:p.Met267Leu
XM_006720848.2:c.799A>T	XP_006720911.1:p.Met267Leu
XM_011522380.1:c.745A>T	XP_011520682.1:p.Met249Leu
XM_011522381.1:c.46A>T	XP_011520683.1:p.Met16Leu
XM_011522382.1:c.799A>T	XP_011520684.1:p.Met267Leu
XM_005255124.4:c.799A>T	XP_005255181.1:p.Met267Leu
XM_005255125.4:c.799A>T	XP_005255182.1:p.Met267Leu
XM_006720848.3:c.799A>T	XP_006720911.1:p.Met267Leu
XM_011522381.2:c.46A>T	XP_011520683.1:p.Met16Leu
XM_011522382.3:c.799A>T	XP_011520684.1:p.Met267Leu
XM_017022944.1:c.799A>T	XP_016878433.1:p.Met267Leu
NM_004380.3:c.799A>T MANE Select	NP_004371.2:p.Met267Leu