Canonical Allele Identifier: CA394551033

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728085-A-C
• MyVariant Identifiers: chr16:g.3778086A>C (hg19) ; chr16:g.3728085A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728085A>C , CM000678.2:g.3728085A>C	GRCh38
NC_000016.9:g.3778086A>C , CM000678.1:g.3778086A>C	GRCh37
NC_000016.8:g.3718087A>C	NCBI36
NG_009873.1:g.157036T>G
NG_009873.2:g.157629T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6962T>G MANE Select	ENSP00000262367.5:p.Leu2321Arg
ENST00000262367.9:c.6962T>G	ENSP00000262367.5:p.Leu2321Arg
ENST00000382070.7:c.6848T>G	ENSP00000371502.3:p.Leu2283Arg
NM_001079846.1:c.6848T>G	NP_001073315.1:p.Leu2283Arg
NM_004380.2:c.6962T>G	NP_004371.2:p.Leu2321Arg
XM_005255124.3:c.6917T>G	XP_005255181.1:p.Leu2306Arg
XM_005255125.3:c.6545T>G	XP_005255182.1:p.Leu2182Arg
XM_006720848.2:c.6701T>G	XP_006720911.1:p.Leu2234Arg
XM_011522380.1:c.6908T>G	XP_011520682.1:p.Leu2303Arg
XM_011522381.1:c.6209T>G	XP_011520683.1:p.Leu2070Arg
XM_005255124.4:c.6917T>G	XP_005255181.1:p.Leu2306Arg
XM_005255125.4:c.6545T>G	XP_005255182.1:p.Leu2182Arg
XM_006720848.3:c.6701T>G	XP_006720911.1:p.Leu2234Arg
XM_011522381.2:c.6209T>G	XP_011520683.1:p.Leu2070Arg
XM_017022944.1:c.6956T>G	XP_016878433.1:p.Leu2319Arg
NM_004380.3:c.6962T>G MANE Select	NP_004371.2:p.Leu2321Arg