Canonical Allele Identifier: CA394562301

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1992379
• ClinVar RCV Id: RCV002795928
• MyVariant Identifiers: chr16:g.3786099G>C (hg19) ; chr16:g.3736098G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736098G>C , CM000678.2:g.3736098G>C	GRCh38
NC_000016.9:g.3786099G>C , CM000678.1:g.3786099G>C	GRCh37
NC_000016.8:g.3726100G>C	NCBI36
NG_009873.1:g.149023C>G
NG_009873.2:g.149616C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4666C>G MANE Select	ENSP00000262367.5:p.Leu1556Val
ENST00000262367.9:c.4666C>G	ENSP00000262367.5:p.Leu1556Val
ENST00000382070.7:c.4552C>G	ENSP00000371502.3:p.Leu1518Val
ENST00000570939.2:c.3301C>G	ENSP00000461002.2:p.Leu1101Val
ENST00000571763.5:n.456C>G
ENST00000576720.1:n.3489C>G
NM_001079846.1:c.4552C>G	NP_001073315.1:p.Leu1518Val
NM_004380.2:c.4666C>G	NP_004371.2:p.Leu1556Val
XM_005255124.3:c.4621C>G	XP_005255181.1:p.Leu1541Val
XM_005255125.3:c.4249C>G	XP_005255182.1:p.Leu1417Val
XM_006720848.2:c.4405C>G	XP_006720911.1:p.Leu1469Val
XM_011522380.1:c.4612C>G	XP_011520682.1:p.Leu1538Val
XM_011522381.1:c.3913C>G	XP_011520683.1:p.Leu1305Val
XM_005255124.4:c.4621C>G	XP_005255181.1:p.Leu1541Val
XM_005255125.4:c.4249C>G	XP_005255182.1:p.Leu1417Val
XM_006720848.3:c.4405C>G	XP_006720911.1:p.Leu1469Val
XM_011522381.2:c.3913C>G	XP_011520683.1:p.Leu1305Val
XM_017022944.1:c.4660C>G	XP_016878433.1:p.Leu1554Val
NM_004380.3:c.4666C>G MANE Select	NP_004371.2:p.Leu1556Val