Canonical Allele Identifier: CA394556536

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729642-A-C
• MyVariant Identifiers: chr16:g.3779643A>C (hg19) ; chr16:g.3729642A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729642A>C , CM000678.2:g.3729642A>C	GRCh38
NC_000016.9:g.3779643A>C , CM000678.1:g.3779643A>C	GRCh37
NC_000016.8:g.3719644A>C	NCBI36
NG_009873.1:g.155479T>G
NG_009873.2:g.156072T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5405T>G MANE Select	ENSP00000262367.5:p.Val1802Gly
ENST00000262367.9:c.5405T>G	ENSP00000262367.5:p.Val1802Gly
ENST00000382070.7:c.5291T>G	ENSP00000371502.3:p.Val1764Gly
NM_001079846.1:c.5291T>G	NP_001073315.1:p.Val1764Gly
NM_004380.2:c.5405T>G	NP_004371.2:p.Val1802Gly
XM_005255124.3:c.5360T>G	XP_005255181.1:p.Val1787Gly
XM_005255125.3:c.4988T>G	XP_005255182.1:p.Val1663Gly
XM_006720848.2:c.5144T>G	XP_006720911.1:p.Val1715Gly
XM_011522380.1:c.5351T>G	XP_011520682.1:p.Val1784Gly
XM_011522381.1:c.4652T>G	XP_011520683.1:p.Val1551Gly
XM_005255124.4:c.5360T>G	XP_005255181.1:p.Val1787Gly
XM_005255125.4:c.4988T>G	XP_005255182.1:p.Val1663Gly
XM_006720848.3:c.5144T>G	XP_006720911.1:p.Val1715Gly
XM_011522381.2:c.4652T>G	XP_011520683.1:p.Val1551Gly
XM_017022944.1:c.5399T>G	XP_016878433.1:p.Val1800Gly
NM_004380.3:c.5405T>G MANE Select	NP_004371.2:p.Val1802Gly